Page last updated: 2024-08-23

tridemorph and Epidermolysis Bullosa, Junctional

tridemorph has been researched along with Epidermolysis Bullosa, Junctional in 112 studies

Research

Studies (112)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	41 (36.61)	18.2507
2000's	28 (25.00)	29.6817
2010's	34 (30.36)	24.3611
2020's	9 (8.04)	2.80

Authors

Authors	Studies
Diana, IA; Dwiyana, RF; Gondokaryono, SP; Koh, MJ; Rahardja, JI; Tan, EC; Wei, H; Yogya, Y	1
Castiglia, D; Di Zenzo, G; Didona, B; Fania, L; Guerra, L; Mazzanti, C; Provini, A; Salemme, A; Sinagra, JL	1
Ebens, CL; Keith, AR; Tolar, J; Twaroski, K	1
Antaya, R; Chen, M; Chen, Q; Cogan, J; Hao, M; Hou, Y; Kim, G; Kwong, A; Lincoln, V; Woodley, DT	1
Jagannathan, V; Kiener, S; Laprais, A; Leeb, T; Mauldin, EA; Olivry, T	1
Hou, PC; Hsu, CK; Huang, FC; Hung, JH	1
Bauer, JW; Breitenbach, M; Breitenbach-Koller, H; Friedrich, A; Hintner, H; Karl, T; Kitzler, CM; Krauß, J; Lottspeich, F; Mewes, W; Müller, N; Rathner, A; Rathner, P; Schernthaner, J; von Hagen, J; Wießner, M	1
Barresi, S; Castiglia, D; Condorelli, AG; De Luca, N; Fortugno, P; Graziano, C; Neri, I; Pizzi, S; Ponzin, D; Rossi, S; Tartaglia, M; Trojan, D; Zambruno, G	1
Chen, B; Chen, LY; Chen, PC; Chen, WR; Hong, YK; Hou, PC; Hsu, CK; Huang, HY; Lee, JY; McGrath, JA; Natsuga, K; Sun, HS; Tang, YA; Tu, WT	1
Castiglia, D; Cianfarani, F; Condorelli, AG; Di Zenzo, G; Didona, B; Fortugno, P; Proto, V; Zambruno, G	1
Bruckner-Tuderman, L; Has, C; He, Y; Kiritsi, D; Leppert, J; Ott, H; Reimer, A; Schauer, F; Schneider, H; Schwieger-Briel, A	1
Bauer, JW; Bicciato, S; Bondanza, S; Carulli, S; Contin, R; De Luca, M; De Rosa, L; Enzo, E; Fischer, M; Hirsch, T; Jacobsen, F; Jurman, I; Klausegger, A; Kneisz, D; Kueckelhaus, M; Lehnhardt, M; Luecke, T; Morgante, M; Pellegrini, G; Quaglino, D; Reichelt, J; Romano, O; Rothoeft, T; Scaglione, D; Secone Seconetti, A; Teig, N	1
Al-Aama, JY; Al-Bishri, A; Al-Fadhel, S; Al-Qurashi, A; Al-Shehri, BA; Al-Tala, S; Al-Zahrani, HS; Betz, RC; Jelani, M; Kang, C; Mohamoud, HSA	1
Alexeev, V; Bauer, JW; Chen, M; Cogan, J; De Luca, M; De Rosa, L; Hao, M; Hirsch, M; Hou, Y; Lincoln, V; Woodley, DT	1
Bruckner-Tuderman, L; Eberwein, P; Has, C; Laszig, R; Mittelviefhaus, H; Pfeiffer, J; Reimer, A	1
Ammendola, V; Baldassarri, S; Benati, D; Carretero, M; Cocchiarella, F; Colloca, S; Del Rio, M; Has, C; Larcher, F; Miselli, F; Patrizi, C; Recchia, A	1
Franzke, CW; Galiger, C; Has, C; Hoppe, E; Kroeger, J	1
Cao, J; Gao, S; He, X; Li, L; Mao, B; Tian, P; Wang, H; Yang, Y; Zhou, A; Zhou, J	1
El-Sayed, W; Inglehearn, CF; Kirkham, J; Mighell, AJ; Poulter, JA; Shore, RC	1
Abbas, O; Bourji, L; Farooq, M; Fujikawa, H; Fujimoto, A; Iguchi, R; Itani, S; Kibbi, AG; Kurban, M; Shimomura, Y; Sleiman, R; Succariah, F	1
Gostyński, A; Jonkman, MF; Pasmooij, AM	1
Boldrini, R; Calabresi, V; Castiglia, D; Cianfarani, F; Di Zenzo, G; Diociaiuti, A; El Hachem, M; Fortugno, P; Piccinni, E; Zambruno, G	1
Hyun, HK; Kim, JW; Ko, J; Le, CG; Lee, KE; Lee, SH; Shin, TJ	1
Hagihara, S; Ishiko, A; Masunaga, T; Takada, Y; Yoshida, K	1
Has, C	1
Bruckner-Tuderman, L; Franzke, CW; Has, C; Huilaja, L; Kiritsi, D; Kokkonen, N; Larmas, M; Pazzagli, C; Schwieger-Briel, A; Tasanen, K	1
Castiglia, D; Charlesworth, A; Has, C; Hatvani, Z; Kárpáti, S; Mayer, B; Mazán, M; Medvecz, M; Pamjav, H; Petit, F; Pintér, D; Silló, P	1
Boldrini, R; Castiglia, D; Diociaiuti, A; El Hachem, M; Fortugno, P; Helmer-Citterich, M; Palmeri, A; Proto, V; Zambruno, G	1
Bruckner-Tuderman, L; Hammersen, J; Has, C; Kiritsi, D; Metzler, M; Naumann-Bartsch, N; Schneider, H; Söder, S; Stachel, D; Tardieu, M	1
Bauer, J; Campos, M; Fuentes, I; Gonzalez, S; Klausegger, A; Morandé, P; Palisson, F; Pohla-Gubo, G; Repetto, G; Schnitzhofer, P; Yubero, MJ	1
Chowdhury, MR; Dinda, AK; Jayarajan, R; Kabra, M; Kaur, P; Kumar, M; Ray, SB; Scaria, V; Sethuraman, G; Sharma, VK; Sivasubbu, S; Vellarikkal, SK; Verma, A; Yenamandra, VK	1
Bauer, JW; Diem, A; Laimer, M; Lanschuetzer, CM	1
Cohn, HI; Murrell, DF	1
Braude, PR; Fassihi, H; Liu, L; McGrath, JA; Renwick, PJ	1
Keene, DR; Marinkovich, MP; Nguyen, NT; Sakai, N; Waterman, EA	1
Distl, O; Ganter, M; Hewicker-Trautwein, M; Kerkmann, A; Kijas, J; Mömke, S; Ostmeier, M; Wöhlke, A	1
Bruckner-Tuderman, L; Chiang, LY; Duarte, N; Hu, J; Koch, M; Lewin, GR; Oliveira, BE; Poole, K; Sierra, YA	1
Jonkman, MF; Lemmink, HH; Sinke, RJ; van Dijk-Bos, KK; Yuen, WY	1
Endo, M; Flake, AW; Jiang, Q; Marinkovich, PM; Matsui, C; McGrath, J; Qiujie, J; Radu, A; Tamai, K; Uitto, J; Zoltick, PW	1
Distl, O; Frase, R; Ganter, M; Hewicker-Trautwein, M; Kerkmann, A; Ostmeier, M	1
Huizinga, J; Jonkman, MF; Yuen, WY	1
Blazar, BR; Keene, DR; Lees, CJ; Lund, TC; Marinkovich, MP; McElroy, A; Osborn, MJ; Riddle, M; Tolar, J; Wagner, JE; Xia, L	1
Akl, KF; Al Amori, I; Badran, EF; Battah, HA; Khalil, RW	1
Baird, J; Charlesworth, A; Linder, K; Meneguzzi, G; Ortonne, JP; Spirito, F	1
Fartasch, M; Izakovic, J; Jiang, QJ; Meneguzzi, G; Rascher, W; Schneider, H; Zenker, M	1
Bauer, J; Bosk, A; Bruckner-Tuderman, L; Garbe, C; Rassner, G; Schumann, H; Sönnichsen, K; Tomaske, M	1
Kay, MA; Keene, D; Khavari, PA; Lin, Q; Ortiz-Urda, S; Yant, SR	1
Calos, MP; Keene, DR; Khavari, PA; Lin, Q; Ortiz-Urda, S; Thyagarajan, B	1
