RET c.3044A>T ;(p.Y1015F)

Variant ID: 10-43622027-A-T

NM_020975.4(RET):c.3044A>T;(p.Y1015F)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


A single RET mutation in Hirschsprung disease induces intestinal aganglionosis via a dominant-negative mechanism.

Cellular And Molecular Gastroenterology And Hepatology
Sunardi, Mukhamad M; Ito, Keisuke K; Sato, Yuya Y; Uesaka, Toshihiro T; Iwasaki, Mitsuhiro M; Enomoto, Hideki H
Publication Date: 2022-12-12

Variant appearance in text: RET: Y1015F
PubMed Link: 36521661
Variant Present in the following documents:
  • Main text
  • main.pdf
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Reciprocal Spatiotemporally Controlled Apoptosis Regulates Wolffian Duct Cloaca Fusion.

Journal Of The American Society Of Nephrology : Jasn
Hoshi, Masato M; Reginensi, Antoine A; Joens, Matthew S MS; Fitzpatrick, James A J JAJ; McNeill, Helen H; Jain, Sanjay S
Publication Date: 2018-03

Variant appearance in text: RET: Y1015F
PubMed Link: 29326158
Variant Present in the following documents:
  • Main text
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Yap and Taz are required for Ret-dependent urinary tract morphogenesis.

Development (Cambridge, England)
Reginensi, Antoine A; Hoshi, Masato M; Boualia, Sami Kamel SK; Bouchard, Maxime M; Jain, Sanjay S; McNeill, Helen H
Publication Date: 2015-08-01

Variant appearance in text: RET: Y1015F
PubMed Link: 26243870
Variant Present in the following documents:
  • Main text
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Oncogenic RET kinase domain mutations perturb the autophosphorylation trajectory by enhancing substrate presentation in trans.

Molecular Cell
Plaza-Menacho, Iván I; Barnouin, Karin K; Goodman, Kerry K; Martínez-Torres, Rubén J RJ; Borg, Annabel A; Murray-Rust, Judith J; Mouilleron, Stephane S; Knowles, Phillip P; McDonald, Neil Q NQ
Publication Date: 2014-03-06

Variant appearance in text: RET: Y1015F
PubMed Link: 24560924
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
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To bud or not to bud: the RET perspective in CAKUT.

Pediatric Nephrology (Berlin, Germany)
Davis, T Keefe TK; Hoshi, Masato M; Jain, Sanjay S
Publication Date: 2014-04

Variant appearance in text: RET: Y1015F
PubMed Link: 24022366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enteric nervous system development: migration, differentiation, and disease.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
Lake, Jonathan I JI; Heuckeroth, Robert O RO
Publication Date: 2013-07-01

Variant appearance in text: RET: Y1015F
PubMed Link: 23639815
Variant Present in the following documents:
  • Main text
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Novel mechanisms of early upper and lower urinary tract patterning regulated by RetY1015 docking tyrosine in mice.

Development (Cambridge, England)
Hoshi, Masato M; Batourina, Ekatherina E; Mendelsohn, Cathy C; Jain, Sanjay S
Publication Date: 2012-07

Variant appearance in text: RET: Y1015F
PubMed Link: 22627285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mammalian kidney development: principles, progress, and projections.

Cold Spring Harbor Perspectives In Biology
Little, Melissa H MH; McMahon, Andrew P AP
Publication Date: 2012-05-01

Variant appearance in text: RET: Y1015F
PubMed Link: 22550230
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rap1GAP interacts with RET and suppresses GDNF-induced neurite outgrowth.

Cell Research
Jiao, Li L; Zhang, Yong Y; Hu, Chun C; Wang, Yong-Gang YG; Huang, Aijun A; He, Cheng C
Publication Date: 2011-02

Variant appearance in text: RET: Y1015F
PubMed Link: 20877310
Variant Present in the following documents:
  • Main text
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The many faces of RET dysfunction in kidney.

Organogenesis
Jain, Sanjay S
Publication Date: 2009-10

Variant appearance in text: RET: Y1015F
PubMed Link: 20539737
Variant Present in the following documents:
  • Main text
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Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice.

The Journal Of Clinical Investigation
Jain, Sanjay S; Knoten, Amanda A; Hoshi, Masato M; Wang, Hongtao H; Vohra, Bhupinder B; Heuckeroth, Robert O RO; Milbrandt, Jeffrey J
Publication Date: 2010-03

Variant appearance in text: RET: Y1015F
PubMed Link: 20160347
Variant Present in the following documents:
  • Main text
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Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis.

Nature Genetics
Lu, Benson C BC; Cebrian, Cristina C; Chi, Xuan X; Kuure, Satu S; Kuo, Richard R; Bates, Carlton M CM; Arber, Silvia S; Hassell, John J; MacNeil, Lesley L; Hoshi, Masato M; Jain, Sanjay S; Asai, Naoya N; Takahashi, Masahide M; Schmidt-Ott, Kai M KM; Barasch, Jonathan J; D'Agati, Vivette V; Costantini, Frank F
Publication Date: 2009-12

Variant appearance in text: RET: Y1015F
PubMed Link: 19898483
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of Ret knockin mice reveals a critical role for IKKs, but not PI 3-K, in neurotrophic factor-induced survival of sympathetic neurons.

Cell Death And Differentiation
Encinas, M M; Rozen, E J EJ; Dolcet, X X; Jain, S S; Comella, J X JX; Milbrandt, J J; Johnson, E M EM
Publication Date: 2008-09

Variant appearance in text: RET51: Y1015F
PubMed Link: 18497757
Variant Present in the following documents:
  • Main text
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Critical and distinct roles for key RET tyrosine docking sites in renal development.

Genes & Development
Jain, Sanjay S; Encinas, Mario M; Johnson, Eugene M EM; Milbrandt, Jeffrey J
Publication Date: 2006-02-01

Variant appearance in text: RET: Y1015F
PubMed Link: 16452504
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

The Journal Of Clinical Investigation
Melillo, Rosa Marina RM; Castellone, Maria Domenica MD; Guarino, Valentina V; De Falco, Valentina V; Cirafici, Anna Maria AM; Salvatore, Giuliana G; Caiazzo, Fiorina F; Basolo, Fulvio F; Giannini, Riccardo R; Kruhoffer, Mogens M; Orntoft, Torben T; Fusco, Alfredo A; Santoro, Massimo M
Publication Date: 2005-04

Variant appearance in text: RET: Y1015F
PubMed Link: 15761501
Variant Present in the following documents:
  • Main text
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Docking protein FRS2 links the protein tyrosine kinase RET and its oncogenic forms with the mitogen-activated protein kinase signaling cascade.

Molecular And Cellular Biology
Melillo, R M RM; Santoro, M M; Ong, S H SH; Billaud, M M; Fusco, A A; Hadari, Y R YR; Schlessinger, J J; Lax, I I
Publication Date: 2001-07

Variant appearance in text: RET: Y1015F
PubMed Link: 11390647
Variant Present in the following documents:
  • Main text
View BVdb publication page