Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: ABCG5: 148C>T; Arg50Cys
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Hepatology Communications
Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK
Publication Date: 2022-11
Variant appearance in text: ABCG5: R50C; rs6756629
Revealing the Role of High-Density Lipoprotein in Colorectal Cancer.
International Journal Of Molecular Sciences
Zeljkovic, Aleksandra A; Vekic, Jelena J; Mihajlovic, Marija M; Gojkovic, Tamara T; Vladimirov, Sandra S; Zeljkovic, Dejan D; Spasojevic-Kalimanovska, Vesna V; Trifunovic, Bratislav B
Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.
Nature Communications
Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK
Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.
Febs Letters
Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: ABCG5: 148C>T; Arg50Cys
Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes.
Molecular Biology And Evolution
Ávila-Arcos, María C MC; McManus, Kimberly F KF; Sandoval, Karla K; Rodríguez-Rodríguez, Juan Esteban JE; Villa-Islas, Viridiana V; Martin, Alicia R AR; Luisi, Pierre P; Peñaloza-Espinosa, Rosenda I RI; Eng, Celeste C; Huntsman, Scott S; Burchard, Esteban G EG; Gignoux, Christopher R CR; Bustamante, Carlos D CD; Moreno-Estrada, Andrés A
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: ABCG5: R50C; rs6756629
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: ABCG5: 148C>T; Arg50Cys; rs6756629
SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.
Liver International : Official Journal Of The International Association For The Study Of The Liver
Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,
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.
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24
Variant appearance in text: ABCG5: R50C; rs6756629
Genetic contribution to lipid levels in early life based on 158 loci validated in adults: the FAMILY study.
Scientific Reports
Christie, Shanice S; Robiou-du-Pont, Sébastien S; Anand, Sonia S SS; Morrison, Katherine M KM; McDonald, Sarah D SD; Paré, Guillaume G; Atkinson, Stephanie A SA; Teo, Koon K KK; Meyre, David D
Analysis with the exome array identifies multiple new independent variants in lipid loci.
Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Evidence that the adenosine triphosphate-binding cassette G5/G8-independent pathway plays a determinant role in cholesterol gallstone formation in mice.
Hepatology (Baltimore, Md.)
Wang, Helen H HH; Li, Xiaodan X; Patel, Shailendra B SB; Wang, David Q-H DQ
Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.
Nature Communications
Kettunen, Johannes J; Demirkan, Ayşe A; Würtz, Peter P; Draisma, Harmen H M HH; Haller, Toomas T; Rawal, Rajesh R; Vaarhorst, Anika A; Kangas, Antti J AJ; Lyytikäinen, Leo-Pekka LP; Pirinen, Matti M; Pool, René R; Sarin, Antti-Pekka AP; Soininen, Pasi P; Tukiainen, Taru T; Wang, Qin Q; Tiainen, Mika M; Tynkkynen, Tuulia T; Amin, Najaf N; Zeller, Tanja T; Beekman, Marian M; Deelen, Joris J; van Dijk, Ko Willems KW; Esko, Tõnu T; Hottenga, Jouke-Jan JJ; van Leeuwen, Elisabeth M EM; Lehtimäki, Terho T; Mihailov, Evelin E; Rose, Richard J RJ; de Craen, Anton J M AJ; Gieger, Christian C; Kähönen, Mika M; Perola, Markus M; Blankenberg, Stefan S; Savolainen, Markku J MJ; Verhoeven, Aswin A; Viikari, Jorma J; Willemsen, Gonneke G; Boomsma, Dorret I DI; van Duijn, Cornelia M CM; Eriksson, Johan J; Jula, Antti A; Järvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Metspalu, Andres A; Raitakari, Olli O; Salomaa, Veikko V; Slagboom, P Eline PE; Waldenberger, Melanie M; Ripatti, Samuli S; Ala-Korpela, Mika M
Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.
European Journal Of Human Genetics : Ejhg
Rodriguez, Santiago S; Gaunt, Tom R TR; Guo, Yiran Y; Zheng, Jie J; Barnes, Michael R MR; Tang, Weihang W; Danish, Fazal F; Johnson, Andrew A; Castillo, Berta A BA; Li, Yun R YR; Hakonarson, Hakon H; Buxbaum, Sarah G SG; Palmer, Tom T; Tsai, Michael Y MY; Lange, Leslie A LA; Ebrahim, Shah S; Davey Smith, George G; Lawlor, Debbie A DA; Folsom, Aaron R AR; Hoogeveen, Ron R; Reiner, Alex A; Keating, Brendan B; Day, Ian N M IN
Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.