Castiglia, D; De Luca, N; Mastrogiacomo, A; Mazzanti, C; Posteraro, P; Scaturro, M; Zaccaria, ML; Zambruno, G	1
Anton-Lamprecht, I; Bauer, JW; Buchroithner, B; Ebschner, U; Hintner, H; Klausegger, A; Laimer, M; Lanschuetzer, CM; Pohla-Gubo, G	1
Angelo, C; Castiglia, D; De Luca, N; El Hachem, M; Gobello, T; Meneguzzi, G; Posteraro, P; Tadini, G; Zambruno, G	1
Bruckner-Tuderman, L; Charlesworth, A; Jiang, QJ; Meneguzzi, G; Mühle, C; Schneider, H	1
Hamill, KJ; McLean, WH	1
Bauer, JW; Diem, A; Hachleitner, J; Hintner, H; Klausegger, A; Laimer, M; Muss, W; Pohla-Gubo, G; Sadler, E; Stadlhuber, R	1
Pfendner, E; Sadowski, S; Uitto, J; Varki, R	1
Muehle, C; Schneider, H	1
Choy, YS; Dopping-Hepenstal, PJ; Fassihi, H; Liu, L; McGrath, JA; Ozoemena, L; Wessagowit, V	1
Jiang, Q; Mühle, C; Neuner, A; Pacho, F; Park, J; Schneider, H; Waddington, SN	1
Mühle, C; Pacho, F; Schneider, H	1
Bonini, C; Capurro, S; Conti, A; De Luca, M; Di Iorio, E; Di Nunzio, F; Ferrari, G; Ferrari, S; Giannetti, A; Magnoni, C; Maruggi, G; Mavilio, F; Pellegrini, G; Provasi, E; Recchia, A	1
Kahn, A	1
Arin, MJ; Borm, B; Hartwig, B; Herzog, V; Kirfel, G; Schneider, H	1
Boccaletti, V; Castiglia, D; Castori, M; De Luca, N; El Hachem, M; Floriddia, G; Ghirri, P; Pascucci, M; Zambruno, G	1
Castiglia, D; Castori, M; Covaciu, C; Floriddia, G; Paradisi, M; Pisaneschi, E; Torrente, I	1
Smith, LT	1
Bauer, EA; Hoeffler, WK; Matsui, C; Nelson, CF; Wang, CK	1
Aberdam, D; Baudoin, C; Ciatti, S; Dunnill, MG; Eady, RA; Kivirikko, S; McGrath, JA; McMillan, JR; Meneguzzi, G; Ortonne, JP	1
Burgeson, RE; Christiano, AM; Gerecke, DR; Pulkkinen, L; Uitto, J; Wagman, DW	1
Christiano, AM; Meneguzzi, G; Ortonne, JP; Pulkkinen, L; Tryggvason, K; Uitto, J; Vailly, J	1
Eady, RA; McGrath, JA; McMillan, JR	1
Brown, TA; Carter, WG; Gil, SG; Ryan, MC	1
Christiano, AM; Pulkkinen, L; Uitto, J	1
Bruckner-Tuderman, L; Gedde-Dahl, T; Lissitzky, JC; Sarret, Y; Schmitt, D; Verrando, P; Winberg, JO	1
Airenne, T; Christiano, AM; Haakana, H; Pulkkinen, L; Tryggvason, K; Uitto, J	1
Aberdam, D; Bonifas, J; Christiano, AM; Epstein, EH; Galliano, MF; Ortonne, JP; Pulkkinen, L; Tryggvason, K; Uitto, J; Vailly, J	1
Fine, JD; Hatta, N; Nishikawa, T; Shimizu, H; Shozu, M; Suzumori, K	1
Burgeson, R; Mattei, MG; Meneguzzi, G; Ortonne, JP; Pedeutour, F; Szepetowski, P; Vailly, J	1
Baudoin, C; Blanchet-Bardon, C; Gambini, C; Meneguzzi, G; Miquel, C; Ortonne, JP	1
Aberdam, D; Eady, RA; Ishida-Yamamoto, A; Ortonne, JP; Partouche, O; Schofield, O; Verrando, P	1
Christiano, AM; Ciatti, S; Dunnill, GS; Eady, RA; Kivirikko, S; McGrath, JA; Moss, C; Rodeck, CH; Uitto, J	1
Harper, JI; Lake, BD; Phillips, RJ; Valari, MD	1
Baudoin, C; Christiano, AM; Galliano, MF; Meneguzzi, G; Miquel, C; Ortonne, JP; Uitto, J; Vidal, F	1
Blanchet-Bardon, C; Burgeson, RE; Christiano, AM; Holbrook, KA; Marinkovich, MP; Meneguzzi, G; Ortonne, JP; Smith, LT	1
Durand-Clement, M; Gagnoux-Palacios, L; Marinkovich, P; Meneguzzi, G; Miquel, C; Ortonne, JP	1
Durand-Clement, M; Gagnoux-Palacios, L; Meneguzzi, G; Ortonne, JP; Vailly, J; Wagner, E	1
Brown, TA; Caputo, R; Carter, WG; Gil, SG; Lestringant, GG; Sybert, VP; Tadini, G	1
Christiano, AM; McGrath, JA; Pulkkinen, L; Uitto, J	1
Anhalt, G; Chan, LS; Chen, M; Majmudar, AA; Marinkovich, MP; Meier, F; Schaumburg-Lever, G; Tran, HH; Woodley, DT	1
Burgeson, RE; Eady, RA; Kon, A; McGrath, JA; McMillan, JR; Meneguzzi, G; Ortonne, JP; Pulkkinen, L; Uitto, J	1
Blanchet-Bardon, C; Christiano, AM; McGrath, JA; Meneguzzi, G; Ortonne, JP; Pulkkinen, L; Uitto, J; Xu, Y	1
Ault, JG; Flaherty, L; Guarnieri, MH; Kuster, JE; Swiatek, PJ	1
Balding, S; Bruckner-Tuderman, L; Giudice, GJ; Herron, GS; Jonkman, MF; Marinkovich, MP; McGuire, JS; Pas, HH; Rao, SK; Tran, HH	1
Bullrich, F; Czarnecki, P; Pulkkinen, L; Uitto, J; Weiss, L	1
Angelo, C; Castiglia, D; Gagnoux-Palacios, L; Meneguzzi, G; Paradisi, M; Posteraro, P; Sorvillo, S; Zambruno, G	1
Hoeffler, WK; Kutzkey, T; Lanigan, C; Matsui, C; Morohashi, M; Nelson, CF; Pereira, P; Wang, CK; Welsh, EA; Woodley, D	1
Hagiwara, S; Lin, L; Nishikawa, T; Pulkkinen, L; Shimizu, H; Takizawa, Y; Uitto, J	1
Blaikie, P; Dans, M; Giancotti, FG; Kim, N; Murgia, C; Petrie, HT	1
Airenne, T; Hormia, M; Sahlberg, C; Thesleff, I	1
Atherton, DJ; Eady, RA; Lake, BD; McGrath, JA; Mellerio, JE	1
Carter, WG; Lee, K; Miyashita, Y; Ryan, MC	1
Ashton, GH; Eady, RA; McGrath, JA; McMillan, JR; Mellerio, JE; Salas-Alanis, JC; Swensson, O	1
Bruckner-Tuderman, L; Floeth, M	1
Hara, M; Hashimoto, I; Kon, A; Pulkkinen, L; Tagami, H; Tamai, K; Uitto, J	1
Meneguzzi, G; Ortonne, JP	1
Chen, X; Goodnough, JB; Khavari, PA; Lin, Q; Robbins, PB; Tian, H	1
Christiano, AM; Cserhalmi-Friedman, PB; Yeboa, KA	1
Goodnough, JB; Khavari, PA; Robbins, PB; Sheu, SM	1
Allegra, M; Bodemer, C; de Prost, Y; Gache, Y; Meneguzzi, G; Ortonne, JP; Pisani-Spadafora, A	1
Bruckner-Tuderman, L; Chao, SC; Murrell, D; Nakano, A; Pfendner, E; Pulkkinen, L; Uitto, J	1
Bergman, R; Frossard, P; Gershoni, R; Kanaan, M; Lestringant, GG; Meneguzzi, G; Nakano, A; Paperna, T; Pfendner, E; Pulkkinen, L; Richard, G; Sprecher, E; Uitto, J	1
Ortonne, JP; Partouche, O; Pisani, A; Verrando, P	1
Aberdam, D; Burgeson, R; Marinkovich, MP; Meneguzzi, G; Ortonne, JP; Pisani, A	1

