Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.Y1062F
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RET

NM_020975.6:p.Y1062F

Associated Papers

CCDC6-RET fusion protein regulates Ras/MAPK signaling through the fusion- GRB2-SHC1 signal niche.

Qiu T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38805286 (PubMed )
Supplement: pnas.2322359121.sapp.pdf

A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.

Sunardi M et al.

Cellular and Molecular Gastroenterology and Hepatology, 2023

Pulling back the curtain: The hidden functions of receptor tyrosine kinases in development.

Clark JF et al.

Current Topics in Developmental Biology, 2022

Intracellular RET signaling pathways activated by GDNF.

Kawai K et al.

Cell and Tissue Research, 2020

PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential.

Yadav L et al.

Iscience, 2020

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Wang H et al.

Frontiers in Genetics, 2019

Reciprocal Spatiotemporally Controlled Apoptosis Regulates Wolffian Duct Cloaca Fusion.

Hoshi M et al.

Journal of the American Society of Nephrology : Jasn, 2018

Differential recruitment of E3 ubiquitin ligase complexes regulates RET isoform internalization.

Hyndman BD et al.

Journal of Cell Science, 2017

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Widowati T et al.

European Journal of Human Genetics : Ejhg, 2016

Osr1 Interacts Synergistically with Wt1 to Regulate Kidney Organogenesis.

Xu J et al.

Plos One, 2016

To bud or not to bud: the RET perspective in CAKUT.

Davis TK et al.

Pediatric Nephrology (berlin, Germany), 2014

Oncogenic RET kinase domain mutations perturb the autophosphorylation trajectory by enhancing substrate presentation in trans.

Plaza-Menacho I et al.

Molecular Cell, 2014

The developmental genetics of Hirschsprung's disease.

Bergeron KF et al.

Clinical Genetics, 2013

Partial impairment of c-Ret at tyrosine 1062 accelerates age-related hearing loss in mice.

Ohgami N et al.

Neurobiology of Aging, 2012

Identification of a key motif that determines the differential surface levels of RET and TrkB tyrosine kinase receptors and controls depolarization enhanced RET surface insertion.

Li XZ et al.

The Journal of Biological Chemistry, 2012

Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.

Choi SK et al.

Plos Genetics, 2012

Intracellular signal transduction and modification of the tumor microenvironment induced by RET/PTCs in papillary thyroid carcinoma.

Menicali E et al.

Frontiers in Endocrinology, 2012

Genetic interactions and modifier genes in Hirschsprung's disease.

Wallace AS et al.

World Journal of Gastroenterology, 2011

Loss of Sprouty2 partially rescues renal hypoplasia and stomach hypoganglionosis but not intestinal aganglionosis in Ret Y1062F mutant mice.

Miyamoto R et al.

Developmental Biology, 2011

Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.

Dang R et al.

Plos One, 2011

Protein-tyrosine phosphatase SHP2 contributes to GDNF neurotrophic activity through direct binding to phospho-Tyr687 in the RET receptor tyrosine kinase.

Perrinjaquet M et al.

The Journal of Biological Chemistry, 2010

The Ca2+-calmodulin-dependent kinase II is activated in papillary thyroid carcinoma (PTC) and mediates cell proliferation stimulated by RET/PTC.

Rusciano MR et al.

Endocrine-related Cancer, 2010

Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice.

Jain S et al.

The Journal of Clinical Investigation, 2010

Kidney development in the absence of Gdnf and Spry1 requires Fgf10.

Michos O et al.

Plos Genetics, 2010

Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis.

Lu BC et al.

Nature Genetics, 2009

The many faces of RET dysfunction in kidney.

Jain S

Organogenesis, 2009

Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma.

Santarpia L et al.

Journal of Internal Medicine, 2009

Loss of Sprouty1 rescues renal agenesis caused by Ret mutation.

Rozen EJ et al.

Journal of the American Society of Nephrology : Jasn, 2009

A common RET variant is associated with reduced newborn kidney size and function.

Zhang Z et al.

Journal of the American Society of Nephrology : Jasn, 2008

Cell migration by a FRS2-adaptor dependent membrane relocation of ret receptors.

Lundgren TK et al.

Journal of Cellular Biochemistry, 2008

Differential membrane compartmentalization of Ret by PTB-adaptor engagement.

Lundgren TK et al.

The Febs Journal, 2008

GDNF-mediated signaling via RET tyrosine 1062 is essential for maintenance of spermatogonial stem cells.

Jijiwa M et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2008

Deciphering adaptor specificity in GFL-dependent RET-mediated proliferation and neurite outgrowth.

Gustin JA et al.

Journal of Neurochemistry, 2007

RET/papillary thyroid carcinoma oncogenic signaling through the Rap1 small GTPase.

De Falco V et al.

Cancer Research, 2007

Targeted mutation of serine 697 in the Ret tyrosine kinase causes migration defect of enteric neural crest cells.

Asai N et al.

Development (cambridge, England), 2006

Engineering the recruitment of phosphotyrosine binding domain-containing adaptor proteins reveals distinct roles for RET receptor-mediated cell survival.

Lundgren TK et al.

The Journal of Biological Chemistry, 2006

Conditional activation of RET/PTC3 and BRAFV600E in thyroid cells is associated with gene expression profiles that predict a preferential role of BRAF in extracellular matrix remodeling.

Mesa C et al.

Cancer Research, 2006

The receptor-type protein tyrosine phosphatase J antagonizes the biochemical and biological effects of RET-derived oncoproteins.

Iervolino A et al.

Cancer Research, 2006

RET ligand-induced internalization and its consequences for downstream signaling.

Richardson DS et al.

Oncogene, 2006

Interaction of SH2-Bbeta with RET is involved in signaling of GDNF-induced neurite outgrowth.

Zhang Y et al.

Journal of Cell Science, 2006

Critical and distinct roles for key RET tyrosine docking sites in renal development.

Jain S et al.

Genes & Development, 2006

RET and neuroendocrine tumors.

Murakumo Y et al.

Pituitary, 2006

Distinct turnover of alternatively spliced isoforms of the RET kinase receptor mediated by differential recruitment of the Cbl ubiquitin ligase.

Scott RP et al.

The Journal of Biological Chemistry, 2005

The RET/PTC-RAS-BRAF linear signaling cascade mediates the motile and mitogenic phenotype of thyroid cancer cells.

Melillo RM et al.

The Journal of Clinical Investigation, 2005

Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.

Wu TT et al.

Journal of Human Genetics, 2005

Mice expressing a dominant-negative Ret mutation phenocopy human Hirschsprung disease and delineate a direct role of Ret in spermatogenesis.

Jain S et al.

Development (cambridge, England), 2004

Dok-6, a Novel p62 Dok family member, promotes Ret-mediated neurite outgrowth.

Crowder RJ et al.

The Journal of Biological Chemistry, 2004

Regulation of p27Kip1 protein levels contributes to mitogenic effects of the RET/PTC kinase in thyroid carcinoma cells.

Vitagliano D et al.

Cancer Research, 2004

Autocrine stimulation by osteopontin plays a pivotal role in the expression of the mitogenic and invasive phenotype of RET/PTC-transformed thyroid cells.

Castellone MD et al.

Oncogene, 2004

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