glycine has been researched along with Epidermolysis Bullosa Dystrophica in 46 studies
Epidermolysis Bullosa Dystrophica: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the triple helix of COL7A1 although other missense mutations, deletions or splice-site mutations may underlie some cases." | 2.44 | Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. ( Dang, N; Murrell, DF, 2008) |
| "As in all other forms of dystrophic epidermolysis bullosa, the molecular pathology involves mutations in the gene encoding the anchoring fibril protein, type VII collagen (COL7A1), but there is no clear genotype-phenotype correlation in EBP." | 2.44 | Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. ( Ee, HL; Goh, CL; Liu, L; McGrath, JA, 2007) |
| "The inversa type of recessive dystrophic epidermolysis bullosa (RDEB-I) is a rare variant of dystrophic epidermolysis bullosa, characterised by blistering in the body flexures, trunk, and mucosa." | 1.37 | The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. ( Dopping-Hepenstal, PJ; Hofstra, RM; Jonkman, MF; Liu, L; Martinez, AE; McGrath, JA; Meijer, R; Mellerio, JE; Scheffer, H; van den Akker, PC; van Essen, AJ, 2011) |
| "A recent description of dystrophic epidermolysis bullosa (DEB) in Golden Retriever dogs provided details of the principal clinical, morphological and genetic features." | 1.33 | [Characterization of a canine model of dystrophic bullous epidermolysis (DBE). Development of a gene therapy protocol]. ( Gache, Y; Lacour, JP; Magnol, JP; Meneguzzi, G; Palazzi, X; Pin, D, 2005) |
| "An autosomal dystrophic epidermolysis bullosa (DDEB) is a hereditary mechanobullous disease characterized by blistering of the skin and the mucous membrane." | 1.33 | Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1). ( Iwata, T; Nakano, A; Nakano, H; Tamai, K; Tomita, Y; Toyomaki, Y, 2006) |
| "COL7A1 gene mutations cause dystrophic epidermolysis bullosa, a skin blistering disorder." | 1.30 | Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. ( Bruckner-Tuderman, L; Hammami-Hauasli, N; Kilgus, O; Luger, T; Lüthi, U; Raghunath, M; Schumann, H, 1998) |
| "The dominant dystrophic epidermolysis bullosa phenotype in this family probably arose because of a dominant negative effect of this mutation in COL7A1, resulting in the formation of structurally abnormal anchoring fibrils." | 1.29 | A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. ( Angelo, C; Cavalieri, R; Christiano, AM; Mazzanti, C; Morricone, A; Paradisi, M; Uitto, J, 1995) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 16 (34.78) | 18.2507 |
| 2000's | 19 (41.30) | 29.6817 |
| 2010's | 10 (21.74) | 24.3611 |
| 2020's | 1 (2.17) | 2.80 |
| Authors | Studies |
|---|---|
| Baardman, R | 1 |
| Bremer, J | 1 |
| Diercks, GFH | 1 |
| Jan, SZ | 1 |
| Lemmink, HH | 1 |
| Bolling, MC | 1 |
| Van den Akker, PC | 2 |
| Atanasova, VS | 1 |
| Pourreyron, C | 1 |
| Farshchian, M | 1 |
| Lawler, M | 1 |
| Brown, CA | 1 |
| Watt, SA | 1 |
| Wright, S | 1 |
| Warkala, M | 1 |
| Guttmann-Gruber, C | 1 |
| Hofbauer, JP | 1 |
| Fuentes, I | 1 |
| Prisco, M | 1 |
| Rashidghamat, E | 1 |
| Has, C | 3 |
| Salas-Alanis, JC | 2 |
| Palisson, F | 1 |
| Hovnanian, A | 3 |
| McGrath, JA | 7 |
| Mellerio, JE | 4 |
| Bauer, JW | 2 |
| South, AP | 1 |
| Nishie, W | 1 |
| Natsuga, K | 1 |
| Nakamura, H | 3 |
| Ito, T | 1 |
| Toyonaga, E | 1 |
| Sato, H | 1 |
| Shimizu, H | 8 |
| Turczynski, S | 1 |
| Titeux, M | 1 |
| Pironon, N | 1 |
| Cohn, HI | 1 |
| Murrell, DF | 2 |
