Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: TCF19: P109S; rs7750641
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: TCF19: 325C>T; P109S; rs7750641
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: TCF19: 325C>T; Pro109Ser
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
Publication Date: 2019-10-09
Variant appearance in text: TCF19: P109S; rs7750641
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.
Plos One
Volkov, Petr P; Olsson, Anders H AH; Gillberg, Linn L; Jørgensen, Sine W SW; Brøns, Charlotte C; Eriksson, Karl-Fredrik KF; Groop, Leif L; Jansson, Per-Anders PA; Nilsson, Emma E; Rönn, Tina T; Vaag, Allan A; Ling, Charlotte C
A genome-wide association study of marginal zone lymphoma shows association to the HLA region.
Nature Communications
Vijai, Joseph J; Wang, Zhaoming Z; Berndt, Sonja I SI; Skibola, Christine F CF; Slager, Susan L SL; de Sanjose, Silvia S; Melbye, Mads M; Glimelius, Bengt B; Bracci, Paige M PM; Conde, Lucia L; Birmann, Brenda M BM; Wang, Sophia S SS; Brooks-Wilson, Angela R AR; Lan, Qing Q; de Bakker, Paul I W PI; Vermeulen, Roel C H RC; Portlock, Carol C; Ansell, Stephen M SM; Link, Brian K BK; Riby, Jacques J; North, Kari E KE; Gu, Jian J; Hjalgrim, Henrik H; Cozen, Wendy W; Becker, Nikolaus N; Teras, Lauren R LR; Spinelli, John J JJ; Turner, Jenny J; Zhang, Yawei Y; Purdue, Mark P MP; Giles, Graham G GG; Kelly, Rachel S RS; Zeleniuch-Jacquotte, Anne A; Ennas, Maria Grazia MG; Monnereau, Alain A; Bertrand, Kimberly A KA; Albanes, Demetrius D; Lightfoot, Tracy T; Yeager, Meredith M; Chung, Charles C CC; Burdett, Laurie L; Hutchinson, Amy A; Lawrence, Charles C; Montalvan, Rebecca R; Liang, Liming L; Huang, Jinyan J; Ma, Baoshan B; Villano, Danylo J DJ; Maria, Ann A; Corines, Marina M; Thomas, Tinu T; Novak, Anne J AJ; Dogan, Ahmet A; Liebow, Mark M; Thompson, Carrie A CA; Witzig, Thomas E TE; Habermann, Thomas M TM; Weiner, George J GJ; Smith, Martyn T MT; Holly, Elizabeth A EA; Jackson, Rebecca D RD; Tinker, Lesley F LF; Ye, Yuanqing Y; Adami, Hans-Olov HO; Smedby, Karin E KE; De Roos, Anneclaire J AJ; Hartge, Patricia P; Morton, Lindsay M LM; Severson, Richard K RK; Benavente, Yolanda Y; Boffetta, Paolo P; Brennan, Paul P; Foretova, Lenka L; Maynadie, Marc M; McKay, James J; Staines, Anthony A; Diver, W Ryan WR; Vajdic, Claire M CM; Armstrong, Bruce K BK; Kricker, Anne A; Zheng, Tongzhang T; Holford, Theodore R TR; Severi, Gianluca G; Vineis, Paolo P; Ferri, Giovanni M GM; Ricco, Rosalia R; Miligi, Lucia L; Clavel, Jacqueline J; Giovannucci, Edward E; Kraft, Peter P; Virtamo, Jarmo J; Smith, Alex A; Kane, Eleanor E; Roman, Eve E; Chiu, Brian C H BC; Fraumeni, Joseph F JF; Wu, Xifeng X; Cerhan, James R JR; Offit, Kenneth K; Chanock, Stephen J SJ; Rothman, Nathaniel N; Nieters, Alexandra A
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: TCF19: P109S; rs7750641
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
Genes And Immunity
Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO
Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.
Annals Of Neurology
Gregersen, Peter K PK; Kosoy, Roman R; Lee, Annette T AT; Lamb, Janine J; Sussman, Jon J; McKee, David D; Simpfendorfer, Kim R KR; Pirskanen-Matell, Ritva R; Piehl, Frederik F; Pan-Hammarstrom, Qiang Q; Verschuuren, Jan J G M JJ; Titulaer, Maarten J MJ; Niks, Erik H EH; Marx, Alexander A; Ströbel, Philipp P; Tackenberg, Björn B; Pütz, Michael M; Maniaol, Angelina A; Elsais, Ahmed A; Tallaksen, Chantal C; Harbo, Hanne F HF; Lie, Benedicte A BA; Raychaudhuri, Soumya S; de Bakker, Paul I W PI; Melms, Arthur A; Garchon, Henri-Jean HJ; Willcox, Nicholas N; Hammarstrom, Lennart L; Seldin, Michael F MF
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.
Arthritis And Rheumatism
Clancy, Robert M RM; Marion, Miranda C MC; Kaufman, Kenneth M KM; Ramos, Paula S PS; Adler, Adam A; , ; Harley, John B JB; Langefeld, Carl D CD; Buyon, Jill P JP
Sequence variants in three loci influence monocyte counts and erythrocyte volume.
American Journal Of Human Genetics
Ferreira, Manuel A R MA; Hottenga, Jouke-Jan JJ; Warrington, Nicole M NM; Medland, Sarah E SE; Willemsen, Gonneke G; Lawrence, Robert W RW; Gordon, Scott S; de Geus, Eco J C EJ; Henders, Anjali K AK; Smit, Johannes H JH; Campbell, Megan J MJ; Wallace, Leanne L; Evans, David M DM; Wright, Margaret J MJ; Nyholt, Dale R DR; James, Alan L AL; Beilby, John P JP; Penninx, Brenda W BW; Palmer, Lyle J LJ; Frazer, Ian H IH; Montgomery, Grant W GW; Martin, Nicholas G NG; Boomsma, Dorret I DI
Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene.
American Journal Of Human Genetics
Nair, Rajan P RP; Stuart, Philip E PE; Nistor, Ioana I; Hiremagalore, Ravi R; Chia, Nicholas V C NVC; Jenisch, Stefan S; Weichenthal, Michael M; Abecasis, Gonçalo R GR; Lim, Henry W HW; Christophers, Enno E; Voorhees, John J JJ; Elder, James T JT