Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

No abstract is available for this paper.

• Publication year

  1994

• Venue

  Nature

• Publication date

  1994-01-27

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/367377A0PMID 8114938
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

  1994cited by this paper
• A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

  1994cited by this paper
• Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

  1993cited by this paper
• Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI alpha of cyclic AMP-dependent protein kinase A

  1993cited by this paper
• Exon structure and flanking intronic sequences of the human RET proto-oncogene.

  1993cited by this paper
• Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection.

  1993cited by this paper
• Dimerization mediated through a leucine zipper activates the oncogenic potential of the met receptor tyrosine kinase

  1993cited by this paper
• Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

  1993cited by this paper
• A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

  1993cited by this paper
• cDNA cloning of mouse ret proto-oncogene and its sequence similarity to the cadherin superfamily.

  1993cited by this paper
• Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.

  1993cited by this paper
• A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

  1993cited by this paper
• Structural analysis of the human ret proto-oncogene using exon trapping.

  1993cited by this paper
• Deletion of the c-kit protooncogene in the human developmental defect piebald trait.

  1991cited by this paper
• Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

  1991cited by this paper
• Molecular bases of dominant negative and loss of function mutations at the murine c‐kit/white spotting locus: W37, Wv, W41 and W.

  1990cited by this paper
• Characterization of ret proto-oncogene mRNAs encoding two isoforms of the protein product in a human neuroblastoma cell line.

  1990cited by this paper
• W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor.

  1990cited by this paper
• Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

  1989cited by this paper
• Activation of the ret-II oncogene without a sequence encoding a transmembrane domain and transforming activity of two ret-II oncogene products differing in carboxy-termini due to alternative splicing.

  1989cited by this paper
• The protein kinase family: conserved features and deduced phylogeny of the catalytic domains.

  1988cited by this paper
• A new oncogene in human thyroid papillary carcinomas and their lymph-nodal metastases

  1987cited by this paper
• Activation of a novel human transforming gene, ret, by DNA rearrangement.

  1985cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper

• RET signalling in the pituitary: a double-edged sword for differentiation, apoptosis and therapeutic strategies in acromegaly.

  2025cites this paper
• Rare and common genetic variants underlying the risk of Hirschsprung's disease.

  2025cites this paper
• Scientific evolution from the definition of Hirschsprung disease to the present: a bibliometric analysis (1980–2023)

  2025cites this paper
• EMB is essential for enteric nervous system development mediated by PI3K signaling

  2025cites this paper
• RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update

  2025cites this paper
• Single-cell RNA sequencing in Hirschsprung’s disease tissues reveals lack of neuronal differentiation in the aganglionic colon segment

  2025cites this paper
• DNA methylation in necrotizing enterocolitis

  2024cites this paper
• Oncogenic alterations in advanced NSCLC: a molecular super-highway

  2024cites this paper
• Targeted therapeutic options in early and metastatic NSCLC-overview

  2024cites this paper
• Unraveling the Promise of RET Inhibitors in Precision Cancer Therapy by Targeting RET Mutations.

  2024cites this paper
• Low nephron endowment increases susceptibility to renal stress and chronic kidney disease

  2023cites this paper
• Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease

  2023cites this paper
• Sulfonamides modulating tyrosine kinases- An expedient approach towards novel anticancer agents

  2023cites this paper
• Mice Are Not Small Furry People! A New Hirschsprung Disease Model Lets Us Pretend This Is Not True

  2023cites this paper
• A New Transgenic Tool to Study the Ret Signaling Pathway in the Enteric Nervous System

  2022cites this paper
• Hirschsprung-Associated Enterocolitis: Transformative Research from Bench to Bedside.

  2022cites this paper
• RET receptor signaling: Function in development, metabolic disease, and cancer

  2022cites this paper
• Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation.

  2022cites this paper
• A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism

  2022cites this paper
• The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease

  2022cites this paper
• Resistance to RET targeted therapy in Thyroid Cancer: Molecular basis and overcoming strategies.

  2022cites this paper
• Genetic background-dependent abnormalities of the enteric nervous system and intestinal function in Kif26a-deficient mice

  2021cites this paper
• Increased RET Activity Coupled with a Reduction in the RET Gene Dosage Causes Intestinal Aganglionosis in Mice

  2021cites this paper
• Oncogenic driver mutations in non-small cell lung cancer: Past, present and future

  2021cites this paper
• Gut innervation and enteric nervous system development: a spatial, temporal and molecular tour de force

  2021cites this paper
• Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development

  2021cites this paper
• Microbiome-encoded bile acid metabolism modulates colonic transit times

  2021cites this paper
• Genetic Background Influences Severity of Colonic Aganglionosis and Response to GDNF Enemas in the Holstein Mouse Model of Hirschsprung Disease

  2021cites this paper
• The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications

  2021cites this paper
• Aberrant enteric neuromuscular system and dysbiosis in amyotrophic lateral sclerosis

  2021cites this paper
• Anorektale Fehlbildungen und Morbus Hirschsprung

  2021cites this paper
• Hirschsprung disease and more: dysregulation of ERBB2 and ERBB3.