Reviews

8 review(s) available for tridemorph and Epidermolysis Bullosa, Junctional

Article	Year
Leading edge: emerging drug, cell, and gene therapies for junctional epidermolysis bullosa. Expert opinion on biological therapy, 2020, Volume: 20, Issue:8 Topics: Cell Adhesion Molecules; Dependovirus; Epidermolysis Bullosa, Junctional; Genetic Therapy; Genetic Vectors; Hematopoietic Stem Cell Transplantation; Humans; Kalinin; Skin Transplantation; Triterpenes	2020
Herlitz junctional epidermolysis bullosa. Dermatologic clinics, 2010, Volume: 28, Issue:1 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Laminin; Skin	2010
Laryngo-onycho-cutaneous syndrome. Dermatologic clinics, 2010, Volume: 28, Issue:1 Topics: Cell Adhesion Molecules; Conjunctival Diseases; Epidermolysis Bullosa, Junctional; Humans; India; Kalinin; Laryngeal Diseases	2010
Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature. European journal of pediatrics, 2002, Volume: 161, Issue:12 Topics: Basement Membrane; Cell Adhesion Molecules; Codon, Nonsense; Epidermolysis Bullosa, Junctional; Fatal Outcome; Female; Homozygote; Humans; Immunohistochemistry; Infant, Newborn; Kalinin; Sequence Analysis, DNA	2002
The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses. Clinical and experimental dermatology, 2005, Volume: 30, Issue:4 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Skin Diseases, Genetic; Wound Healing	2005
Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction. The Journal of investigative dermatology, 1994, Volume: 103, Issue:5 Suppl Topics: Cell Adhesion Molecules; Collagen; Desmosomes; Epidermis; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Microscopy, Electron; Skin; Skin Diseases	1994
Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin beta 4 that inhibit hemidesmosome formation. The Journal of investigative dermatology, 1994, Volume: 103, Issue:5 Suppl Topics: Cell Adhesion; Cell Adhesion Molecules; Desmosomes; Epidermis; Epidermolysis Bullosa, Junctional; Humans; Integrin beta4; Integrins; Kalinin	1994
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. The Journal of investigative dermatology, 1994, Volume: 103, Issue:5 Suppl Topics: Cell Adhesion Molecules; Collagen; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Genes; Homozygote; Humans; Kalinin; Molecular Biology; Mutation	1994

Trials

2 trial(s) available for tridemorph and Epidermolysis Bullosa, Junctional

Article	Year
Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations. Molecular therapy : the journal of the American Society of Gene Therapy, 2020, 05-06, Volume: 28, Issue:5 Topics: Administration, Cutaneous; Anti-Bacterial Agents; Cell Adhesion Molecules; Cell Survival; Cells, Cultured; Child; Child, Preschool; Codon, Nonsense; Epidermolysis Bullosa, Junctional; Female; Follow-Up Studies; Gentamicins; Humans; Infant; Kalinin; Keratinocytes; Male; Signal Transduction; Skin; Treatment Outcome; Wound Healing	2020
Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nature medicine, 2006, Volume: 12, Issue:12 Topics: 3T3 Cells; Adult; Animals; Cell Adhesion Molecules; Cells, Cultured; Epidermal Cells; Epidermolysis Bullosa, Junctional; Feasibility Studies; Genetic Therapy; Genetic Vectors; Humans; Kalinin; Male; Mice; Retroviridae; Stem Cell Transplantation; Tissue Engineering	2006

Article

Year

Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.

Molecular therapy : the journal of the American Society of Gene Therapy, 2020, 05-06, Volume: 28, Issue:5

Topics: Administration, Cutaneous; Anti-Bacterial Agents; Cell Adhesion Molecules; Cell Survival; Cells, Cultured; Child; Child, Preschool; Codon, Nonsense; Epidermolysis Bullosa, Junctional; Female; Follow-Up Studies; Gentamicins; Humans; Infant; Kalinin; Keratinocytes; Male; Signal Transduction; Skin; Treatment Outcome; Wound Healing

2020

Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

Nature medicine, 2006, Volume: 12, Issue:12

Topics: 3T3 Cells; Adult; Animals; Cell Adhesion Molecules; Cells, Cultured; Epidermal Cells; Epidermolysis Bullosa, Junctional; Feasibility Studies; Genetic Therapy; Genetic Vectors; Humans; Kalinin; Male; Mice; Retroviridae; Stem Cell Transplantation; Tissue Engineering

2006

Other Studies

102 other study(ies) available for tridemorph and Epidermolysis Bullosa, Junctional