| Dang, N | 1 |
| Martinez, AE | 2 |
| Liu, L | 3 |
| Meijer, R | 1 |
| Dopping-Hepenstal, PJ | 2 |
| van Essen, AJ | 1 |
| Scheffer, H | 1 |
| Hofstra, RM | 1 |
| Jonkman, MF | 3 |
| Leverkus, M | 1 |
| Ambach, A | 1 |
| Hoefeld-Fegeler, M | 1 |
| Kohlhase, J | 2 |
| Schmidt, E | 1 |
| Schumann, H | 2 |
| Gollnick, H | 1 |
| Almaani, N | 1 |
| Lai-Cheong, JE | 1 |
| Wong, A | 1 |
| Nanda, A | 1 |
| Moss, C | 1 |
| Uitto, J | 14 |
| Jiang, W | 2 |
| Sun, TT | 1 |
| Lei, PC | 1 |
| Zhu, XJ | 1 |
| Takiyoshi, N | 1 |
| Nakano, H | 2 |
| Sawamura, D | 4 |
| Tang, ZL | 1 |
| Lin, ZM | 1 |
| Wang, HJ | 1 |
| Chen, Q | 1 |
| Xu, XM | 1 |
| Ge, HF | 1 |
| Yang, Y | 1 |
| Zhang, XJ | 1 |
| Song, YX | 1 |
| Zhang, XQ | 1 |
| Yang, S | 1 |
| Li, M | 1 |
| Li, CR | 1 |
| Yang, CJ | 1 |
| Yang, J | 1 |
| Kim, J | 1 |
| Kim, SC | 1 |
| Yasukawa, K | 2 |
| Murata, T | 2 |
| Masunaga, T | 4 |
| Ishiko, A | 2 |
| Nishikawa, T | 3 |
| Goto, M | 1 |
| Sato-Matsumura, KC | 2 |
| LaDuca, J | 1 |
| Lee, JY | 4 |
| Persikov, AV | 1 |
| Pillitteri, RJ | 1 |
| Amin, P | 1 |
| Schwarze, U | 1 |
| Byers, PH | 1 |
| Brodsky, B | 1 |
| Magnol, JP | 1 |
| Pin, D | 1 |
| Palazzi, X | 1 |
| Lacour, JP | 1 |
| Gache, Y | 1 |
| Meneguzzi, G | 1 |
| Iwata, T | 1 |
| Nakano, A | 1 |
| Toyomaki, Y | 1 |
| Tamai, K | 2 |
| Tomita, Y | 2 |
| Mochitomi, Y | 1 |
| Kanzaki, T | 1 |
| Broekaert, SM | 1 |
| Knauss-Scherwitz, E | 1 |
| Biedermann, T | 1 |
| Metzler, G | 1 |
| Röcken, M | 1 |
| Schaller, M | 1 |
| Wang, Y | 2 |
| Zhao, J | 1 |
| Tu, P | 1 |
| Zhu, X | 1 |
| Ee, HL | 1 |
| Goh, CL | 1 |
| Deng, W | 1 |
| Chen, S | 1 |
| Lu, C | 1 |
| Zhou, X | 1 |
| Hu, B | 1 |
| Chen, M | 2 |
| Lai, W | 1 |
| Woodley, DT | 1 |
| Hou, Y | 1 |
| Martin, S | 1 |
| Li, W | 1 |
| Christiano, AM | 9 |
| Morricone, A | 1 |
| Paradisi, M | 1 |
| Angelo, C | 1 |
| Mazzanti, C | 1 |
| Cavalieri, R | 1 |
| Chen, WJ | 1 |
| LaForgia, S | 1 |
| Tan, KC | 1 |
| Bart, BJ | 1 |
| Epstein, EH | 1 |
| Kon, A | 3 |
| Pulkkinen, L | 6 |
| Nomura, K | 2 |
| Nakamura, T | 1 |
| Maekawa, Y | 1 |
| Hashimoto, I | 3 |
| Liu, HS | 1 |
| Chen, YF | 1 |
| Rochat, A | 1 |
| Bodemer, C | 1 |
| Petit, E | 1 |
| Rivers, CA | 1 |
| Prost, C | 1 |
| Fraitag, S | 1 |
| Lathrop, M | 1 |
| Barrandon, Y | 1 |
| de Prost, Y | 1 |
| Cserhalmi-Friedman, PB | 3 |
| Karpati, S | 2 |
| Horvath, A | 2 |
| Hammami-Hauasli, N | 1 |
| Raghunath, M | 1 |
| Kilgus, O | 1 |
| Lüthi, U | 1 |
| Luger, T | 1 |
| Bruckner-Tuderman, L | 3 |
| Terracina, M | 1 |
| Posteraro, P | 1 |
| Schubert, M | 1 |
| Sonego, G | 1 |
| Atzori, F | 1 |
| Zambruno, G | 1 |
| Castiglia, D | 1 |
| Rouan, F | 2 |
| Talamantes, ML | 1 |
| Horn, H | 1 |
| Tidman, MJ | 1 |
| Ashton, GH | 1 |
| Eady, RA | 1 |
| Grossman, J | 1 |
| Ahmad, W | 1 |
| Moreno, G | 1 |
| Oranje, AP | 1 |
| Takizawa, Y | 2 |
| Li, C | 1 |
| Chao, SC | 1 |
| Hatta, N | 1 |
| Nordal, EJ | 1 |
| Mecklenbeck, S | 1 |
| Hausser, I | 1 |
| Skranes, J | 1 |
| Gedde-Dahl , T | 1 |
2 reviews available for glycine and Epidermolysis Bullosa Dystrophica
| Article | Year |
|---|---|
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Collagen Type VII; DNA Mutational Analy | 2008 |
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Topics: Adolescent; Adult; Amino Acid Substitution; Asian People; Child; Collagen Type VII; Diagnosis, Diffe | 2007 |
44 other studies available for glycine and Epidermolysis Bullosa Dystrophica
| Article | Year |
|---|---|
Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa.
