Publications:

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: M1064T; rs149513065

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: RET: 3191T>C; M1064T

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 14

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs149513065

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HSCR1: M1064T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

European Journal Of Human Genetics : Ejhg

Jannot, Anne-Sophie AS; Amiel, Jeanne J; Pelet, Anna A; Lantieri, Francesca F; Fernandez, Raquel M RM; Verheij, Joke B G M JB; Garcia-Barcelo, Merce M; Arnold, Stacey S; Ceccherini, Isabella I; Borrego, Salud S; Hofstra, Robert M W RM; Tam, Paul K H PK; Munnich, Arnold A; Chakravarti, Aravinda A; Clerget-Darpoux, Françoise F; Lyonnet, Stanislas S

Publication Date: 2012-09

Variant appearance in text: RET: Met1064Thr

PubMed Link: 22395866

Variant Present in the following documents:

• Main text

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RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Plos One

So, Man-Ting MT; Leon, Thomas Yuk-Yu TY; Cheng, Guo G; Tang, Clara Sze-Man CS; Miao, Xiao-Ping XP; Cornes, Belinda K BK; Diem, Ngoc Ngo NN; Cui, Long L; Ngan, Elly Sau-Wai ES; Lui, Vincent Chai-Hang VC; Wu, Xuan-Zhao XZ; Wang, Bin B; Wang, Hualong H; Yuan, Zheng-Wei ZW; Huang, Liu-Ming LM; Li, Long L; Xia, Huimin H; Zhu, Deli D; Liu, Juncheng J; Nguyen, Thanh Liem TL; Chan, Ivy Hau-Yee IH; Chung, Patrick Ho-Yu PH; Liu, Xue-Lai XL; Zhang, Ruizhong R; Wong, Kenneth Kak-Yuen KK; Sham, Pak-Chung PC; Cherny, Stacey S SS; Tam, Paul Kwong-Hang PK; Garcia-Barcelo, Maria-Mercè MM

Publication Date: 2011

Variant appearance in text: RET: M1064T

PubMed Link: 22174939

Variant Present in the following documents:

• Main text
• pone.0028986.pdf

View BVdb publication page

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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: RET51: M1064T

PubMed Link: 20160347

Variant Present in the following documents:

• Main text

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A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.

American Journal Of Human Genetics

Griseri, Paola P; Pesce, Barbara B; Patrone, Giovanna G; Osinga, Jan J; Puppo, Francesca F; Sancandi, Monica M; Hofstra, Robert R; Romeo, Giovanni G; Ravazzolo, Roberto R; Devoto, Marcella M; Ceccherini, Isabella I

Publication Date: 2002-10

Variant appearance in text: RET: M1064T

PubMed Link: 12214285

Variant Present in the following documents:

• Main text

View BVdb publication page

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