Article	Year
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa. The Australasian journal of dermatology, 2022, Volume: 63, Issue:4 Topics: Asian People; Epidermolysis Bullosa, Junctional; Heterozygote; Humans; Kalinin; Laminin; Mutation	2022
Development of bullous pemphigoid in junctional epidermolysis bullosa. Journal of the European Academy of Dermatology and Venereology : JEADV, 2020, Volume: 34, Issue:3 Topics: Cell Adhesion Molecules; Drug Therapy, Combination; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Pemphigoid, Bullous; Treatment Outcome	2020
Genes, 2020, 09-07, Volume: 11, Issue:9 Topics: Animals; Australia; Cell Adhesion Molecules; Dogs; Epidermolysis Bullosa, Junctional; Female; Kalinin; Male; Mutation, Missense; Whole Genome Sequencing	2020
Topical gentamicin ointment induces LAMB3 nonsense mutation readthrough and improves corneal erosions in a patient with junctional epidermolysis bullosa. Clinical & experimental ophthalmology, 2021, Volume: 49, Issue:3 Topics: Cell Adhesion Molecules; Codon, Nonsense; Epidermolysis Bullosa, Junctional; Gentamicins; Humans; Kalinin; Mutation; Ointments	2021
Drug Development for Target Ribosomal Protein rpL35/uL29 for Repair of LAMB3R635X in Rare Skin Disease Epidermolysis Bullosa. Skin pharmacology and physiology, 2021, Volume: 34, Issue:4 Topics: Artesunate; Atazanavir Sulfate; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Molecular Docking Simulation; Protein Binding; Ribosomal Proteins; RNA, Messenger; Skin; Skin Physiological Phenomena	2021
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops. Genes, 2021, 05-11, Volume: 12, Issue:5 Topics: Amnion; Cell Adhesion; Cell Adhesion Molecules; Cells, Cultured; Child, Preschool; Corneal Dystrophies, Hereditary; Epidermolysis Bullosa, Junctional; Epithelium, Corneal; Female; Humans; Kalinin; Keratinocytes; Mutation; Ophthalmic Solutions; Phenotype; Skin	2021
Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations. Acta dermato-venereologica, 2021, Aug-24, Volume: 101, Issue:8 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Laminin; Mutation	2021
Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm. The British journal of dermatology, 2018, Volume: 178, Issue:6 Topics: Adult; Antibodies, Monoclonal; Cell Adhesion Molecules; EGF Family of Proteins; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Keratinocytes; Laminin; Male; Mutation; RNA Splice Sites	2018
Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation. The British journal of dermatology, 2018, Volume: 178, Issue:4 Topics: Cell Adhesion Molecules; Child; Epidermolysis Bullosa, Junctional; Fatal Outcome; Female; Homozygote; Humans; Kalinin; Laminin; Male; Mutation; Prognosis; RNA Splice Sites; Wound Healing	2018
Regeneration of the entire human epidermis using transgenic stem cells. Nature, 2017, 11-16, Volume: 551, Issue:7680 Topics: Cell Adhesion Molecules; Cell Differentiation; Cell Lineage; Cell Self Renewal; Cell Tracking; Child; Clone Cells; Dermis; Epidermal Cells; Epidermis; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Keratinocytes; Male; Proviruses; Regeneration; Stem Cells; Transgenes	2017
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia. Congenital anomalies, 2019, Volume: 59, Issue:3 Topics: Base Sequence; Cell Adhesion Molecules; Child; Child, Preschool; Consanguinity; Epidermolysis Bullosa, Junctional; Exons; Gene Expression; Heterozygote; Homozygote; Humans; Introns; Kalinin; Male; Mutation; Pedigree; Saudi Arabia; Siblings	2019
Gentamicin induces Proceedings of the National Academy of Sciences of the United States of America, 2018, 07-10, Volume: 115, Issue:28 Topics: Cell Adhesion Molecules; Codon, Nonsense; Epidermolysis Bullosa, Junctional; Gentamicins; HEK293 Cells; Humans; Integrin alpha6beta4; Kalinin; Keratinocytes; Mutagenesis	2018
Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa. Acta dermato-venereologica, 2018, Jul-11, Volume: 98, Issue:7 Topics: Anti-Bacterial Agents; Cell Adhesion Molecules; Child; Child, Preschool; Combined Modality Therapy; Epidermolysis Bullosa, Junctional; Female; Genetic Predisposition to Disease; Humans; Kalinin; Male; Mutation; Phenotype; RNA Splice Sites; Skin; Skin Transplantation; Staphylococcal Skin Infections; Steroids; Treatment Outcome; Wound Healing; Wound Infection	2018
CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient. Molecular therapy : the journal of the American Society of Gene Therapy, 2018, 11-07, Volume: 26, Issue:11 Topics: Animals; Basement Membrane; Cell Adhesion Molecules; CRISPR-Cas Systems; DNA Repair; DNA, Complementary; Epidermolysis Bullosa, Junctional; Gene Expression Regulation; Genetic Therapy; Humans; Introns; Kalinin; Keratinocytes; Laminin; Lentivirus; Mice; Mutation; RNA Editing	2018
Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring. Matrix biology : journal of the International Society for Matrix Biology, 2019, Volume: 80 Topics: Age of Onset; Amino Acid Substitution; Autoantigens; Binding Sites; Cell Adhesion; Cell Adhesion Molecules; Cell Movement; Cell Proliferation; Cells, Cultured; Collagen Type XVII; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Keratinocytes; Non-Fibrillar Collagens; Protein Binding; Protein Domains	2019
Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa. Medicine, 2018, Volume: 97, Issue:49 Topics: Adult; Asian People; Cell Adhesion Molecules; Diagnosis, Differential; Epidermolysis Bullosa, Junctional; Fatal Outcome; Female; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Kalinin; Male; Mutation; Pregnancy; Prenatal Diagnosis	2018
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European journal of human genetics : EJHG, 2014, Volume: 22, Issue:1 Topics: Amelogenesis Imperfecta; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Exome; Female; Frameshift Mutation; Genetic Linkage; High-Throughput Nucleotide Sequencing; Humans; Kalinin; Male; Pedigree	2014
Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families. Journal of dermatological science, 2013, Volume: 72, Issue:1 Topics: Adult; Amino Acid Sequence; Base Sequence; Case-Control Studies; Cell Adhesion Molecules; Child, Preschool; Collagen Type VII; Consanguinity; DNA Mutational Analysis; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Female; Homozygote; Humans; Kalinin; Lebanon; Male; Pedigree; Syria	2013
Successful therapeutic transplantation of revertant skin in epidermolysis bullosa. Journal of the American Academy of Dermatology, 2014, Volume: 70, Issue:1 Topics: Aged; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Genotype; Humans; Kalinin; Male; Mosaicism; Phenotype; Re-Epithelialization; Skin Transplantation	2014
A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration. The British journal of dermatology, 2014, Volume: 170, Issue:5 Topics: Cell Adhesion; Cell Adhesion Molecules; Cell Migration Assays; Cell Movement; Epidermolysis Bullosa, Junctional; Frameshift Mutation; Humans; Kalinin; Keratinocytes; Laminin; Male; Middle Aged	2014
Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity. Clinical genetics, 2015, Volume: 87, Issue:1 Topics: Amelogenesis Imperfecta; Base Sequence; Cell Adhesion Molecules; Child; Child, Preschool; Epidermolysis Bullosa, Junctional; Female; Genes, Dominant; Humans; Kalinin; Male; Molecular Sequence Data; Pedigree; Sequence Analysis, DNA; Tooth	2015
Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area. The Journal of dermatology, 2014, Volume: 41, Issue:4 Topics: Asian People; Base Sequence; Blister; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Humans; Infant, Newborn; Japan; Kalinin; Male; Mutation; Pedigree	2014
Processing of the laminin-332 α chain: from bedside to bench. The British journal of dermatology, 2014, Volume: 170, Issue:5 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Frameshift Mutation; Humans; Kalinin; Laminin; Male	2014
