A genome-wide association study identifies distinct variants associated with pulmonary function among European and African ancestries from the UK Biobank.
Communications Biology
Sinkala, Musalula M; Elsheikh, Samar S M SSM; Mbiyavanga, Mamana M; Cullinan, Joshua J; Mulder, Nicola J NJ
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05
Variant appearance in text: PTCH1: 2250+25T>C; rs16909898
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
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Association between PTCH1 gene polymorphisms and chronic obstructive pulmonary disease susceptibility in a Chinese Han population: a case-control study.
Chinese Medical Journal
Kang, Xi X; Guo, Ting T; Liu, Lyu L; Ding, Shui-Zi SZ; Lei, Cheng C; Luo, Hong H
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Genetic Association and Risk Scores in a Chronic Obstructive Pulmonary Disease Meta-analysis of 16,707 Subjects.
American Journal Of Respiratory Cell And Molecular Biology
Busch, Robert R; Hobbs, Brian D BD; Zhou, Jin J; Castaldi, Peter J PJ; McGeachie, Michael J MJ; Hardin, Megan E ME; Hawrylkiewicz, Iwona I; Sliwinski, Pawel P; Yim, Jae-Joon JJ; Kim, Woo Jin WJ; Kim, Deog K DK; Agusti, Alvar A; Make, Barry J BJ; Crapo, James D JD; Calverley, Peter M PM; Donner, Claudio F CF; Lomas, David A DA; Wouters, Emiel F EF; Vestbo, Jørgen J; Tal-Singer, Ruth R; Bakke, Per P; Gulsvik, Amund A; Litonjua, Augusto A AA; Sparrow, David D; Paré, Peter D PD; Levy, Robert D RD; Rennard, Stephen I SI; Beaty, Terri H TH; Hokanson, John J; Silverman, Edwin K EK; Cho, Michael H MH; , ; , ; , ; ,
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.
Nature Genetics
Wain, Louise V LV; Shrine, Nick N; Artigas, María Soler MS; Erzurumluoglu, A Mesut AM; Noyvert, Boris B; Bossini-Castillo, Lara L; Obeidat, Ma'en M; Henry, Amanda P AP; Portelli, Michael A MA; Hall, Robert J RJ; Billington, Charlotte K CK; Rimington, Tracy L TL; Fenech, Anthony G AG; John, Catherine C; Blake, Tineka T; Jackson, Victoria E VE; Allen, Richard J RJ; Prins, Bram P BP; , ; Campbell, Archie A; Porteous, David J DJ; Jarvelin, Marjo-Riitta MR; Wielscher, Matthias M; James, Alan L AL; Hui, Jennie J; Wareham, Nicholas J NJ; Zhao, Jing Hua JH; Wilson, James F JF; Joshi, Peter K PK; Stubbe, Beate B; Rawal, Rajesh R; Schulz, Holger H; Imboden, Medea M; Probst-Hensch, Nicole M NM; Karrasch, Stefan S; Gieger, Christian C; Deary, Ian J IJ; Harris, Sarah E SE; Marten, Jonathan J; Rudan, Igor I; Enroth, Stefan S; Gyllensten, Ulf U; Kerr, Shona M SM; Polasek, Ozren O; Kähönen, Mika M; Surakka, Ida I; Vitart, Veronique V; Hayward, Caroline C; Lehtimäki, Terho T; Raitakari, Olli T OT; Evans, David M DM; Henderson, A John AJ; Pennell, Craig E CE; Wang, Carol A CA; Sly, Peter D PD; Wan, Emily S ES; Busch, Robert R; Hobbs, Brian D BD; Litonjua, Augusto A AA; Sparrow, David W DW; Gulsvik, Amund A; Bakke, Per S PS; Crapo, James D JD; Beaty, Terri H TH; Hansel, Nadia N NN; Mathias, Rasika A RA; Ruczinski, Ingo I; Barnes, Kathleen C KC; Bossé, Yohan Y; Joubert, Philippe P; van den Berge, Maarten M; Brandsma, Corry-Anke CA; Paré, Peter D PD; Sin, Don D DD; Nickle, David C DC; Hao, Ke K; Gottesman, Omri O; Dewey, Frederick E FE; Bruse, Shannon E SE; Carey, David J DJ; Kirchner, H Lester HL; , ; Jonsson, Stefan S; Thorleifsson, Gudmar G; Jonsdottir, Ingileif I; Gislason, Thorarinn T; Stefansson, Kari K; Schurmann, Claudia C; Nadkarni, Girish G; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Walters, Robin G RG; Chen, Zhengming Z; Millwood, Iona Y IY; Vaucher, Julien J; Kurmi, Om P OP; Li, Liming L; Hansell, Anna L AL; Brightling, Chris C; Zeggini, Eleftheria E; Cho, Michael H MH; Silverman, Edwin K EK; Sayers, Ian I; Trynka, Gosia G; Morris, Andrew P AP; Strachan, David P DP; Hall, Ian P IP; Tobin, Martin D MD
Molecular mechanisms underlying variations in lung function: a systems genetics analysis.
