glycine has been researched along with Cockayne-Touraine Disease in 46 studies
| 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 Cockayne-Touraine Disease
| 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 Cockayne-Touraine Disease
| 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 |