cysteine and Marfan Syndrome

cysteine has been researched along with Marfan Syndrome in 23 studies

Research

Studies (23)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	11 (47.83)	18.2507
2000's	5 (21.74)	29.6817
2010's	5 (21.74)	24.3611
2020's	2 (8.70)	2.80

Authors

Authors	Studies
Backx, ACPM; Blom, NA; Bokenkamp, R; Hilhorst-Hofstee, Y; Menke, LA; Pals, G; van der Hulst, AE; van Elsäcker, E; Vink, AS	1
Burnyte, B; Gegieckiene, R; Kemezyte, A	1
Balogh, I; Brúgós, B; Fekete, G; Koczok, K; Madar, L; Oláh, É; Papp, J; Pfliegler, G; Ronen, N; Szabó, GP; Szakos, E; Szakszon, K; Zahuczky, K	1
Fan, L; Gao, L; Tian, T; Wang, R; Wu, H; Zhou, X	1
Chan, AK; Chan, HH; Kozenko, M; Lostracco, R; Stevic, I	1
Breuning, MH; Cobben, JM; Giroth, C; Hamel, BC; Hansson, KB; Hilhorst-Hofstee, Y; Mancini, GM; Moll, HA; Pals, G; Rijlaarsdam, ME; Ruivenkamp, CA; Timmermans, J; Verheij, JB	1
Fan, W; Liang, C; Liu, Y; Wu, S	1
Iida, M; Kubo, H; Mochizuki, H; Takakura, H; Yanagisawa, T; Yasuhara, T	1
Arslan-Kirchner, M; Haverich, A; Karck, M; Müller, G; Rommel, K; Rybczynski, M; Schmidtke, J; Singh, KK; von Kodolitsch, Y	1
Jiang, J; Jin, C; Shentu, X; Tang, X; Wu, R; Yao, K	1
Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ	1
Milewicz, DM; Putnam, EA; Ramirez, F; Zhang, H	1
Keene, DR; Sakai, LY	1
Cadle, RG; Dietz, HC; Francomano, CA; Hall, BD; McIntosh, I; Piersall, LD; Pyeritz, RE	1
Kainulainen, K; Kristofersson, U; Peltonen, L; Saxne, T; Ståhl-Hallengren, C; Tornqvist, K; Ukkonen, T	1
Berg, MA; Comeau, K; Francke, U; Gasner, C; Levitt, D; Miller, DC; Pearson, M; Tynan, K; Wilgenbus, P	1
Bonadio, J; D'Alessio, M; Lynch, JR; Pangilinan, T; Pereira, L; Ramirez, F; Sykes, B	1
Booms, P; Boxer, M; Hagemeier, C; Kaufmann, UC; Robinson, PN; Vetter, U; Withers, AP	1
Baty, DU; Black, C; Boxer, M; Bridges, AB; Craig, A; Gray, JR; Withers, AP	1
Cole, WG; McGrory, J	1
Brenn, T; Francke, U; Furthmayr, H; Liu, W; Schrijver, I	1
Handford, PA; Hutchinson, S; Wordsworth, BP	1
Cutting, GR; Dietz, HC; Francomano, CA; Pyeritz, RE; Saraiva, JM	1

Trials

1 trial(s) available for cysteine and Marfan Syndrome

Article	Year
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. Human molecular genetics, 1994, Volume: 3, Issue:6 Topics: Amino Acid Sequence; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 15; Cysteine; DNA Primers; Epidermal Growth Factor; Fibrillins; Genetic Variation; Humans; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Polymerase Chain Reaction	1994

Article

Year

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred.

