Compounds > arginine

arginine and Cockayne-Touraine Disease

arginine has been researched along with Cockayne-Touraine Disease in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's5 (50.00)18.2507
2000's4 (40.00)29.6817
2010's1 (10.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
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, AJ1
Ishiko, A; Masunaga, T; Murata, T; Nishikawa, T; Shimizu, H1
Mallipeddi, R; McGrath, JA; South, AP; Wessagowit, V1
Iwata, T; Nakano, A; Nakano, H; Tamai, K; Tomita, Y; Toyomaki, Y1
Angelo, C; Cavalieri, R; Christiano, AM; Mazzanti, C; Morricone, A; Paradisi, M; Uitto, J1
Blanchet-Bardon, C; Christiano, AM; de Prost, Y; Goossens, M; Hilal, L; Hovnanian, A; Uitto, J1
Chen, YF; Lee, JY; Liu, HS; Pulkkinen, L; Uitto, J1
Barrandon, Y; Bodemer, C; Christiano, AM; de Prost, Y; Fraitag, S; Hovnanian, A; Lathrop, M; Petit, E; Prost, C; Rivers, CA; Rochat, A; Uitto, J1
Christiano, AM; Cserhalmi-Friedman, PB; Horvath, A; Karpati, S1
Chao, SC; Lee, JY; Li, C; Pulkkinen, L; Uitto, J1

Other Studies

10 other study(ies) available for arginine and Cockayne-Touraine Disease

ArticleYear
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
    Journal of medical genetics, 2011, Volume: 48, Issue:3

    Topics: Adolescent; Amino Acid Substitution; Arginine; Child; Child, Preschool; Cohort Studies; Collagen Type VII; Epidermolysis Bullosa Dystrophica; Genes, Recessive; Genetic Association Studies; Genotype; Glycine; Humans; Infant; Mutation, Missense; Phenotype; Skin

2011
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
    Archives of dermatological research, 2004, Volume: 295, Issue:10

    Topics: Alanine; Arginine; Asian People; Collagen Type VII; Cysteine; Epidermolysis Bullosa Dystrophica; Gene Deletion; Gene Frequency; Global Health; Glutamic Acid; Glycine; Humans; Japan; Mutation; Recurrence; United Kingdom

2004
Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.
    Clinical and experimental dermatology, 2004, Volume: 29, Issue:6

    Topics: Adult; Arginase; Arginine; Chronic Disease; Epidermolysis Bullosa Dystrophica; Female; Gene Expression; Gene Expression Profiling; Humans; Male; Oligonucleotide Array Sequence Analysis; Skin; Wound Healing

2004
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
    The Journal of dermatology, 2006, Volume: 33, Issue:8

    Topics: Arginine; Asian People; Collagen Type VII; DNA Mutational Analysis; DNA Restriction Enzymes; Epidermolysis Bullosa Dystrophica; Glycine; Humans; Infant; Infant, Newborn; Male; Mutation, Missense

2006
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.
    The Journal of investigative dermatology, 1995, Volume: 104, Issue:3

    Topics: Arginine; Base Sequence; Collagen; DNA; Epidermolysis Bullosa Dystrophica; Female; Genes, Dominant; Glycine; Humans; Male; Molecular Sequence Data; Nucleic Acid Heteroduplexes; Pedigree; Point Mutation

1995
Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.
    American journal of human genetics, 1994, Volume: 55, Issue:2

    Topics: Adolescent; Algorithms; Arginine; Base Sequence; Blotting, Southern; Child; Child, Preschool; Collagen; DNA Mutational Analysis; DNA Primers; Electrophoresis, Polyacrylamide Gel; Epidermolysis Bullosa Dystrophica; Female; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction

1994
A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa.
    The Journal of investigative dermatology, 1997, Volume: 108, Issue:6

    Topics: Adult; Arginine; Base Sequence; China; Collagen; DNA; DNA Primers; Epidermolysis Bullosa Dystrophica; Exons; Female; Gene Amplification; Genes, Dominant; Glycine; Humans; Male; Mutation; Pedigree; Polymerase Chain Reaction

1997
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
    American journal of human genetics, 1997, Volume: 61, Issue:3

    Topics: Alleles; Arginine; Basement Membrane; Codon, Terminator; Collagen; Epidermolysis Bullosa Dystrophica; Gene Expression; Genes, Recessive; Genotype; Glycine; Humans; Keratinocytes; Mutation; RNA Splicing; RNA, Messenger; Skin

1997
Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.
    Experimental dermatology, 1997, Volume: 6, Issue:6

    Topics: Alleles; Amino Acid Substitution; Arginine; Collagen; Epidermolysis Bullosa Dystrophica; Exons; Family Health; Female; Fingers; Genes; Glycine; Heterozygote; Humans; Hungary; Male; Nails; Pedigree; Point Mutation; Sequence Analysis, DNA; Skin; Toes

1997
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
    Archives of dermatological research, 2000, Volume: 292, Issue:4

    Topics: Alleles; Amino Acid Substitution; Arginine; Base Sequence; Collagen; Epidermolysis Bullosa Dystrophica; Exons; Female; Glycine; Heteroduplex Analysis; Humans; Infant; Microscopy, Electron; Mutation; Mutation, Missense; Pedigree; Polymerase Chain Reaction; Skin

2000