Publications:

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Special Issue "GPCR: Roles in Cell Development and Disease".

International Journal Of Molecular Sciences

Lattanzi, Roberta R; Miele, Rossella R

Publication Date: 2023-04-27

Variant appearance in text: MRAP2: R125H

PubMed Link: 37175650

Variant Present in the following documents:

• Main text
• ijms-24-07943.pdf

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Arginine 125 Is an Essential Residue for the Function of MRAP2.

International Journal Of Molecular Sciences

Fullone, Maria Rosaria MR; Maftei, Daniela D; Vincenzi, Martina M; Lattanzi, Roberta R; Miele, Rossella R

Publication Date: 2022-08-30

Variant appearance in text: MRAP2: R125H

PubMed Link: 36077245

Variant Present in the following documents:

• Main text
• ijms-23-09853.pdf

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Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.

Gene

Berruien, Nasrin N A NNA; Smith, Caroline L CL

Publication Date: 2020-10-05

Variant appearance in text: MRAP2: Arg125His

PubMed Link: 32679290

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Nature Medicine

Baron, Morgane M; Maillet, Julie J; Huyvaert, Marlène M; Dechaume, Aurélie A; Boutry, Raphaël R; Loiselle, Hélène H; Durand, Emmanuelle E; Toussaint, Bénédicte B; Vaillant, Emmanuel E; Philippe, Julien J; Thomas, Jérémy J; Ghulam, Amjad A; Franc, Sylvia S; Charpentier, Guillaume G; Borys, Jean-Michel JM; Lévy-Marchal, Claire C; Tauber, Maïthé M; Scharfmann, Raphaël R; Weill, Jacques J; Aubert, Cécile C; Kerr-Conte, Julie J; Pattou, François F; Roussel, Ronan R; Balkau, Beverley B; Marre, Michel M; Boissel, Mathilde M; Derhourhi, Mehdi M; Gaget, Stefan S; Canouil, Mickaël M; Froguel, Philippe P; Bonnefond, Amélie A

Publication Date: 2019-11

Variant appearance in text: MRAP2: 374G>A; R125H

PubMed Link: 31700171

Variant Present in the following documents:

• Main text
• EMS84473.pdf

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: MRAP2: R125H; rs115655382

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: MRAP2: R125H; rs115655382

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: MRAP2: 374G>A; R125H; rs115655382

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1
• oncotarget-08-99237-s003.xlsx, sheet 1

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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: MRAP2: 374G>A; R125H

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

View BVdb publication page

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