Junctional epidermolysis bullosa with LAMB3 splice-site mutations. Acta dermato-venereologica, 2015, Volume: 95, Issue:7 Topics: Adolescent; Adult; Base Sequence; Biopsy; Cell Adhesion Molecules; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Female; Genetic Markers; Genetic Predisposition to Disease; Humans; Kalinin; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; RNA Splice Sites; Skin	2015
A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries. The British journal of dermatology, 2016, Volume: 175, Issue:4 Topics: Amino Acid Substitution; Cell Adhesion Molecules; DNA, Complementary; Emigration and Immigration; Epidermolysis Bullosa, Junctional; Female; Founder Effect; France; Genome, Human; Germany; Haplotypes; Humans; Hungary; Infant; Italy; Kalinin; Male; Mutation; Phylogeography; Polymorphism, Single Nucleotide; RNA; RNA Splice Sites; Roma	2016
Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response. Acta dermato-venereologica, 2016, 11-02, Volume: 96, Issue:7 Topics: Cell Adhesion Molecules; Child; Epidermolysis Bullosa, Junctional; Granulation Tissue; Humans; Kalinin; Male	2016
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. The Journal of investigative dermatology, 2016, Volume: 136, Issue:11 Topics: Biopsy; Cell Adhesion Molecules; Decision Making; DNA; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Female; Follow-Up Studies; Genotype; Homozygote; Humans; Infant; Kalinin; Laminin; Male; Mutation; Retrospective Studies; Skin; Stem Cell Transplantation	2016
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. The British journal of dermatology, 2017, Volume: 176, Issue:4 Topics: Adolescent; Adult; Cell Adhesion Molecules; Child; Child, Preschool; Chile; Epidermolysis Bullosa, Junctional; Female; Genotype; Humans; Infant; Infant, Newborn; Kalinin; Male; Molecular Epidemiology; Mutation; Prevalence; Young Adult	2017
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. Journal of dermatological science, 2017, Volume: 86, Issue:1 Topics: Adolescent; Autoantigens; Cell Adhesion Molecules; Child; Child, Preschool; Collagen Type XVII; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Exome; Female; Genetic Association Studies; Genotype; High-Throughput Nucleotide Sequencing; Humans; India; Infant; Kalinin; Laminin; Male; Mutation; Non-Fibrillar Collagens; Phenotype; Sequence Analysis, DNA; Tertiary Care Centers	2017
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. The British journal of dermatology, 2010, Volume: 162, Issue:6 Topics: Cell Adhesion Molecules; Chromosomes, Human, 1-3; Epidermolysis Bullosa, Junctional; Female; Genetic Markers; Haplotypes; Humans; Kalinin; Polymerase Chain Reaction; Pregnancy; Preimplantation Diagnosis	2010
Observations of skin grafts derived from keratinocytes expressing selectively engineered mutant laminin-332 molecules. The Journal of investigative dermatology, 2010, Volume: 130, Issue:8 Topics: Animals; Cell Adhesion Molecules; Cells, Cultured; Dermis; Disease Models, Animal; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Keratinocytes; Mice; Protein Structure, Tertiary; Skin Transplantation; Transplantation, Heterologous	2010
A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PloS one, 2011, May-04, Volume: 6, Issue:5 Topics: Animals; Cell Adhesion Molecules; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Frameshift Mutation; Kalinin; Laminin; Polymorphism, Single Nucleotide; Sheep	2011
Laminin-332 coordinates mechanotransduction and growth cone bifurcation in sensory neurons. Nature neuroscience, 2011, Jul-03, Volume: 14, Issue:8 Topics: Adaptation, Physiological; Animals; Animals, Newborn; Axons; Cell Adhesion Molecules; Cells, Cultured; Coculture Techniques; Collagen Type VII; Epidermolysis Bullosa, Junctional; Ganglia, Spinal; Growth Cones; Humans; Kalinin; Keratinocytes; Lidocaine; Mechanotransduction, Cellular; Membrane Potentials; Mice; Microscopy, Atomic Force; Microscopy, Electron, Transmission; Neurofilament Proteins; Patch-Clamp Techniques; Physical Stimulation; Reaction Time; Sensory Receptor Cells; Skin; Sodium Channel Blockers; Tetrodotoxin; Time Factors; TRPV Cation Channels; Ubiquitin Thiolesterase	2011
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. The British journal of dermatology, 2011, Volume: 165, Issue:6 Topics: Cell Adhesion Molecules; Child, Preschool; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Female; Fluorescent Antibody Technique; Genotype; Heterozygote; Humans; Incidence; Infant; Kalinin; Laminin; Male; Microscopy, Electron; Mutation; Netherlands; Phenotype	2011
Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa. Gene therapy, 2012, Volume: 19, Issue:5 Topics: Amnion; Animals; Cell Adhesion Molecules; Disease Models, Animal; Epidermolysis Bullosa, Junctional; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Kalinin; Lentivirus; Mice; Phenotype; Skin	2012
Inherited junctional epidermolysis bullosa (Herlitz type) in German black-headed mutton sheep. Journal of comparative pathology, 2012, Volume: 146, Issue:4 Topics: Animals; Basement Membrane; Biomarkers; Cell Adhesion Molecules; Collagen Type VII; Epidermolysis Bullosa, Junctional; Female; Immunohistochemistry; Kalinin; Male; Microscopy, Electron, Transmission; Sheep; Sheep Diseases; Skin	2012
Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosa. Journal of the American Academy of Dermatology, 2013, Volume: 68, Issue:1 Topics: Adolescent; Adult; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Female; Foot Dermatoses; Hand Dermatoses; Humans; Kalinin; Male; Middle Aged; Quality of Life; Recurrence; Retrospective Studies; Skin Transplantation; Skin Ulcer	2013
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. The Journal of investigative dermatology, 2013, Volume: 133, Issue:2 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Genetic Therapy; Humans; Infant; Kalinin; Keratinocytes; Pluripotent Stem Cells; Transduction, Genetic	2013
Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family. The Australasian journal of dermatology, 2013, Volume: 54, Issue:3 Topics: Cell Adhesion Molecules; Codon, Nonsense; Epidermolysis Bullosa, Junctional; Fatal Outcome; Homozygote; Humans; Infant, Newborn; Jordan; Kalinin; Laminin; Male; Pedigree	2013
Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. The Journal of investigative dermatology, 2002, Volume: 119, Issue:3 Topics: Animals; Blister; Cell Adhesion Molecules; Disease Models, Animal; DNA, Complementary; Epidermolysis Bullosa, Junctional; Epithelium; Genotype; Horses; Humans; Joints; Kalinin; Laminin; Molecular Sequence Data; Pedigree; Point Mutation; Sequence Homology, Amino Acid	2002
Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. The Journal of pediatrics, 2002, Volume: 141, Issue:4 Topics: Biopsy; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Exons; Female; Follow-Up Studies; Humans; Infant; Infant Welfare; Kalinin; Mutation; Polymorphism, Genetic; Quality of Life; Sequence Analysis, DNA; Skin; Skin Transplantation; Skin, Artificial; Therapeutic Equivalency; Treatment Outcome; Wound Healing	2002
Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. Gene therapy, 2003, Volume: 10, Issue:13 Topics: Animals; Cell Adhesion Molecules; Desmosomes; DNA Transposable Elements; Epidermolysis Bullosa, Junctional; Genetic Therapy; Humans; Kalinin; Mice; Mice, SCID; Microscopy, Immunoelectron; Regeneration; Skin; Stem Cells	2003
PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. Human gene therapy, 2003, Jun-10, Volume: 14, Issue:9 Topics: Animals; Cell Adhesion Molecules; Cells, Cultured; Epidermolysis Bullosa, Junctional; Gene Expression; Genetic Therapy; Genetic Vectors; Humans; Integrases; Kalinin; Keratinocytes; Mice; Mice, SCID; Plasmids; Regeneration; Skin	2003
