cysteine and Marfan Syndrome, Type I

cysteine has been researched along with Marfan Syndrome, Type I 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, Type I

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, Type I

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