Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease (Q28302375)

2

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Berta Luzón-Toro

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Raquel M Fernández

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Guillermo Antiñolo

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Lois M Mulligan

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Salud Borrego

Journal of Molecular Medicine

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language of work or name

English

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publication date

May 2011

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published in

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volume

89

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issue

5

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page(s)

471-80

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cites work

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A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

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The GDNF/RET signaling pathway and human diseases

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The GDNF family: signalling, biological functions and therapeutic value

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GFR alpha-4 and the tyrosine kinase Ret form a functional receptor complex for persephin

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Mammalian GFRalpha -4, a divergent member of the GFRalpha family of coreceptors for glial cell line-derived neurotrophic factor family ligands, is a receptor for the neurotrophic factor persephin

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Persephin signaling through GFRalpha1: the potential for the treatment of Parkinson's disease

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

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Renal and neuronal abnormalities in mice lacking GDNF

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GFRalpha1 is an essential receptor component for GDNF in the developing nervous system and kidney

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Gene targeting reveals a critical role for neurturin in the development and maintenance of enteric, sensory, and parasympathetic neurons

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Retarded growth and deficits in the enteric and parasympathetic nervous system in mice lacking GFR alpha2, a functional neurturin receptor.

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Neural precursor death is central to the pathogenesis of intestinal aganglionosis in Ret hypomorphic mice.

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Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

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De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

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Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

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RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

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Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

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Human glial cell line-derived neurotrophic factor receptor alpha 4 is the receptor for persephin and is predominantly expressed in normal and malignant thyroid medullary cells

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A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease

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New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease

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Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

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Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease

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Hirschsprung associated GDNF mutations do not prevent RET activation.

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Functional mapping of receptor specificity domains of glial cell line-derived neurotrophic factor (GDNF) family ligands and production of GFRalpha1 RET-specific agonists

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Human glial cell-line-derived neurotrophic factor: a structure-function analysis

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Persephin, a novel neurotrophic factor related to GDNF and neurturin

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PSPN/GFRalpha4 has a significantly weaker capacity than GDNF/GFRalpha1 to recruit RET to rafts, but promotes neuronal survival and neurite outgrowth.

21 January 2018

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Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

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A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes

21 January 2018

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Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype

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12 December 2020

Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system

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12 December 2020

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

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12 December 2020

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

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12 December 2020

Two conserved domains in the NGF propeptide are necessary and sufficient for the biosynthesis of correctly processed and biologically active NGF.

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12 December 2020

Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis.

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12 December 2020