A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa. Biochemical and biophysical research communications, 2003, Sep-12, Volume: 309, Issue:1 Topics: Adult; Alleles; Amino Acid Sequence; Base Sequence; Blotting, Northern; Cell Adhesion; Cell Adhesion Molecules; Cells, Cultured; Codon, Nonsense; DNA Mutational Analysis; Endoplasmic Reticulum; Epidermolysis Bullosa, Junctional; Fathers; Female; Genes, Recessive; Glutamic Acid; Glycine; Heterozygote; Humans; Kalinin; Keratinocytes; Laminin; Male; Microscopy, Fluorescence; Microscopy, Immunoelectron; Models, Molecular; Molecular Sequence Data; Mothers; Mutation; Mutation, Missense; Peptides; Phenotype; Precipitin Tests; Protein Folding; Protein Structure, Tertiary; RNA, Messenger; Sequence Homology, Amino Acid	2003
Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. Laboratory investigation; a journal of technical methods and pathology, 2004, Volume: 84, Issue:10 Topics: Adult; Alternative Splicing; Base Sequence; Cell Adhesion Molecules; Codon, Nonsense; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Exons; Female; Humans; Kalinin; Male; Molecular Sequence Data; Nuclear Family; Pedigree; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger	2004
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. The Journal of investigative dermatology, 2004, Volume: 123, Issue:4 Topics: Base Sequence; Cell Adhesion Molecules; Codon, Nonsense; Cohort Studies; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Frameshift Mutation; Humans; Italy; Kalinin; Laminin; Molecular Sequence Data; Mutation, Missense; RNA Splice Sites; RNA, Messenger	2004
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Human genetics, 2005, Volume: 116, Issue:1-2 Topics: Amino Acid Substitution; Cell Adhesion Molecules; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Fluorescent Antibody Technique; Genes, Lethal; Humans; Kalinin; Protein Structure, Secondary	2005
[Dental alterations in junctional epidermolysis bullosa--report of a patient with a mutation in the LAMB3-gene]. Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG, 2005, Volume: 3, Issue:5 Topics: Adult; Cell Adhesion Molecules; Dental Care; Dental Caries; Dental Caries Susceptibility; Dental Enamel Hypoplasia; Epidermolysis Bullosa, Junctional; Female; Humans; Kalinin; Mutation; Radiography, Panoramic; Risk Factors; Tooth Abnormalities	2005
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. Journal of medical genetics, 2006, Volume: 43, Issue:8 Topics: Basement Membrane; Cell Adhesion Molecules; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Hemidesmosomes; Humans; Kalinin; Mutation	2006
Gene symbol: LAMB3. Disease: junctional epidermolysis bullosa, Herlitz variant. Human genetics, 2005, Volume: 118, Issue:3-4 Topics: Amino Acid Substitution; Basement Membrane; Biopsy; Cell Adhesion Molecules; Codon, Nonsense; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Mutation, Missense	2005
Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa. Journal of dermatological science, 2006, Volume: 44, Issue:1 Topics: Base Sequence; Cell Adhesion Molecules; DNA Mutational Analysis; DNA Primers; Epidermolysis Bullosa, Junctional; Female; Haplotypes; Humans; Infant, Newborn; Kalinin; Male; Molecular Sequence Data; Polymorphism, Single Nucleotide	2006
Evaluation of prenatal intra-amniotic LAMB3 gene delivery in a mouse model of Herlitz disease. Gene therapy, 2006, Volume: 13, Issue:23 Topics: Adenoviridae; Amnion; Animals; Animals, Newborn; Basement Membrane; Cell Adhesion Molecules; Dependovirus; Epidermolysis Bullosa, Junctional; Female; Gene Expression; Genetic Therapy; Genetic Vectors; Injections; Kalinin; Mice; Mice, Knockout; Models, Animal; Pregnancy; Skin; Transduction, Genetic; Transgenes	2006
Biological function of laminin-5 and pathogenic impact of its deficiency. European journal of cell biology, 2007, Volume: 86, Issue:11-12 Topics: Animals; Basement Membrane; Cell Adhesion Molecules; Cell Movement; Child; Child, Preschool; Epidermolysis Bullosa, Junctional; Female; Genotype; Humans; Kalinin; Keratinocytes; Mice; Mutation; Phenotype; Wound Healing	2007
[Gene therapy of junctional epidermolysis bullosa]. Medecine sciences : M/S, 2007, Volume: 23, Issue:1 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Genetic Therapy; Humans; Kalinin; Terminal Repeat Sequences	2007
Laminin-5-deficient human keratinocytes: defective adhesion results in a saltatory and inefficient mode of migration. Experimental cell research, 2007, May-01, Volume: 313, Issue:8 Topics: Cell Adhesion; Cell Adhesion Molecules; Cell Movement; Cell Polarity; Cell Shape; Cells, Cultured; Epidermolysis Bullosa, Junctional; Extracellular Matrix Proteins; Humans; Kalinin; Keratinocytes; Pseudopodia	2007
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. The British journal of dermatology, 2008, Volume: 158, Issue:1 Topics: Base Sequence; Cell Adhesion Molecules; Child; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Epitope Mapping; Female; Genotype; Heterozygote; Humans; Incidence; Infant; Infant, Newborn; Italy; Kalinin; Male; Mutation; Registries	2008
Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. Journal of dermatological science, 2008, Volume: 51, Issue:1 Topics: Adult; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Female; Homozygote; Humans; Infant; Kalinin; Male; Mutation, Missense; Uniparental Disomy	2008
Ultrastructural findings in epidermolysis bullosa. Archives of dermatology, 1993, Volume: 129, Issue:12 Topics: Antigens, Surface; Basement Membrane; Cell Adhesion Molecules; Cell Membrane; Collagen; Cytoskeleton; Desmosomes; Epidermis; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa, Junctional; Humans; Integrin alpha6beta4; Integrins; Kalinin; Keratinocytes; Keratins; Langerhans Cells; Melanocytes; Microscopy, Electron; Skin	1993
The assembly of laminin-5 subunits. The Journal of biological chemistry, 1995, Oct-06, Volume: 270, Issue:40 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Glycosylation; Humans; Kalinin; Keratinocytes; Kinetics; Models, Biological; Molecular Weight; Protein Conformation; Protein Processing, Post-Translational; Recombinant Proteins; Tumor Cells, Cultured; Tunicamycin	1995
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Human molecular genetics, 1995, Volume: 4, Issue:5 Topics: Base Sequence; Cell Adhesion Molecules; DNA Primers; Epidermolysis Bullosa, Junctional; Female; Homozygote; Humans; Infant; Kalinin; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction	1995
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. Genomics, 1995, Jan-01, Volume: 25, Issue:1 Topics: Base Sequence; Cell Adhesion Molecules; Cell Line; Cloning, Molecular; Epidermolysis Bullosa, Junctional; Exons; Female; Gene Library; Humans; Introns; Kalinin; Macromolecular Substances; Molecular Sequence Data; Placenta; Pregnancy; Restriction Mapping; RNA Splicing; Sequence Homology, Nucleic Acid	1995
Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa. The Journal of investigative dermatology, 1995, Volume: 104, Issue:3 Topics: Base Sequence; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Exons; Female; Gene Deletion; Humans; Kalinin; Male; Molecular Sequence Data; Mutation; Polymerase Chain Reaction	1995
Keratinocytes from junctional epidermolysis bullosa do adhere and migrate on the basement membrane protein nicein through alpha 3 beta 1 integrin. Laboratory investigation; a journal of technical methods and pathology, 1994, Volume: 71, Issue:4 Topics: Adult; Cell Adhesion; Cell Adhesion Molecules; Cell Movement; Cells, Cultured; Epidermolysis Bullosa, Junctional; Female; Fluorescent Antibody Technique; Humans; Image Processing, Computer-Assisted; Integrin alpha3beta1; Integrins; Kalinin; Keratinocytes; Laminin	1994
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nature genetics, 1994, Volume: 6, Issue:3 Topics: Base Sequence; Cell Adhesion Molecules; DNA Primers; DNA, Complementary; Epidermolysis Bullosa, Junctional; Exons; Female; Genes, Recessive; Homozygote; Humans; Kalinin; Laminin; Male; Molecular Sequence Data; Molecular Structure; Mutation; Pedigree; Point Mutation; Sequence Deletion	1994
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nature genetics, 1994, Volume: 6, Issue:3 Topics: Base Sequence; Cell Adhesion Molecules; DNA Primers; Epidermolysis Bullosa, Junctional; Female; Gene Expression; Genetic Linkage; Humans; Kalinin; Laminin; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Pedigree; Repetitive Sequences, Nucleic Acid	1994
Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome. Journal of the American Academy of Dermatology, 1994, Volume: 31, Issue:3 Pt 1 Topics: Adult; Antibodies, Monoclonal; Antigens; Autoantigens; Basement Membrane; Biopsy; Carrier Proteins; Cell Adhesion Molecules; Collagen; Collagen Type XVII; Cytoskeletal Proteins; Dystonin; Epidermolysis Bullosa, Junctional; Female; Humans; Immunohistochemistry; Infant, Newborn; Kalinin; Male; Nerve Tissue Proteins; Non-Fibrillar Collagens; Pregnancy; Prenatal Diagnosis; Pylorus; Skin; Syndrome	1994
The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31. Genomics, 1994, May-01, Volume: 21, Issue:1 Topics: Cell Adhesion Molecules; Cell Line; Chromosome Mapping; Chromosomes, Human, Pair 1; Epidermolysis Bullosa, Junctional; Genes; Humans; In Situ Hybridization; Kalinin; Laminin	1994
Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression. The Journal of clinical investigation, 1994, Volume: 93, Issue:2 Topics: Blotting, Northern; Cell Adhesion Molecules; Cells, Cultured; Epidermolysis Bullosa, Junctional; Fetus; Fluorescent Antibody Technique; Gene Expression; Humans; Infant, Newborn; Kalinin; Keratinocytes; Macromolecular Substances; Reference Values; RNA, Messenger; Skin	1994
Nicein (BM-600) in junctional epidermolysis bullosa: polyclonal antibodies provide new clues for pathogenic role. The Journal of investigative dermatology, 1993, Volume: 101, Issue:5 Topics: Antibodies; Antibody Specificity; Cell Adhesion Molecules; Cells, Cultured; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Fluorescent Antibody Technique; Humans; Kalinin; Microscopy, Immunoelectron	1993
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. Genomics, 1995, Sep-01, Volume: 29, Issue:1 Topics: Base Sequence; Cell Adhesion Molecules; Child; Chorionic Villi Sampling; DNA Mutational Analysis; DNA Primers; Epidermolysis Bullosa, Junctional; Female; Homozygote; Humans; Kalinin; Macromolecular Substances; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis	1995
Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients. The British journal of dermatology, 1995, Volume: 133, Issue:5 Topics: Antigens, Surface; Cell Adhesion Molecules; Collagen; Epidermolysis Bullosa, Junctional; Female; Humans; Immunohistochemistry; Infant, Newborn; Integrin alpha6beta4; Integrins; Kalinin; Male; Microscopy, Electron; Pylorus; Syndrome	1995
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. Genomics, 1995, Nov-20, Volume: 30, Issue:2 Topics: 3T3 Cells; Animals; Base Sequence; Cell Adhesion Molecules; Cells, Cultured; Cloning, Molecular; Codon, Terminator; DNA, Complementary; Epidermolysis Bullosa, Junctional; Female; Frameshift Mutation; Homozygote; Humans; Kalinin; Laminin; Male; Mice; Molecular Sequence Data; Pedigree; Sequence Deletion	1995
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis. Prenatal diagnosis, 1995, Volume: 15, Issue:11 Topics: Amniocentesis; Amniotic Fluid; Blotting, Western; Cell Adhesion; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Female; Humans; Kalinin; Keratinocytes; Pregnancy	1995
Establishment and characterization of cell line LSV5 that retains the altered adhesive properties of human junctional epidermolysis bullosa keratinocytes. Experimental cell research, 1996, May-01, Volume: 224, Issue:2 Topics: 3T3 Cells; Animals; Basement Membrane; Cell Adhesion; Cell Adhesion Molecules; Cell Division; Cell Line, Transformed; Cell Membrane; Cell Movement; Cell Transformation, Viral; Epidermal Cells; Epidermolysis Bullosa, Junctional; Fluorescent Antibody Technique; Humans; Injections, Subcutaneous; Isomerism; Kalinin; Keratinocytes; Laminin; Mice; Mice, Nude; Microscopy, Electron; Mutation; Phenotype; Simian virus 40	1996
Functional Re-expression of laminin-5 in laminin-gamma2-deficient human keratinocytes modifies cell morphology, motility, and adhesion. The Journal of biological chemistry, 1996, Aug-02, Volume: 271, Issue:31 Topics: Animals; Cell Adhesion; Cell Adhesion Molecules; Cell Line; Cell Movement; Cell Size; DNA, Complementary; Epidermolysis Bullosa, Junctional; Gene Expression; Genetic Vectors; Humans; Kalinin; Keratinocytes; Laminin; Mice; Mice, Nude; Phenotype; Recombinant Proteins; Transfection	1996
Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia. The Journal of investigative dermatology, 1996, Volume: 107, Issue:3 Topics: Adult; Antibodies, Monoclonal; Antigens, Surface; Blotting, Western; Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Epitopes; Female; Fetus; Humans; Immunoenzyme Techniques; Infant; Infant, Newborn; Integrin alpha6beta4; Integrins; Kalinin; Male; Pylorus; Skin; Staining and Labeling	1996
Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenatal diagnosis, 1997, Volume: 17, Issue:4 Topics: Amniotic Fluid; Cell Adhesion Molecules; Chorionic Villi Sampling; DNA; Epidermolysis Bullosa, Junctional; Female; Fetal Diseases; Genotype; Humans; Infant; Infant, Newborn; Kalinin; Male; Mutation; Pedigree; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis	1997
Laminin-6 and laminin-5 are recognized by autoantibodies in a subset of cicatricial pemphigoid. The Journal of investigative dermatology, 1997, Volume: 108, Issue:6 Topics: Adult; Autoantibodies; Basement Membrane; Blotting, Western; Cell Adhesion Molecules; Cells, Cultured; Collagen; Epidermolysis Bullosa, Junctional; Female; Humans; Kalinin; Keratinocytes; Laminin; Microscopy, Fluorescence; Microscopy, Immunoelectron; Pemphigoid, Benign Mucous Membrane; Precipitin Tests; Skin	1997
Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. The British journal of dermatology, 1997, Volume: 136, Issue:6 Topics: Adolescent; Adult; Aged; Antibodies, Monoclonal; Cell Adhesion Molecules; Child; Child, Preschool; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Genes, Lethal; Genes, Recessive; Humans; Immunohistochemistry; Infant; Kalinin; Microscopy, Fluorescence; Middle Aged; Mutation; Skin	1997
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. The Journal of investigative dermatology, 1997, Volume: 109, Issue:2 Topics: Antigens; Autoantigens; Cell Adhesion Molecules; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Epitopes; Europe; Fluorescent Antibody Technique, Direct; Fluorescent Antibody Technique, Indirect; Humans; Kalinin; Molecular Sequence Data; Mutation; Prospective Studies	1997
IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. Mammalian genome : official journal of the International Mammalian Genome Society, 1997, Volume: 8, Issue:9 Topics: Animals; Blotting, Northern; Cell Adhesion Molecules; Chromosome Mapping; Disease Models, Animal; DNA Transposable Elements; Epidermolysis Bullosa, Junctional; Female; Gene Expression Regulation, Developmental; Kalinin; Male; Mice; Mice, Inbred C3H; Mice, Inbred Strains; Mutation; Phenotype; Polymerase Chain Reaction; Skin; Skin Diseases	1997
LAD-1 is absent in a subset of junctional epidermolysis bullosa patients. The Journal of investigative dermatology, 1997, Volume: 109, Issue:3 Topics: Autoantibodies; Autoantigens; Cell Adhesion Molecules; Cells, Cultured; Collagen Type XVII; Culture Media, Conditioned; Epidermolysis Bullosa, Junctional; Fluorescent Antibody Technique, Indirect; Humans; Kalinin; Keratinocytes; Microfilament Proteins; Non-Fibrillar Collagens; Precipitin Tests; Radioimmunoassay; Skin	1997
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. American journal of human genetics, 1997, Volume: 61, Issue:3 Topics: Alleles; Cell Adhesion Molecules; Chromosome Aberrations; Chromosome Mapping; Chromosomes, Human, Pair 1; Epidermolysis Bullosa, Junctional; Female; Haplotypes; Heterozygote; Homozygote; Humans; Infant, Newborn; Kalinin; Male; Pedigree; Point Mutation	1997