Topics: Collagen Type VII; Epidermolysis Bullosa Dystrophica; Glycine; Humans; Male; Middle Aged; Mutation; | 2021 |
Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
Topics: Antineoplastic Agents; Apoptosis; Carcinoma, Squamous Cell; Cell Cycle Proteins; Epidermolysis Bullo | 2019 |
A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.
Topics: Amino Acid Substitution; Cells, Cultured; Collagen Type VII; Cytoplasm; DNA Mutational Analysis; Epi | 2014 |
Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.
Topics: Amino Acid Substitution; Child; Collagen Type VII; Epidermolysis Bullosa Dystrophica; Glycine; Heter | 2016 |
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
Topics: Adolescent; Amino Acid Substitution; Arginine; Child; Child, Preschool; Cohort Studies; Collagen Typ | 2011 |
Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
Topics: Adult; Collagen Type VII; Epidermolysis Bullosa Dystrophica; Exons; Female; Glycine; Humans; Mutatio | 2011 |
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Topics: Adolescent; Adult; Amino Acid Substitution; Biopsy; Child; Child, Preschool; Collagen Type VII; Data | 2011 |
In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.
Topics: Amino Acid Substitution; Collagen Type VII; DNA Mutational Analysis; Epidermolysis Bullosa Dystrophi | 2011 |
Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.
Topics: Adult; Amino Acid Substitution; Asian People; Child; China; Collagen Type VII; DNA Mutational Analys | 2012 |
Epidermolysis bullosa pruriginosa with marked phenotypic heterogeneity caused by a recurrent glycine substitution: Incomplete penetrance or a latent case?
Topics: Amino Acid Substitution; Base Sequence; Child; Collagen Type VII; Epidermolysis Bullosa; Epidermolys | 2012 |
Four novel and two recurrent glycine substitution mutations in the COL7A1 gene in Chinese patients with epidermolysis bullosa pruriginosa.
Topics: Adolescent; Amino Acid Substitution; Asian People; China; Collagen Type VII; Epidermolysis Bullosa; | 2013 |
A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa.
Topics: Adolescent; China; Collagen Type VII; DNA Mutational Analysis; Epidermolysis Bullosa Dystrophica; Fe | 2003 |
Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa.
Topics: Amino Acid Substitution; Asian People; Codon, Terminator; Collagen Type VII; Epidermolysis Bullosa D | 2003 |
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
Topics: Alanine; Arginine; Asian People; Collagen Type VII; Cysteine; Epidermolysis Bullosa Dystrophica; Gen | 2004 |
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
Topics: Adult; Amino Acid Substitution; Collagen Type VII; Epidermolysis Bullosa Dystrophica; Family Health; | 2004 |
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
Topics: Amino Acid Substitution; Amino Acids; Collagen; Collagen Diseases; Collagen Type I; Collagen Type I, | 2004 |
[Characterization of a canine model of dystrophic bullous epidermolysis (DBE). Development of a gene therapy protocol].