  2021cites this paper
• Gastrointestinal Tract and Hepatobiliary Duct System

  2020cites this paper
• ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

  2020cites this paper
• Roles of the RET Proto-oncogene in Cancer and Development

  2020influential citation
• Revisiting the Role of Neurotrophic Factors in Inflammation

  2020cites this paper
• miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children

  2020cites this paper
• Size matters: large copy number losses reveal novel Hirschsprung disease genes

  2020cites this paper
• The role of GDNF and its receptor GFRa1 in neuronal development and function

  2020cites this paper
• GDNF and GUCY2C mutation associated with Hirschsprung's disease in a trio pedigree: a case report

  2020cites this paper
• Validation in zebrafish using CRISPR/Cas9 targeting confirmed the contribution of UFD1L, TBX2,

  2020cites this paper
• Gastrointestinal Tract

  2020cites this paper
• What is new about the genetic background of Hirschsprung disease?

  2020cites this paper
• Hirschsprung’s Disease: A Historical Perspective – 1691–2018

  2019cites this paper
• Development of the Enteric Nervous System

  2019cites this paper
• HIRSCHSPRUNG’S DISEASE: A LITERATURE REVIEW

  2019cites this paper
• Hirschsprung’s Disease

  2019cites this paper
• Adult congenital megacolon with acute fecal obstruction and diabetic nephropathy: A case report.

  2019cites this paper
• “Too much guts and not enough brains”: (epi)genetic mechanisms and future therapies of Hirschsprung disease — a review

  2019cites this paper
• Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population

  2019cites this paper
• Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

  2019cites this paper
• Urinary tract anomalies and urinary tract dysfunction in children with Hirschsprung disease-Is follow-up indicated?

  2019cites this paper
• Animal Models of Aganglionosis

  2019cites this paper
• Development of mesenteric tissues.

  2019cites this paper
• Functional Anatomy of the Enteric Nervous System

  2019cites this paper
• RET fusions in solid tumors.

  2019cites this paper
• Animal Models of Hirschsprung's Disease: State of the Art in Translating Experimental Research to the Bedside

  2019cites this paper
• Are We Underdiagnosing Hirschsprung Disease?

  2019cites this paper
• Hirschsprung's disease. Physical outcome and innovations

  2019cites this paper
• BASIC AND TRANSLATIONAL—ALIMENTARY TRACT Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease

  2018cites this paper
• Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

  2018cites this paper
• Research in Pediatric Surgery

  2018cites this paper
• The Drosophila Ret gene functions in the stomatogastric nervous system with the Maverick TGFβ ligand and the Gfrl co-receptor

  2018cites this paper
• 88 – Development of the Enteric Nervous System

  2017cites this paper
• Hirschsprung’s Disease in Newborns

  2017cites this paper
• RET-mediated modulation of tumor microenvironment and immune response in multiple endocrine neoplasia type 2 (MEN2).

  2017cites this paper
• Germline mutation of RET proto-oncogene’s exons 17 and 18 in Iranian medullary thyroid carcinoma patients

  2017cites this paper
• Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play

  2017cites this paper
• Advances in the management of MEN2: from improved surgical and medical treatment to novel kinase inhibitors.

  2017cites this paper
• Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

  2017cites this paper
• Theories of Toileting

  2017cites this paper
• Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes.

  2016cites this paper
• Genetics of enteric neuropathies.

  2016cites this paper
• Molecular Mechanisms of Disease: The RET Proto-oncogene

  2016cites this paper
• Association Analysis of SLC6A20 Polymorphisms With Hirschsprung Disease

  2016cites this paper
• Established and emerging concepts in Hirschsprung’s-associated enterocolitis

  2016cites this paper
• ENS Development Research Since 1983: Great Strides but Many Remaining Challenges.

  2016cites this paper
• Chapter 21 – Genetic Aspects of Human Congenital Anomalies of the Kidney and Urinary Tract

  2016cites this paper
• The Ret receptor mediates sensory neuron dendrite growth through TGFβ

  2016cites this paper
• Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players.

  2016cites this paper
• Multiple Endocrine Neoplasia Syndromes

  2016cites this paper
• Hirschsprung's disease: A bridge for science and surgery.

  2016cites this paper
• A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.

  2015cites this paper
• The Multiple Endocrine Neoplasia Syndromes

  2015cites this paper
• Axon guidance proteins in neurological disorders.

  2015cites this paper
• Multiple Endocrine Neoplasia: Genetics and Clinical Management.

  2015cites this paper
• RET RECEPTOR ACTIVATION TARGETS EXPRESSION OF THE PLEIOTROPIC CYTOKINE INTERLEUKIN-11

  2015cites this paper
• Knockout mouse models of Hirschsprung’s disease

  2015cites this paper
• The Role of the Atypical Cadherin Fat4 during Early Mouse Kidney Induction and Mesenchymal to Epithelial Transition

  2015cites this paper
• Receptor tyrosine kinase signaling: regulating neural crest development one phosphate at a time.

  2015cites this paper
• RET gene is a major risk factor for Hirschsprung’s disease: a meta-analysis

  2015cites this paper
• RET Dependent Transcriptional Changes of Cell Signaling Proteins in Neuroblastoma Cells

  2015cites this paper
• Identification of rare germline copy number variations over-represented in five human cancer types

  2015cites this paper
• Regulators of gut motility revealed by a gnotobiotic model of diet-microbiome interactions related to travel.

  2015cites this paper
• Multiple Endocrine Neoplasia: Genetics & Clinical Management Multiple Endocrine Neoplasia type 1 (MEN-1)

  2015cites this paper
• The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma

  2014cites this paper
• Clinical, genetic and functional characterization of intellectual disability disorders

  2014cites this paper
• Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

  2014cites this paper
• 2013 William Allan Award: My multifactorial journey.

  2014cites this paper
• ASHG AWARDS AND ADDRESSES

  2014cites this paper