Publications:

---

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.

Jci Insight

Klaver, Elsenoor J EJ; Dukes-Rimsky, Lynn L; Kumar, Brijesh B; Xia, Zhi-Jie ZJ; Dang, Tammie T; Lehrman, Mark A MA; Angel, Peggi P; Drake, Richard R RR; Freeze, Hudson H HH; Steet, Richard R; Flanagan-Steet, Heather H

Publication Date: 2021-11-16

Variant appearance in text: PC: 152G>A

PubMed Link: 34784297

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: PC: R51H

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 11

View BVdb publication page

---

Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances

Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF

Publication Date: 2020

Variant appearance in text: PC: R51H

PubMed Link: 32904945

Variant Present in the following documents:

• vdaa088_suppl_supplementary_tables.xlsx, sheet 3

View BVdb publication page

---

Mechanisms of resistance to a PI3K inhibitor in gastrointestinal stromal tumors: an omic approach to identify novel druggable targets.

Cancer Management And Research

Ravegnini, Gloria G; Sammarini, Giulia G; Moran, Sebastian S; Calice, Giovanni G; Indio, Valentina V; Urbini, Milena M; Astolfi, Annalisa A; Zanotti, Federica F; Pantaleo, Maria A MA; Hrelia, Patrizia P; Angelini, Sabrina S

Publication Date: 2019

Variant appearance in text: PC: R51H

PubMed Link: 31308757

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: PC: 152G>A; R51H

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-5.xlsx, sheet 1

View BVdb publication page

---

Most mutant OccR proteins that are defective in positive control hold operator DNA in a locked high-angle bend.

Journal Of Bacteriology

Tsai, Ching-Sung CS; Chen, Chia-Sui CS; Winans, Stephen C SC

Publication Date: 2011-10

Variant appearance in text: PC: R51H

PubMed Link: 21804007

Variant Present in the following documents:

• Main text

View BVdb publication page

---