Publications:

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs140696

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: MBD4: G465G; rs140696

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Germline MBD4 Mutations and Predisposition to Uveal Melanoma.

Journal Of The National Cancer Institute

Derrien, Anne-Céline AC; Rodrigues, Manuel M; Eeckhoutte, Alexandre A; Dayot, Stéphane S; Houy, Alexandre A; Mobuchon, Lenha L; Gardrat, Sophie S; Lequin, Delphine D; Ballet, Stelly S; Pierron, Gaëlle G; Alsafadi, Samar S; Mariani, Odette O; El-Marjou, Ahmed A; Matet, Alexandre A; Colas, Chrystelle C; Cassoux, Nathalie N; Stern, Marc-Henri MH

Publication Date: 2021-01-04

Variant appearance in text: rs140696

PubMed Link: 32239153

Variant Present in the following documents:

• djaa047_supplementary_data.pdf

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs140696

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

---

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs140696

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MBD4: G465G; rs140696

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International Journal Of Molecular Epidemiology And Genetics

Doherty, Jennifer A JA; Sakoda, Lori C LC; Loomis, Melissa M MM; Barnett, Matt J MJ; Julianto, Liberto L; Thornquist, Mark D MD; Neuhouser, Marian L ML; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C

Publication Date: 2013

Variant appearance in text: rs140696

PubMed Link: 23565320

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.

Neurogenetics

Cukier, Holly N HN; Rabionet, Raquel R; Konidari, Ioanna I; Rayner-Evans, Melissa Y MY; Baltos, Mary L ML; Wright, Harry H HH; Abramson, Ruth K RK; Martin, Eden R ER; Cuccaro, Michael L ML; Pericak-Vance, Margaret A MA; Gilbert, John R JR

Publication Date: 2010-07

Variant appearance in text: rs140696

PubMed Link: 19921286

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population.

The American Journal Of Clinical Nutrition

Chanson, Aurelie A; Parnell, Laurence D LD; Ciappio, Eric D ED; Liu, Zhenhua Z; Crott, Jimmy W JW; Tucker, Katherine L KL; Mason, Joel B JB

Publication Date: 2009-06

Variant appearance in text: rs140696

PubMed Link: 19403629

Variant Present in the following documents:

• Main text

View BVdb publication page

---