Compounds > cysteine

cysteine and Hirschsprung Disease

cysteine has been researched along with Hirschsprung Disease in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's6 (54.55)18.2507
2000's1 (9.09)29.6817
2010's1 (9.09)24.3611
2020's3 (27.27)2.80

Authors

AuthorsStudies
Goldman, A; Liu, Y; Ribeiro, OC; Robinson, J1
Aiello, CM; Antona, V; Cimador, M; Corsello, G; Giuffrè, M; Piro, E; Schierz, IAM1
Dralle, H; Lorenz, K; Machens, A1
Hanrahan, S; Kjaer, S; McDonald, NQ; Totty, N1
Fitze, G1
Gagel, RF1
Clayton, D; Cote, G; Eng, C; Fink, M; Frank-Raue, K; Gagel, RF; Hendy, GN; Komminoth, P; Lenoir, G; Lips, CJ; Marsh, DJ; Mulligan, LM; Niederle, B; Nishisho, I; Noll, WW; Nordenskjöld, M; Pacini, F; Raue, F; Robinson, BG; Romei, C; Schuffenecker, I; Takai, SI; van Amstel, HK; Xue, F; Zedenius, J1
Asai, N; Ito, S; Iwashita, T; Iwata, Y; Murakami, H; Sobue, G; Takahashi, M1
Antiñolo, G; Borrego, S; Eng, C; Navarro, E; Sáez, ME; Sánchez, B1
Attié, T; Billaud, M; Chappuis-Flament, S; De Vita, G; Fusco, A; Lenoir, GM; Pasini, A; Santoro, M; Ségouffin-Cariou, C1
Bauters, C; Buisine, MP; Calender, A; Caron, P; Crepin, M; Giraud, S; Houcke, ML; Kerckaert, JP; Pigny, P; Porchet, N; Wemeau, JL1

Reviews

2 review(s) available for cysteine and Hirschsprung Disease

ArticleYear
Management of patients with hereditary medullary thyroid carcinoma.
    European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie, 2004, Volume: 14, Issue:6

    Topics: Carcinoma, Medullary; Chromosome Mapping; Cysteine; Genetic Counseling; Hirschsprung Disease; Humans; Multiple Endocrine Neoplasia Type 2a; Mutation, Missense; Oncogene Proteins; Proto-Oncogene Mas; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases; Risk Assessment; Signal Transduction; Thyroid Neoplasms; Thyroidectomy

2004
Putting the bits and pieces of the RET proto-oncogene puzzle together.
    Bone, 1995, Volume: 17, Issue:2 Suppl

    Topics: Amino Acid Sequence; Base Sequence; Carcinoma; Cysteine; Drosophila Proteins; Gene Expression; Hirschsprung Disease; Humans; Male; Molecular Sequence Data; Multiple Endocrine Neoplasia Type 2a; Multiple Endocrine Neoplasia Type 2b; Phosphorylation; Point Mutation; Protein-Tyrosine Kinases; Proto-Oncogene Mas; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases; Thyroid Neoplasms

1995

Other Studies

9 other study(ies) available for cysteine and Hirschsprung Disease

ArticleYear
Expression and purification of the extracellular domain of wild-type humanRET and the dimeric oncogenic mutant C634R.
    International journal of biological macromolecules, 2020, Dec-01, Volume: 164

    Topics: Animals; Carcinogenesis; Cell Line; Cysteine; Disulfides; HEK293 Cells; Hirschsprung Disease; Humans; Mammals; Multiple Endocrine Neoplasia Type 2a; Mutation; Parkinson Disease; Protein Domains; Proto-Oncogene Proteins c-ret; Recombinant Proteins; Signal Transduction

2020
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.
    Italian journal of pediatrics, 2020, Sep-18, Volume: 46, Issue:1

    Topics: Cleft Palate; Cysteine; Germ-Line Mutation; Hirschsprung Disease; Humans; Infant, Newborn; Italy; Janus Kinases; Male; Proto-Oncogene Mas; Proto-Oncogene Proteins c-ret

2020
Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene.
    Endocrine, 2021, Volume: 73, Issue:1

    Topics: Cysteine; Exons; Hirschsprung Disease; Humans; Kidney; Mutation; Proto-Oncogene Mas; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Proto-Oncogenes

2021
Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations.
    Nature structural & molecular biology, 2010, Volume: 17, Issue:6

    Topics: Amino Acid Sequence; Animals; Cysteine; Endoplasmic Reticulum; Genetic Association Studies; Hirschsprung Disease; Humans; Mammals; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Phylogeny; Protein Folding; Protein Interaction Domains and Motifs; Protein Multimerization; Protein Processing, Post-Translational; Proto-Oncogene Proteins c-ret; Sequence Homology, Amino Acid; Static Electricity

2010
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
    JAMA, 1996, Nov-20, Volume: 276, Issue:19

    Topics: Carcinoma, Medullary; Codon; Cysteine; Drosophila Proteins; Hirschsprung Disease; Humans; Hyperparathyroidism; Multiple Endocrine Neoplasia Type 2a; Mutation; Phenotype; Pheochromocytoma; Proto-Oncogene Mas; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases; Thyroid Neoplasms

1996
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
    Cancer research, 1997, Jul-15, Volume: 57, Issue:14

    Topics: 3T3 Cells; Animals; Carcinoma, Medullary; Cysteine; Drosophila Proteins; Hirschsprung Disease; Humans; Mice; Molecular Weight; Multiple Endocrine Neoplasia Type 2a; Mutation; Phenotype; Proto-Oncogene Mas; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Proto-Oncogenes; Receptor Protein-Tyrosine Kinases; Thyroid Neoplasms

1997
Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease.
    The Journal of clinical endocrinology and metabolism, 1998, Volume: 83, Issue:9

    Topics: Aged; Child, Preschool; Cysteine; DNA; Drosophila Proteins; Female; Glial Cell Line-Derived Neurotrophic Factor; Glial Cell Line-Derived Neurotrophic Factor Receptors; Hirschsprung Disease; Humans; Male; Middle Aged; Multiple Endocrine Neoplasia Type 2a; Nerve Growth Factors; Nerve Tissue Proteins; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases

1998
Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.
    Oncogene, 1998, Dec-03, Volume: 17, Issue:22

    Topics: 3T3 Cells; Amino Acid Substitution; Animals; Cell Transformation, Neoplastic; Cysteine; Dimerization; Disulfides; Drosophila Proteins; Glycosylation; Hirschsprung Disease; Humans; Membrane Proteins; Mice; Models, Biological; Multiple Endocrine Neoplasia Type 2a; PC12 Cells; Phosphotyrosine; Precipitin Tests; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Rats; Receptor Protein-Tyrosine Kinases; Transcriptional Activation

1998
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.
    The Journal of clinical endocrinology and metabolism, 1999, Volume: 84, Issue:5

    Topics: Adult; Carcinoma, Medullary; Child; Coatomer Protein; Cysteine; Exons; Female; Germ-Line Mutation; Hirschsprung Disease; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Pedigree; Reverse Transcriptase Polymerase Chain Reaction; Thyroid Neoplasms

1999