Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET signaling complex in a cohort of living US patients with urinary tract malformations

Signaling by the glial cell line-derived neurotrophic factor (GDNF)-RET receptor tyrosine kinase and SPRY1, a RET repressor, is essential for early urinary tract development. Individual or a combination of GDNF, RET and SPRY1 mutant alleles in mice cause renal malformations reminiscent of congenital...

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Hauptverfasser: Chatterjee, Rajshekhar, Ramos, Enrique, Hoffman, Mary, VanWinkle, Jessica, Martin, Daniel R, Davis, Thomas K, Hoshi, Masato, Hmiel, Stanley P, Beck, Anne, Hruska, Keith, Coplen, Doug, Liapis, Helen, Mitra, Robi, Druley, Todd, Austin, Paul, Jain, Sanjay
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3551468/
https://ncbi.nlm.nih.gov/pubmed/22729463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-012-1181-3
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