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Biochemical and biophysical research communications, 1998, Feb-24, Volume: 243, Issue:3 Topics: Base Sequence; Blotting, Northern; Cell Adhesion Molecules; Child, Preschool; Epidermolysis Bullosa, Junctional; Fluorescent Antibody Technique; Gene Deletion; Heterozygote; Humans; Kalinin; Male; Mutation; Pedigree; Polymerase Chain Reaction; RNA Precursors; RNA Splicing; RNA-Directed DNA Polymerase; RNA, Messenger	1998
Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype. The Journal of experimental medicine, 1998, Apr-20, Volume: 187, Issue:8 Topics: Adult; Cell Adhesion Molecules; Child; Codon, Terminator; Epidermolysis Bullosa, Junctional; Humans; Infant; Kalinin; Keratinocytes; Models, Molecular; Mutation; Phenotype; Polymerase Chain Reaction; Protein Binding; Protein Conformation; RNA, Messenger; Sequence Analysis, DNA	1998
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. The Journal of investigative dermatology, 1998, Volume: 110, Issue:5 Topics: Cell Adhesion Molecules; Chromosome Aberrations; Chromosomes, Human, Pair 1; Epidermolysis Bullosa, Junctional; Fatal Outcome; Female; Genotype; Homozygote; Humans; Infant, Newborn; Kalinin; Maternal-Fetal Exchange; Mutation; Pregnancy	1998
Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain. The EMBO journal, 1998, Jul-15, Volume: 17, Issue:14 Topics: Animals; Antigens, CD; Antigens, Surface; Basement Membrane; Cell Adhesion; Cell Adhesion Molecules; Cell Cycle; Cell Cycle Proteins; Cells, Cultured; Cyclin-Dependent Kinase Inhibitor p27; Cytoplasm; Cytoskeleton; Desmosomes; Duodenum; Epidermolysis Bullosa, Junctional; Integrin alpha6beta4; Integrin beta4; Integrins; Intestinal Mucosa; Kalinin; Keratinocytes; Mice; Mice, Knockout; Microtubule-Associated Proteins; Pylorus; Sequence Deletion; Skin; Tumor Suppressor Proteins	1998
Laminin gamma2 expression is developmentally regulated during murine tooth morphogenesis and is intense in ameloblasts. Journal of dental research, 1998, Volume: 77, Issue:8 Topics: Ameloblasts; Amelogenesis; Animals; Antibodies, Monoclonal; Cell Adhesion Molecules; Cell Differentiation; Dental Enamel Hypoplasia; Epidermolysis Bullosa, Junctional; Gene Expression Regulation, Developmental; In Situ Hybridization; Kalinin; Mice; Peptide Fragments; Rabbits; Tooth Germ; Up-Regulation	1998
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. The British journal of dermatology, 1998, Volume: 139, Issue:2 Topics: Adult; Cell Adhesion Molecules; Child, Preschool; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Male; Mutation; Phenotype	1998
Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. The Journal of cell biology, 1999, Jun-14, Volume: 145, Issue:6 Topics: Ameloblasts; Animals; Animals, Newborn; Basement Membrane; Cell Adhesion; Cell Adhesion Molecules; Cell Differentiation; Cell Survival; Cells, Cultured; Desmosomes; Epidermolysis Bullosa, Junctional; Epithelial Cells; Gene Deletion; Genes, Lethal; Humans; Incisor; Integrins; Kalinin; Keratinocytes; Laminin; Mice; Mice, Knockout; Protein Isoforms; Skin	1999
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. The Journal of investigative dermatology, 1999, Volume: 113, Issue:3 Topics: Adolescent; Adult; Cell Adhesion Molecules; Collagen; Desmosomes; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Exons; Female; Fluorescent Antibody Technique; Frameshift Mutation; Humans; Kalinin; Microscopy, Electron; Mutation; Phenotype; Reverse Transcriptase Polymerase Chain Reaction; Skin	1999
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. American journal of human genetics, 1999, Volume: 65, Issue:6 Topics: Alleles; Autoantigens; Carrier Proteins; Cell Adhesion Molecules; Child, Preschool; Codon, Terminator; Collagen; Collagen Type XVII; Cytoskeletal Proteins; Dystonin; Epidermolysis Bullosa, Junctional; Female; Genes, Lethal; Genetic Heterogeneity; Genetic Linkage; Heterozygote; Humans; Infant; Kalinin; Male; Mutation; Nerve Tissue Proteins; Non-Fibrillar Collagens; Pedigree; RNA Stability; RNA, Messenger; Skin	1999
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. Human mutation, 1998, Volume: 12, Issue:4 Topics: Cell Adhesion Molecules; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Mutation; Polymorphism, Genetic	1998
[Gene therapy for hereditary bullous epidermolysis]. Annales de dermatologie et de venereologie, 2000, Volume: 127, Issue:3 Topics: Cell Adhesion Molecules; Cells, Cultured; Epidermolysis Bullosa, Junctional; Gene Expression Regulation; Genetic Therapy; Humans; Kalinin; Keratinocytes	2000
In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. Proceedings of the National Academy of Sciences of the United States of America, 2001, Apr-24, Volume: 98, Issue:9 Topics: Basement Membrane; Cell Adhesion Molecules; Cell Division; Cell Polarity; Cell Size; Cells, Cultured; Epidermolysis Bullosa, Junctional; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Humans; Kalinin; Keratinocytes; Kinetics; Regeneration; Skin; Stem Cells	2001
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. Clinical and experimental dermatology, 2001, Volume: 26, Issue:2 Topics: Cell Adhesion Molecules; Codon, Nonsense; Epidermolysis Bullosa, Junctional; Gene Deletion; Humans; Infant, Newborn; Kalinin; Sequence Analysis, DNA	2001
Impact of laminin 5 beta3 gene versus protein replacement on gene expression patterns in junctional epidermolysis bullosa. Human gene therapy, 2001, Jul-20, Volume: 12, Issue:11 Topics: Antigens, CD; Base Sequence; Biopsy; Cell Adhesion Molecules; Cells, Cultured; Epidermolysis Bullosa, Junctional; Gene Expression Profiling; Gene Expression Regulation; Gene Transfer Techniques; Genetic Therapy; Genetic Vectors; Green Fluorescent Proteins; Humans; Integrin beta3; Integrins; Kalinin; Keratinocytes; Kinetics; Luminescent Proteins; Microscopy, Fluorescence; Molecular Sequence Data; Oligonucleotide Array Sequence Analysis; Platelet Membrane Glycoproteins; Retroviridae; Transduction, Genetic	2001
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Human molecular genetics, 2001, Oct-01, Volume: 10, Issue:21 Topics: Age Factors; Base Sequence; Cell Adhesion Molecules; Cells, Cultured; Child; Codon, Nonsense; DNA; DNA Mutational Analysis; Epidermolysis Bullosa, Junctional; Family Health; Female; Gene Expression; Humans; Kalinin; Keratinocytes; Laminin; Male; Mutation; Pedigree; RNA, Messenger; Sequence Deletion; Severity of Illness Index; Skin	2001
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Human genetics, 2002, Volume: 110, Issue:1 Topics: Adolescent; Adult; Alternative Splicing; Cell Adhesion Molecules; Child; Codon, Terminator; DNA Primers; Epidermolysis Bullosa, Junctional; Exons; Female; Gene Deletion; Genetic Variation; Genomic Imprinting; Humans; Infant; Kalinin; Male; Pedigree; Phenotype; Protein Subunits; Reverse Transcriptase Polymerase Chain Reaction; Skin	2002
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. Journal of the American Academy of Dermatology, 2002, Volume: 46, Issue:4 Topics: Autoantigens; Carrier Proteins; Cell Adhesion Molecules; Collagen; Collagen Type XVII; Consanguinity; Cytoskeletal Proteins; Dystonin; Epidermolysis Bullosa, Junctional; Humans; Kalinin; Middle East; Mutation; Nerve Tissue Proteins; Non-Fibrillar Collagens; Polymerase Chain Reaction; Sequence Analysis, DNA; Skin	2002
The 6/2 (AA3) polyclonal antibody identifying a 37 kD keratinocyte protein reacts also with BM-600/nicein, the basement membrane component bound by the monoclonal antibody GB3. Experimental dermatology, 1992, Volume: 1, Issue:1 Topics: Antibodies; Antibodies, Monoclonal; Antigens; Basement Membrane; Cell Adhesion Molecules; Cells, Cultured; Epidermolysis Bullosa, Junctional; Humans; Immunoblotting; Kalinin; Keratinocytes; Molecular Weight; Precipitin Tests; Proteins	1992
Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients. Experimental dermatology, 1992, Volume: 1, Issue:5 Topics: Basement Membrane; Cell Adhesion Molecules; Cells, Cultured; Epidermis; Epidermolysis Bullosa, Junctional; Fetus; Fluorescent Antibody Technique; Humans; Infant; Kalinin; Keratinocytes; Laminin; Reference Values	1992