The Lancet. Respiratory Medicine
Obeidat, Ma'en M; Hao, Ke K; Bossé, Yohan Y; Nickle, David C DC; Nie, Yunlong Y; Postma, Dirkje S DS; Laviolette, Michel M; Sandford, Andrew J AJ; Daley, Denise D DD; Hogg, James C JC; Elliott, W Mark WM; Fishbane, Nick N; Timens, Wim W; Hysi, Pirro G PG; Kaprio, Jaakko J; Wilson, James F JF; Hui, Jennie J; Rawal, Rajesh R; Schulz, Holger H; Stubbe, Beate B; Hayward, Caroline C; Polasek, Ozren O; Järvelin, Marjo-Riitta MR; Zhao, Jing Hua JH; Jarvis, Deborah D; Kähönen, Mika M; Franceschini, Nora N; North, Kari E KE; Loth, Daan W DW; Brusselle, Guy G GG; Smith, Albert Vernon AV; Gudnason, Vilmundur V; Bartz, Traci M TM; Wilk, Jemma B JB; O'Connor, George T GT; Cassano, Patricia A PA; Tang, Wenbo W; Wain, Louise V LV; Soler Artigas, María M; Gharib, Sina A SA; Strachan, David P DP; Sin, Don D DD; Tobin, Martin D MD; London, Stephanie J SJ; Hall, Ian P IP; Paré, Peter D PD
CCND2, CTNNB1, DDX3X, GLI2, SMARCA4, MYC, MYCN, PTCH1, TP53, and MLL2 gene variants and risk of childhood medulloblastoma.
Journal Of Neuro-Oncology
Dahlin, Anna M AM; Hollegaard, Mads V MV; Wibom, Carl C; Andersson, Ulrika U; Hougaard, David M DM; Deltour, Isabelle I; Hjalmars, Ulf U; Melin, Beatrice B
A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.
American Journal Of Respiratory And Critical Care Medicine
Cho, Michael H MH; Castaldi, Peter J PJ; Hersh, Craig P CP; Hobbs, Brian D BD; Barr, R Graham RG; Tal-Singer, Ruth R; Bakke, Per P; Gulsvik, Amund A; San José Estépar, Raúl R; Van Beek, Edwin J R EJ; Coxson, Harvey O HO; Lynch, David A DA; Washko, George R GR; Laird, Nan M NM; Crapo, James D JD; Beaty, Terri H TH; Silverman, Edwin K EK; ,
Common genetic determinants of lung function, subclinical atherosclerosis and risk of coronary artery disease.
Plos One
Sabater-Lleal, Maria M; Mälarstig, Anders A; Folkersen, Lasse L; Soler Artigas, María M; Baldassarre, Damiano D; Kavousi, Maryam M; Almgren, Peter P; Veglia, Fabrizio F; Brusselle, Guy G; Hofman, Albert A; Engström, Gunnar G; Franco, Oscar H OH; Melander, Olle O; Paulsson-Berne, Gabrielle G; Watkins, Hugh H; Eriksson, Per P; Humphries, Steve E SE; Tremoli, Elena E; de Faire, Ulf U; Tobin, Martin D MD; Hamsten, Anders A
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
Nature Genetics
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The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility.
American Journal Of Respiratory Cell And Molecular Biology
Castaldi, Peter J PJ; Cho, Michael H MH; Litonjua, Augusto A AA; Bakke, Per P; Gulsvik, Amund A; Lomas, David A DA; Anderson, Wayne W; Beaty, Terri H TH; Hokanson, John E JE; Crapo, James D JD; Laird, Nan N; Silverman, Edwin K EK; ,
Importance of hedgehog interacting protein and other lung function genes in asthma.
The Journal Of Allergy And Clinical Immunology
Li, Xingnan X; Howard, Timothy D TD; Moore, Wendy C WC; Ampleford, Elizabeth J EJ; Li, Huashi H; Busse, William W WW; Calhoun, William J WJ; Castro, Mario M; Chung, Kian Fan KF; Erzurum, Serpil C SC; Fitzpatrick, Anne M AM; Gaston, Benjamin B; Israel, Elliot E; Jarjour, Nizar N NN; Teague, W Gerald WG; Wenzel, Sally E SE; Peters, Stephen P SP; Hawkins, Gregory A GA; Bleecker, Eugene R ER; Meyers, Deborah A DA
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
Nature Genetics
Hancock, Dana B DB; Eijgelsheim, Mark M; Wilk, Jemma B JB; Gharib, Sina A SA; Loehr, Laura R LR; Marciante, Kristin D KD; Franceschini, Nora N; van Durme, Yannick M T A YM; Chen, Ting-Hsu TH; Barr, R Graham RG; Schabath, Matthew B MB; Couper, David J DJ; Brusselle, Guy G GG; Psaty, Bruce M BM; van Duijn, Cornelia M CM; Rotter, Jerome I JI; Uitterlinden, André G AG; Hofman, Albert A; Punjabi, Naresh M NM; Rivadeneira, Fernando F; Morrison, Alanna C AC; Enright, Paul L PL; North, Kari E KE; Heckbert, Susan R SR; Lumley, Thomas T; Stricker, Bruno H C BH; O'Connor, George T GT; London, Stephanie J SJ