Nature
Wong, Terrence N TN; Ramsingh, Giridharan G; Young, Andrew L AL; Miller, Christopher A CA; Touma, Waseem W; Welch, John S JS; Lamprecht, Tamara L TL; Shen, Dong D; Hundal, Jasreet J; Fulton, Robert S RS; Heath, Sharon S; Baty, Jack D JD; Klco, Jeffery M JM; Ding, Li L; Mardis, Elaine R ER; Westervelt, Peter P; DiPersio, John F JF; Walter, Matthew J MJ; Graubert, Timothy A TA; Ley, Timothy J TJ; Druley, Todd T; Link, Daniel C DC; Wilson, Richard K RK
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ABCG5: R50C; rs6756629
A genome-wide pleiotropy scan for prostate cancer risk.
European Urology
Panagiotou, Orestis A OA; Travis, Ruth C RC; Campa, Daniele D; Berndt, Sonja I SI; Lindstrom, Sara S; Kraft, Peter P; Schumacher, Fredrick R FR; Siddiq, Afshan A; Papatheodorou, Stefania I SI; Stanford, Janet L JL; Albanes, Demetrius D; Virtamo, Jarmo J; Weinstein, Stephanie J SJ; Diver, W Ryan WR; Gapstur, Susan M SM; Stevens, Victoria L VL; Boeing, Heiner H; Bueno-de-Mesquita, H Bas HB; Barricarte Gurrea, Aurelio A; Kaaks, Rudolf R; Khaw, Kay-Tee KT; Krogh, Vittorio V; Overvad, Kim K; Riboli, Elio E; Trichopoulos, Dimitrios D; Giovannucci, Edward E; Stampfer, Meir M; Haiman, Christopher C; Henderson, Brian B; Le Marchand, Loic L; Gaziano, J Michael JM; Hunter, David J DJ; Koutros, Stella S; Yeager, Meredith M; Hoover, Robert N RN; , ; Chanock, Stephen J SJ; Wacholder, Sholom S; Key, Timothy J TJ; Tsilidis, Konstantinos K KK
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: ABCG5: R50C; rs6756629
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.
Nature Genetics
Holmen, Oddgeir L OL; Zhang, He H; Fan, Yanbo Y; Hovelson, Daniel H DH; Schmidt, Ellen M EM; Zhou, Wei W; Guo, Yanhong Y; Zhang, Ji J; Langhammer, Arnulf A; Løchen, Maja-Lisa ML; Ganesh, Santhi K SK; Vatten, Lars L; Skorpen, Frank F; Dalen, Håvard H; Zhang, Jifeng J; Pennathur, Subramaniam S; Chen, Jin J; Platou, Carl C; Mathiesen, Ellisiv B EB; Wilsgaard, Tom T; Njølstad, Inger I; Boehnke, Michael M; Chen, Y Eugene YE; Abecasis, Gonçalo R GR; Hveem, Kristian K; Willer, Cristen J CJ
Publication Date: 2014-04
Variant appearance in text: ABCG5: Arg50Cys; rs6756629
Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.
Plos Genetics
Service, Susan K SK; Teslovich, Tanya M TM; Fuchsberger, Christian C; Ramensky, Vasily V; Yajnik, Pranav P; Koboldt, Daniel C DC; Larson, David E DE; Zhang, Qunyuan Q; Lin, Ling L; Welch, Ryan R; Ding, Li L; McLellan, Michael D MD; O'Laughlin, Michele M; Fronick, Catrina C; Fulton, Lucinda L LL; Magrini, Vincent V; Swift, Amy A; Elliott, Paul P; Jarvelin, Marjo-Riitta MR; Kaakinen, Marika M; McCarthy, Mark I MI; Peltonen, Leena L; Pouta, Anneli A; Bonnycastle, Lori L LL; Collins, Francis S FS; Narisu, Narisu N; Stringham, Heather M HM; Tuomilehto, Jaakko J; Ripatti, Samuli S; Fulton, Robert S RS; Sabatti, Chiara C; Wilson, Richard K RK; Boehnke, Michael M; Freimer, Nelson B NB
Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III).
Bmc Medical Genetics
Goodloe, Robert R; Brown-Gentry, Kristin K; Gillani, Niloufar B NB; Jin, Hailing H; Mayo, Ping P; Allen, Melissa M; McClellan, Bob B; Boston, Jonathan J; Sutcliffe, Cara C; Schnetz-Boutaud, Nathalie N; Dilks, Holli H HH; Crawford, Dana C DC
Publication Date: 2013-11-21
Variant appearance in text: ABCG5: R50C; rs6756629
Non-cholesterol sterol levels predict hyperglycemia and conversion to type 2 diabetes in Finnish men.