Human molecular genetics, 1994, Volume: 3, Issue:6

Topics: Amino Acid Sequence; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 15; Cysteine; DNA Primers; Epidermal Growth Factor; Fibrillins; Genetic Variation; Humans; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Polymerase Chain Reaction

1994

Other Studies

22 other study(ies) available for cysteine and Marfan Syndrome

Article	Year
Growth of the aortic root in children and young adults with Marfan syndrome. Open heart, 2022, Volume: 9, Issue:2 Topics: Aorta, Thoracic; Aortic Diseases; Child; Cysteine; Female; Humans; Male; Marfan Syndrome; Phenotype	2022
Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome. BMC pediatrics, 2023, 10-28, Volume: 23, Issue:1 Topics: Child; Child, Preschool; Cysteine; Fibrillins; Genotype; Humans; Infant, Newborn; Marfan Syndrome; Mutation; Phenotype; Prognosis	2023
FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies. Journal of biotechnology, 2019, Aug-10, Volume: 301 Topics: Adolescent; Adult; Child; Child, Preschool; Cohort Studies; Cysteine; DNA Mutational Analysis; Female; Fibrillin-1; Humans; Infant; Male; Marfan Syndrome; Middle Aged; Mutation; Young Adult	2019
Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations. International journal of cardiology, 2019, 10-15, Volume: 293 Topics: Adult; Aortic Aneurysm; Asian People; China; Cysteine; Female; Fibrillin-1; Genetic Association Studies; Humans; Male; Marfan Syndrome; Mutation; Symptom Assessment	2019
Phenotype presentation for a novel mutation affecting a conserved cysteine residue in exon 63 of fibrillin-1 (Cys2633Arg). Biochemical genetics, 2014, Volume: 52, Issue:5-6 Topics: Adult; Amino Acid Sequence; Conserved Sequence; Cysteine; Exons; Female; Fibrillin-1; Fibrillins; Genetic Association Studies; Humans; Male; Marfan Syndrome; Microfilament Proteins; Middle Aged; Mutation; Pedigree; Phenotype	2014
The clinical spectrum of complete FBN1 allele deletions. European journal of human genetics : EJHG, 2011, Volume: 19, Issue:3 Topics: Adolescent; Adult; Alleles; Child; Child, Preschool; Cysteine; Ectopia Lentis; Female; Fibrillin-1; Fibrillins; Haploinsufficiency; Humans; Male; Marfan Syndrome; Microfilament Proteins; Mitral Valve Prolapse; Mutation; Phenotype; Sequence Deletion; Young Adult	2011
Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Molecular vision, 2011, Volume: 17 Topics: Adult; Aged; Amino Acid Substitution; Arginine; Asian People; Base Sequence; Cysteine; DNA Mutational Analysis; Ectopia Lentis; Exons; Female; Fibrillin-1; Fibrillins; Genes, Dominant; Humans; Lens, Crystalline; Male; Marfan Syndrome; Microfilament Proteins; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation	2011
Two Japanese brothers with hereditary gamma-glutamyl transpeptidase deficiency. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Borohydrides; Chromatography, High Pressure Liquid; Cysteine; Dipeptides; Family Health; gamma-Glutamyltransferase; Glutathione; Humans; Japan; Male; Marfan Syndrome; Middle Aged; Siblings; Time Factors	2005
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Human mutation, 2005, Volume: 26, Issue:6 Topics: Amino Acid Sequence; Cysteine; DNA Mutational Analysis; Fibrillin-1; Fibrillins; Genetic Testing; Genotype; Humans; Marfan Syndrome; Meta-Analysis as Topic; Microfilament Proteins; Mutation; Phenotype; Polymorphism, Genetic	2005
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Molecular vision, 2007, Jul-24, Volume: 13 Topics: Adolescent; Adult; Amino Acid Substitution; Arginine; Asian People; Base Sequence; Child; Cysteine; DNA Mutational Analysis; Ectopia Lentis; Female; Fibrillin-1; Fibrillins; Genetic Predisposition to Disease; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Mutation; Pedigree	2007
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational Analysis; Exons; Female; Folic Acid; Genetic Testing; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Marfan Syndrome; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Oxidoreductases; Pedigree; Phenotype; Treatment Outcome; Vitamin B 12; Vitamin B 6; Vitamins	2007
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature genetics, 1995, Volume: 11, Issue:4 Topics: Base Sequence; Cell Line; Cysteine; DNA Mutational Analysis; Epidermal Growth Factor; Fibrillin-1; Fibrillin-2; Fibrillins; Fibroblasts; Humans; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Point Mutation; Polymorphism, Single-Stranded Conformational; Protein Structure, Tertiary; Repetitive Sequences, Nucleic Acid	1995
