Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.
Nature Communications
Han, Younghun Y; Byun, Jinyoung J; Zhu, Catherine C; Sun, Ryan R; Roh, Julia Y JY; Cordell, Heather J HJ; Lee, Hyun-Sung HS; Shaw, Vikram R VR; Kang, Sung Wook SW; Razjouyan, Javad J; Cooley, Matthew A MA; Hassan, Manal M MM; Siminovitch, Katherine A KA; Folseraas, Trine T; Ellinghaus, David D; Bergquist, Annika A; Rushbrook, Simon M SM; Franke, Andre A; Karlsen, Tom H TH; Lazaridis, Konstantinos N KN; , ; McGlynn, Katherine A KA; Roberts, Lewis R LR; Amos, Christopher I CI
JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.
Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21
Variant appearance in text: HFE: 340+4T>C; rs2071303
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: HFE: 340+4T>C; rs2071303
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
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
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
Genetic and transcriptional evolution alters cancer cell line drug response.
Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08
Variant appearance in text: HFE: 340+4T>C; rs2071303
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.
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26
Variant appearance in text: HFE: 340+4T>C; rs2071303
Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.
Bmc Genetics
Mikhailova, S V SV; Babenko, V N VN; Ivanoshchuk, D E DE; Gubina, M A MA; Maksimov, V N VN; Solovjova, I G IG; Voevoda, M I MI
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Plos One
Zaragoza, Michael V MV; Fung, Lianna L; Jensen, Ember E; Oh, Frances F; Cung, Katherine K; McCarthy, Linda A LA; Tran, Christine K CK; Hoang, Van V; Hakim, Simin A SA; Grosberg, Anna A
Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
Plos One
Branco, Claudia C CC; Gomes, Cidália T CT; De Fez, Laura L; Bulhões, Sara S; Brilhante, Maria José MJ; Pereirinha, Tânia T; Cabral, Rita R; Rego, Ana Catarina AC; Fraga, Cristina C; Miguel, António G AG; Brasil, Gracinda G; Macedo, Paula P; Mota-Vieira, Luisa L
Publication Date: 2015
Variant appearance in text: HFE: 340+4T>C; rs2071303
Dietary iron, iron homeostatic gene polymorphisms and the risk of advanced colorectal adenoma and cancer.
Carcinogenesis
Ruder, Elizabeth H EH; Berndt, Sonja I SI; Gilsing, Anne M J AM; Graubard, Barry I BI; Burdett, Laurie L; Hayes, Richard B RB; Weissfeld, Joel L JL; Ferrucci, Leah M LM; Sinha, Rashmi R; Cross, Amanda J AJ
Premenopausal plasma ferritin levels, HFE polymorphisms, and risk of breast cancer in the nurses' health study II.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Graff, Rebecca E RE; Cho, Eunyoung E; Lindström, Sara S; Kraft, Peter P; Willett, Walter C WC; Eliassen, A Heather AH