Associated Papers
Molecular dynamics investigation of cysteine mutations: Effects on calcium ion affinity and structural stability in the RET cysteine-rich domain.
R B et al.
Journal of Molecular Graphics & Modelling, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 2025
Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study.
Song A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
Panda G et al.
Frontiers in Pharmacology, 2022
Roles of the RET Proto-oncogene in Cancer and Development.
Takahashi M et al.
Jma Journal, 2020
Defects in the calcium-binding region drastically affect the cadherin-like domains of RET tyrosine kinase.
Gao C et al.
Physical Chemistry Chemical Physics : Pccp, 2016
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Toledo RA et al.
Endocrine-related Cancer, 2015
Functional and structural impact of the most prevalent missense mutations in classic galactosemia.
Coelho AI et al.
Molecular Genetics & Genomic Medicine, 2014
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
Jannot AS et al.
European Journal of Human Genetics : Ejhg, 2012
Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Crockett DK et al.
Genome Medicine, 2012
[Molecular biology, basic research and diagnosis of Hirschsprung's disease].
Martucciello G et al.
Der Pathologe, 2007
Multiplex tetra-primer amplification refractory mutation system PCR to detect 6 common germline mutations of the MUTYH gene associated with polyposis and colorectal cancer.
Piccioli P et al.
Clinical Chemistry, 2006
RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.
Asai N et al.
Pathology International, 2006
Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.
Sangkhathat S et al.
Journal of Human Genetics, 2006
Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET.
Kjaer S et al.
Human Molecular Genetics, 2003
The pathogenesis of Hirschsprung disease.
Belknap WM
Current Opinion in Gastroenterology, 2002
Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site.
Anders J et al.
The Journal of Biological Chemistry, 2001
The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease.
Bordeaux MC et al.
The Embo Journal, 2000
[From monogenic to polygenic: model of Hirschsprung disease].
Salomon R et al.
Pathologie-biologie, 1998
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
Pelet A et al.
The Journal of Clinical Investigation, 1998
Hirschsprung's disease as a neurochristopathy.
Martucciello G
Pediatric Surgery International, 1997
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.
Eng C et al.
Human Mutation, 1997
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
Attié T et al.
Human Molecular Genetics, 1995