Compounds > cysteine

cysteine and Genetic Diseases

cysteine has been researched along with Genetic Diseases in 8 studies

Research

Studies (8)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	4 (50.00)	18.2507
2000's	3 (37.50)	29.6817
2010's	1 (12.50)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Ahmad, R; Blackinton, J; Cookson, MR; Greggio, E; Lakshminarasimhan, M; Raza, AS; Thomas, KJ; Wilson, MA	1
Clark, L; Logan, T; Ray, SS	1
Lawless, MW; Mankan, AK; Norris, S	1
Auer-Grumbach, M; Bagg, W; Colclough, K; Ellard, S; Fenton-May, J; Hattersley, A; Hudson, J; Jardine, P; Josifova, D; Longman, C; McWilliam, R; Nguyen, TD; Owen, K; Rankin, J; Walker, M; Wehnert, M	1
Arai, K; Chrousos, GP; DiGeorge, AM; Latronico, AC; Rapaport, R; Tsigos, C	1
Burlingame, AL; Fainzilber, M; Nakamura, T; Yu, Z	1
Choi, CR; Kim, HK; Kim, HS; Park, Q; Park, YS; Song, KS	1
Jouanolle, AM; Pinson, S; Plauchu, H; Turlin, B; Yaouanq, J	1

Other Studies

8 other study(ies) available for cysteine and Genetic Diseases

Article	Year
Formation of a stabilized cysteine sulfinic acid is critical for the mitochondrial function of the parkinsonism protein DJ-1. The Journal of biological chemistry, 2009, Mar-06, Volume: 284, Issue:10 Topics: Amino Acid Substitution; Animals; Cell Line, Tumor; Cysteine; Genetic Diseases, Inborn; Glutamic Acid; Humans; Intracellular Signaling Peptides and Proteins; Mice; Mitochondrial Proteins; Mutation; Oncogene Proteins; Oxidation-Reduction; Parkinson Disease; Protein Deglycase DJ-1; Sulfinic Acids	2009
Engineered disulfide bonds restore chaperone-like function of DJ-1 mutants linked to familial Parkinson's disease. Biochemistry, 2010, Jul-13, Volume: 49, Issue:27 Topics: alpha-Synuclein; Cysteine; Genetic Diseases, Inborn; Humans; Intracellular Signaling Peptides and Proteins; Molecular Chaperones; Mutation; Oncogene Proteins; Parkinson Disease; Protein Deglycase DJ-1; Protein Structure, Tertiary; Proteins	2010
Hereditary hemochromatosis should be considered a conformational disorder. Medical hypotheses, 2008, Volume: 70, Issue:4 Topics: Alleles; Cysteine; Disulfides; Genetic Diseases, Inborn; Hemochromatosis; Hemochromatosis Protein; Histocompatibility Antigens Class I; Homozygote; Humans; Membrane Proteins; Models, Genetic; Models, Theoretical; Mutation; Protein Conformation; Protein Folding; Risk	2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. American journal of medical genetics. Part A, 2008, Jun-15, Volume: 146A, Issue:12 Topics: Adolescent; Adult; Amino Acid Substitution; Arginine; Child; Cysteine; Female; Genetic Diseases, Inborn; Humans; Lamin Type A; Male; Middle Aged; Mutation, Missense; Penetrance; Phenotype	2008
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. The Journal of clinical endocrinology and metabolism, 1995, Volume: 80, Issue:7 Topics: Adenine; Adolescent; Adult; Amino Acid Sequence; Base Sequence; Cell Membrane; Cysteine; DNA; DNA Primers; Female; Genes, Recessive; Genetic Carrier Screening; Genetic Diseases, Inborn; Glucocorticoids; Guanine; Homozygote; Humans; Male; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Protein Structure, Secondary; Receptors, Corticotropin; Syndrome; Tyrosine	1995
Mass spectrometric-based revision of the structure of a cysteine-rich peptide toxin with gamma-carboxyglutamic acid, TxVIIA, from the sea snail, Conus textile. Protein science : a publication of the Protein Society, 1996, Volume: 5, Issue:3 Topics: 1-Carboxyglutamic Acid; Amino Acid Sequence; Amino Acids; CD40 Ligand; Computer Graphics; Cysteine; Endopeptidases; Genetic Diseases, Inborn; Humans; Immunoglobulin M; Membrane Glycoproteins; Metalloendopeptidases; Models, Molecular; Molecular Sequence Data; Molecular Weight; Mollusk Venoms; Mutation; omega-Conotoxins; Organophosphorus Compounds; Peptides; Protein Binding; Protein Conformation; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization	1996
Hereditary protein C deficiency with recurrent thrombosis: identification of a missense mutation (C6218T). Journal of Korean medical science, 1998, Volume: 13, Issue:2 Topics: Adult; Cysteine; Female; Genetic Diseases, Inborn; Humans; Male; Pedigree; Point Mutation; Protein C; Protein C Deficiency; Recurrence; Threonine; Thrombosis	1998
Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis. Journal of medical genetics, 1998, Volume: 35, Issue:11 Topics: Adult; Amino Acid Substitution; Cysteine; Female; Genetic Diseases, Inborn; Genetic Heterogeneity; Hemochromatosis; Humans; Iron Overload; Male; Middle Aged; Tyrosine	1998