Fibrillin: monomers and microfibrils. Methods in enzymology, 1994, Volume: 245 Topics: Alternative Splicing; Amino Acid Sequence; Cells, Cultured; Chromatography, Affinity; Cysteine; Disulfides; Epidermal Growth Factor; Extracellular Matrix Proteins; Fibrillins; Fluorescent Antibody Technique; Humans; Marfan Syndrome; Microfilament Proteins; Microscopy, Electron; Molecular Sequence Data; Mutation; Protein Conformation	1994
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome. The Journal of clinical investigation, 1994, Volume: 94, Issue:2 Topics: Adult; Base Sequence; Calcium; Chromosomes, Human, Pair 15; Cysteine; Epidermal Growth Factor; Fibrillin-1; Fibrillins; Genetic Linkage; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Mutation; Pedigree	1994
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Human molecular genetics, 1993, Volume: 2, Issue:11 Topics: Adolescent; Adult; Amino Acid Sequence; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 15; Consensus Sequence; Cysteine; DNA Primers; Family; Female; Fibrillin-1; Fibrillins; Genes, Dominant; Humans; Introns; Male; Marfan Syndrome; Microfilament Proteins; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Sequence Deletion; Skin	1993
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Human molecular genetics, 1993, Volume: 2, Issue:7 Topics: Amino Acid Sequence; Base Sequence; Carrier Proteins; Chromosome Mapping; Chromosomes, Fungal; Cloning, Molecular; Cysteine; DNA; Epidermal Growth Factor; Exons; Fibrillins; Gene Library; Genome, Human; Humans; Intracellular Signaling Peptides and Proteins; Latent TGF-beta Binding Proteins; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Repetitive Sequences, Nucleic Acid; Transforming Growth Factor beta	1993
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. Human genetics, 1997, Volume: 100, Issue:2 Topics: Adolescent; Adult; Cysteine; Exons; Female; Fibrillin-1; Fibrillins; Genetic Testing; Humans; Marfan Syndrome; Microfilament Proteins; Mutation; Time Factors	1997
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. Human mutation, 1998, Volume: Suppl 1 Topics: Amino Acid Sequence; Amino Acid Substitution; Arginine; Base Sequence; Cysteine; DNA; DNA Mutational Analysis; Family Health; Female; Fibrillin-1; Fibrillins; Humans; Male; Marfan Syndrome; Microfilament Proteins; Pedigree; Phenotype; Point Mutation; Polymorphism, Single-Stranded Conformational	1998
Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome. Clinical genetics, 1999, Volume: 55, Issue:2 Topics: Alternative Splicing; Amino Acid Sequence; Base Sequence; Child; Cysteine; Exons; Fibrillin-1; Fibrillins; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Sequence Deletion	1999
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. American journal of human genetics, 1999, Volume: 65, Issue:4 Topics: Adolescent; Adult; Age of Onset; Aged; Alleles; Amino Acid Substitution; Cells, Cultured; Child; Child, Preschool; Cysteine; Disulfides; DNA Mutational Analysis; Epidermal Growth Factor; Exons; Fibrillin-1; Fibrillins; Fibroblasts; Genes, Lethal; Genotype; Humans; Infant, Newborn; Marfan Syndrome; Microfilament Proteins; Middle Aged; Molecular Sequence Data; Mutation; Phenotype; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger	1999
Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. Human genetics, 2001, Volume: 109, Issue:4 Topics: Adult; Alternative Splicing; Amino Acid Sequence; Base Sequence; Cysteine; DNA Mutational Analysis; Exons; Fibrillin-1; Fibrillins; Fibroblasts; Heteroduplex Analysis; Humans; Male; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Mutagenesis, Insertional; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger	2001
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Human mutation, 1992, Volume: 1, Issue:5 Topics: Amino Acid Sequence; Base Sequence; Cysteine; DNA; DNA Mutational Analysis; Epidermal Growth Factor; Fibrillin-1; Fibrillins; Humans; Marfan Syndrome; Microfilament Proteins; Molecular Sequence Data; Molecular Structure; Phenotype; Polymerase Chain Reaction; Polymorphism, Genetic; Repetitive Sequences, Nucleic Acid	1992