Plos One
Cederberg, Henna H; Gylling, Helena H; Miettinen, Tatu A TA; Paananen, Jussi J; Vangipurapu, Jagadish J; Pihlajamäki, Jussi J; Kuulasmaa, Teemu T; Stančáková, Alena A; Smith, Ulf U; Kuusisto, Johanna J; Laakso, Markku M
Association of cardiovascular and metabolic disease genes with psoriasis.
The Journal Of Investigative Dermatology
Lu, Yingchang Y; Chen, Haoyan H; Nikamo, Pernilla P; Qi Low, Hui H; Helms, Cynthia C; Seielstad, Mark M; Liu, Jianjun J; Bowcock, Anne M AM; Stahle, Mona M; Liao, Wilson W
Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol.
Atherosclerosis
Shirts, Brian H BH; Howard, Michael T MT; Hasstedt, Sandra J SJ; Nanjee, M Nazeem MN; Knight, Stacey S; Carlquist, John F JF; Anderson, Jeffrey L JL; Hopkins, Paul N PN; Hunt, Steven C SC
Evaluation of the gene-age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent.
Atherosclerosis
Shirts, Brian H BH; Hasstedt, Sandra J SJ; Hopkins, Paul N PN; Hunt, Steven C SC
Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
Plos One
Zeller, Tanja T; Wild, Philipp P; Szymczak, Silke S; Rotival, Maxime M; Schillert, Arne A; Castagne, Raphaele R; Maouche, Seraya S; Germain, Marine M; Lackner, Karl K; Rossmann, Heidi H; Eleftheriadis, Medea M; Sinning, Christoph R CR; Schnabel, Renate B RB; Lubos, Edith E; Mennerich, Detlev D; Rust, Werner W; Perret, Claire C; Proust, Carole C; Nicaud, Viviane V; Loscalzo, Joseph J; Hübner, Norbert N; Tregouet, David D; Münzel, Thomas T; Ziegler, Andreas A; Tiret, Laurence L; Blankenberg, Stefan S; Cambien, François F
Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
Lipids In Health And Disease
Ronald, James J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane E JE; Marshall, Julieann K JK; Hatsukami, Thomas S TS; Heagerty, Patrick J PJ; Jarvik, Gail P GP
Differential binding and co-binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells revealed by ChIP-seq.
Genome Biology
Motallebipour, Mehdi M; Ameur, Adam A; Reddy Bysani, Madhu Sudhan MS; Patra, Kalicharan K; Wallerman, Ola O; Mangion, Jonathan J; Barker, Melissa A MA; McKernan, Kevin J KJ; Komorowski, Jan J; Wadelius, Claes C
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Nature Genetics
Aulchenko, Yurii S YS; Ripatti, Samuli S; Lindqvist, Ida I; Boomsma, Dorret D; Heid, Iris M IM; Pramstaller, Peter P PP; Penninx, Brenda W J H BW; Janssens, A Cecile J W AC; Wilson, James F JF; Spector, Tim T; Martin, Nicholas G NG; Pedersen, Nancy L NL; Kyvik, Kirsten Ohm KO; Kaprio, Jaakko J; Hofman, Albert A; Freimer, Nelson B NB; Jarvelin, Marjo-Riitta MR; Gyllensten, Ulf U; Campbell, Harry H; Rudan, Igor I; Johansson, Asa A; Marroni, Fabio F; Hayward, Caroline C; Vitart, Veronique V; Jonasson, Inger I; Pattaro, Cristian C; Wright, Alan A; Hastie, Nick N; Pichler, Irene I; Hicks, Andrew A AA; Falchi, Mario M; Willemsen, Gonneke G; Hottenga, Jouke-Jan JJ; de Geus, Eco J C EJ; Montgomery, Grant W GW; Whitfield, John J; Magnusson, Patrik P; Saharinen, Juha J; Perola, Markus M; Silander, Kaisa K; Isaacs, Aaron A; Sijbrands, Eric J G EJ; Uitterlinden, Andre G AG; Witteman, Jacqueline C M JC; Oostra, Ben A BA; Elliott, Paul P; Ruokonen, Aimo A; Sabatti, Chiara C; Gieger, Christian C; Meitinger, Thomas T; Kronenberg, Florian F; Döring, Angela A; Wichmann, H-Erich HE; Smit, Johannes H JH; McCarthy, Mark I MI; van Duijn, Cornelia M CM; Peltonen, Leena L; ,