Topics: Animals; Disease Models, Animal; Dogs; Epidermolysis Bullosa Dystrophica; Female; Genetic Therapy; G | 2005 |
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
Topics: Arginine; Asian People; Collagen Type VII; DNA Mutational Analysis; DNA Restriction Enzymes; Epiderm | 2006 |
Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
Topics: Amino Acid Substitution; Base Sequence; Codon; Collagen Type VII; DNA Mutational Analysis; Epidermol | 2006 |
Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.
Topics: Adult; Amino Acid Substitution; Collagen Type VII; Epidermolysis Bullosa Dystrophica; Female; Glycin | 2006 |
A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa.
Topics: Adult; Asian People; Collagen Type VII; DNA; Epidermolysis Bullosa Dystrophica; Female; Glycine; Hum | 2007 |
A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.
Topics: Adult; Asian People; Aspartic Acid; China; Collagen Type VII; DNA Mutational Analysis; Epidermolysis | 2008 |
Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.
Topics: Cell Adhesion; Cell Line; Cell Movement; Collagen Type VII; Epidermolysis Bullosa Dystrophica; Fibro | 2008 |
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
Topics: Arginine; Base Sequence; Collagen; DNA; Epidermolysis Bullosa Dystrophica; Female; Genes, Dominant; | 1995 |
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
Topics: Base Sequence; Chromosomes, Human, Pair 3; Collagen; Cysteine; DNA Primers; Epidermolysis Bullosa Dy | 1995 |
Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.
Topics: Adult; Base Sequence; Child, Preschool; Collagen; DNA Mutational Analysis; Epidermolysis Bullosa Dys | 1996 |
Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene.
Topics: Amino Acid Sequence; Collagen; Epidermolysis Bullosa Dystrophica; Glycine; Humans; Mutation; Nucleic | 1996 |
Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Topics: Adult; Biopsy; Child; Collagen; Electrophoresis; Epidermolysis Bullosa Dystrophica; Exons; Family He | 1997 |
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
Topics: Adult; Arginine; Base Sequence; China; Collagen; DNA; DNA Primers; Epidermolysis Bullosa Dystrophica | 1997 |
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Topics: Alleles; Arginine; Basement Membrane; Codon, Terminator; Collagen; Epidermolysis Bullosa Dystrophica | 1997 |
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
Topics: Adult; Alleles; Collagen; Dimerization; Epidermolysis Bullosa Dystrophica; Family Health; Female; Ge | 1997 |
Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
Topics: Alleles; Amino Acid Substitution; Arginine; Collagen; Epidermolysis Bullosa Dystrophica; Exons; Fami | 1997 |
Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
Topics: Adult; Amino Acid Sequence; Amino Acid Substitution; Blister; Child; Collagen; Epidermolysis Bullosa | 1998 |
Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa.
Topics: Amino Acid Substitution; Collagen; DNA Mutational Analysis; Epidermolysis Bullosa Dystrophica; Exons | 1998 |
Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.
Topics: Amino Acid Substitution; Collagen; Epidermolysis Bullosa Dystrophica; Genes, Dominant; Genetic Couns | 1998 |
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
Topics: Adult; Child, Preschool; Collagen; Epidermolysis Bullosa Dystrophica; Female; Glycine; Heteroduplex | 1998 |
Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?
Topics: Amino Acid Substitution; Child; Collagen; Epidermolysis Bullosa Dystrophica; Female; Genes, Dominant | 1999 |
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.
Topics: Base Sequence; Collagen; Diseases in Twins; DNA; Epidermolysis Bullosa Dystrophica; Female; Glycine; | 1999 |
Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).
Topics: Amino Acid Substitution; Child; Collagen; DNA Mutational Analysis; Epidermolysis Bullosa Dystrophica | 1999 |
Combination of novel premature termination codon and glycine substitution mutations in COL7A1 leads to moderately severe recessive dystrophic epidermolysis bullosa.
Topics: Amino Acid Substitution; Base Sequence; Child; Codon; Collagen; Epidermolysis Bullosa Dystrophica; G | 2000 |
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
Topics: Alleles; Amino Acid Substitution; Arginine; Base Sequence; Collagen; Epidermolysis Bullosa Dystrophi | 2000 |
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.
Topics: Adult; Amino Acid Substitution; Child; Codon; Collagen; Epidermolysis Bullosa Dystrophica; Female; G | 2000 |
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
Topics: Collagen; Consanguinity; Epidermolysis Bullosa Dystrophica; Exons; Female; Glycine; Homozygote; Huma | 2001 |
Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.
Topics: Adult; Aged; Amino Acid Substitution; Collagen Type VII; Epidermolysis Bullosa Dystrophica; Female; | 2002 |