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rdf:type |
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lifeskim:mentions |
umls-concept:C0015965,
umls-concept:C0026882,
umls-concept:C0205082,
umls-concept:C0207072,
umls-concept:C0243067,
umls-concept:C0522498,
umls-concept:C0542519,
umls-concept:C0543431,
umls-concept:C0694890,
umls-concept:C1171312,
umls-concept:C1333669
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pubmed:issue |
7
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pubmed:dateCreated |
2011-6-23
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pubmed:abstractText |
The RET/GDNF signalling pathway plays a crucial role during development of the kidneys and the enteric nervous system. In humans, RET activating mutations cause multiple endocrine neoplasia, whereas inactivating mutations are responsible for Hirschsprung disease. RET mutations have also been reported in fetuses with renal agenesis, based on analysis of a small series of samples.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:AmielJeanneJ,
pubmed-author:AntignacCorinneC,
pubmed-author:Attié-BitachTaniaT,
pubmed-author:BenabouMarionM,
pubmed-author:BlanchetPatriciaP,
pubmed-author:CarpentierWassilaW,
pubmed-author:DelezoideAnne-LiseAL,
pubmed-author:GaillardDominiqueD,
pubmed-author:GonzalesMarieM,
pubmed-author:HeidetLaurenceL,
pubmed-author:JeanpierreCécileC,
pubmed-author:LogetPhilippeP,
pubmed-author:MacéGuillaumeG,
pubmed-author:MartinovicJelenaJ,
pubmed-author:MorinièreVincentV,
pubmed-author:NitschkePatrickP,
pubmed-author:ParisotMélanieM,
pubmed-author:PawtowskyAudreyA,
pubmed-author:SalomonRémiR,
pubmed-author:Société Française de Foetopathologie,
pubmed-author:ToresFrédéricF
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pubmed:issnType |
Electronic
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
497-504
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pubmed:meshHeading |
pubmed-meshheading:21490379-Alleles,
pubmed-meshheading:21490379-Congenital Abnormalities,
pubmed-meshheading:21490379-DNA Copy Number Variations,
pubmed-meshheading:21490379-Fetus,
pubmed-meshheading:21490379-Gene Expression Regulation, Developmental,
pubmed-meshheading:21490379-Glial Cell Line-Derived Neurotrophic Factor,
pubmed-meshheading:21490379-Humans,
pubmed-meshheading:21490379-Kidney,
pubmed-meshheading:21490379-Kidney Diseases,
pubmed-meshheading:21490379-Mutation,
pubmed-meshheading:21490379-Open Reading Frames,
pubmed-meshheading:21490379-Polymorphism, Single Nucleotide,
pubmed-meshheading:21490379-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:21490379-Signal Transduction
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pubmed:year |
2011
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pubmed:articleTitle |
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
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pubmed:affiliation |
Inserm U983, Hôpital Necker, 75015 Paris, France. cecile.jeanpierre@inserm.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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