Clonal dynamics of haematopoiesis across the human lifespan.
Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
High-depth African genomes inform human migration and health.
Nature
Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA
Publication Date: 2020-10
Variant appearance in text: GDF2: 997C>T; Arg333Trp
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
Blood
Shovlin, Claire L CL; Simeoni, Ilenia I; Downes, Kate K; Frazer, Zoe C ZC; Megy, Karyn K; Bernabeu-Herrero, Maria E ME; Shurr, Abigail A; Brimley, Jennifer J; Patel, Dilipkumar D; Kell, Loren L; Stephens, Jonathan J; Turbin, Isobel G IG; Aldred, Micheala A MA; Penkett, Christopher J CJ; Ouwehand, Willem H WH; Jovine, Luca L; Turro, Ernest E
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
American Journal Of Respiratory And Critical Care Medicine
Hodgson, Joshua J; Swietlik, Emilia M EM; Salmon, Richard M RM; Hadinnapola, Charaka C; Nikolic, Ivana I; Wharton, John J; Guo, Jingxu J; Liley, James J; Haimel, Matthias M; Bleda, Marta M; Southgate, Laura L; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; Lawrie, Allan A; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Olschewski, Andrea A; Olschewski, Horst H; Ouwehand, Willem H WH; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Suntharalingam, Jay J; Toshner, Mark R MR; Trembath, Richard C RC; Vonk Noordegraaf, Anton A; Wort, Stephen J SJ; Wilkins, Martin R MR; Yu, Paul B PB; Li, Wei W; Gräf, Stefan S; Upton, Paul D PD; Morrell, Nicholas W NW
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: GDF2: R333W; rs35129734
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
American Journal Of Human Genetics
Wooderchak-Donahue, Whitney L WL; McDonald, Jamie J; O'Fallon, Brendan B; Upton, Paul D PD; Li, Wei W; Roman, Beth L BL; Young, Sarah S; Plant, Parker P; Fülöp, Gyula T GT; Langa, Carmen C; Morrell, Nicholas W NW; Botella, Luisa M LM; Bernabeu, Carmelo C; Stevenson, David A DA; Runo, James R JR; Bayrak-Toydemir, Pinar P
Publication Date: 2013-09-05
Variant appearance in text: BMP9: 997C>T; rs35129734