Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: SHMT1: 242+7G>A; rs2273026
Associations between genetic variants in folate and drug metabolizing pathways and relapse risk in pediatric acute lymphoid leukemia on CCG-1952.
Leukemia Research Reports
Vujkovic, Marijana M; Kershenbaum, Aaron A; Wray, Lisa L; McWilliams, Thomas T; Cannon, Shannon S; Devidas, Meenakshi M; Stork, Linda L; Aplenc, Richard R
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.
Molecular Nutrition & Food Research
Kelemen, Linda E LE; Terry, Kathryn L KL; Goodman, Marc T MT; Webb, Penelope M PM; Bandera, Elisa V EV; McGuire, Valerie V; Rossing, Mary Anne MA; Wang, Qinggang Q; Dicks, Ed E; Tyrer, Jonathan P JP; Song, Honglin H; Kupryjanczyk, Jolanta J; Dansonka-Mieszkowska, Agnieszka A; Plisiecka-Halasa, Joanna J; Timorek, Agnieszka A; Menon, Usha U; Gentry-Maharaj, Aleksandra A; Gayther, Simon A SA; Ramus, Susan J SJ; Narod, Steven A SA; Risch, Harvey A HA; McLaughlin, John R JR; Siddiqui, Nadeem N; Glasspool, Rosalind R; Paul, James J; Carty, Karen K; Gronwald, Jacek J; Lubiński, Jan J; Jakubowska, Anna A; Cybulski, Cezary C; Kiemeney, Lambertus A LA; Massuger, Leon F A G LF; van Altena, Anne M AM; Aben, Katja K H KK; Olson, Sara H SH; Orlow, Irene I; Cramer, Daniel W DW; Levine, Douglas A DA; Bisogna, Maria M; Giles, Graham G GG; Southey, Melissa C MC; Bruinsma, Fiona F; Kjaer, Susanne K SK; Høgdall, Estrid E; Jensen, Allan A; Høgdall, Claus K CK; Lundvall, Lene L; Engelholm, Svend-Aage SA; Heitz, Florian F; du Bois, Andreas A; Harter, Philipp P; Schwaab, Ira I; Butzow, Ralf R; Nevanlinna, Heli H; Pelttari, Liisa M LM; Leminen, Arto A; Thompson, Pamela J PJ; Lurie, Galina G; Wilkens, Lynne R LR; Lambrechts, Diether D; Van Nieuwenhuysen, Els E; Lambrechts, Sandrina S; Vergote, Ignace I; Beesley, Jonathan J; , ; Fasching, Peter A PA; Beckmann, Matthias W MW; Hein, Alexander A; Ekici, Arif B AB; Doherty, Jennifer A JA; Wu, Anna H AH; Pearce, Celeste L CL; Pike, Malcolm C MC; Stram, Daniel D; Chang-Claude, Jenny J; Rudolph, Anja A; Dörk, Thilo T; Dürst, Matthias M; Hillemanns, Peter P; Runnebaum, Ingo B IB; Bogdanova, Natalia N; Antonenkova, Natalia N; Odunsi, Kunle K; Edwards, Robert P RP; Kelley, Joseph L JL; Modugno, Francesmary F; Ness, Roberta B RB; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; Orsulic, Sandra S; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Wu, Xifeng X; Lu, Karen K; Liang, Dong D; Hildebrandt, Michelle A T MA; Weber, Rachel Palmieri RP; Iversen, Edwin S ES; Tworoger, Shelley S SS; Poole, Elizabeth M EM; Salvesen, Helga B HB; Krakstad, Camilla C; Bjorge, Line L; Tangen, Ingvild L IL; Pejovic, Tanja T; Bean, Yukie Y; Kellar, Melissa M; Wentzensen, Nicolas N; Brinton, Louise A LA; Lissowska, Jolanta J; Garcia-Closas, Montserrat M; Campbell, Ian G IG; Eccles, Diana D; Whittemore, Alice S AS; Sieh, Weiva W; Rothstein, Joseph H JH; Anton-Culver, Hoda H; Ziogas, Argyrios A; Phelan, Catherine M CM; Moysich, Kirsten B KB; Goode, Ellen L EL; Schildkraut, Joellen M JM; Berchuck, Andrew A; Pharoah, Paul D P PD; Sellers, Thomas A TA; Brooks-Wilson, Angela A; Cook, Linda S LS; Le, Nhu D ND
A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.
Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J
Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.
Cancer Causes & Control : Ccc
Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW
Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
Cancer Research
Kelemen, Linda E LE; Sellers, Thomas A TA; Schildkraut, Joellen M JM; Cunningham, Julie M JM; Vierkant, Robert A RA; Pankratz, V Shane VS; Fredericksen, Zachary S ZS; Gadre, Madhura K MK; Rider, David N DN; Liebow, Mark M; Goode, Ellen L EL