Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: DNMT1: 290A>G; His97Arg
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Susceptibility of Genetic Variations in Methylation Pathway to Gastric Cancer.
Pharmacogenomics And Personalized Medicine
Xiong, Mengqiu M; Pan, Bei B; Wang, Xuhong X; Nie, Junjie J; Pan, Yuqin Y; Sun, Huiling H; Xu, Tao T; Cho, William C S WCS; Wang, Shukui S; He, Bangshun B
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
Journal Of Hepatology
Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
Journal Of Hepatology
Cordell, Heather J HJ; Fryett, James J JJ; Ueno, Kazuko K; Darlay, Rebecca R; Aiba, Yoshihiro Y; Hitomi, Yuki Y; Kawashima, Minae M; Nishida, Nao N; Khor, Seik-Soon SS; Gervais, Olivier O; Kawai, Yosuke Y; Nagasaki, Masao M; Tokunaga, Katsushi K; Tang, Ruqi R; Shi, Yongyong Y; Li, Zhiqiang Z; Juran, Brian D BD; Atkinson, Elizabeth J EJ; Gerussi, Alessio A; Carbone, Marco M; Asselta, Rosanna R; Cheung, Angela A; de Andrade, Mariza M; Baras, Aris A; Horowitz, Julie J; Ferreira, Manuel A R MAR; Sun, Dylan D; Jones, David E DE; Flack, Steven S; Spicer, Ann A; Mulcahy, Victoria L VL; Byan, Jinyoung J; Han, Younghun Y; Sandford, Richard N RN; Lazaridis, Konstantinos N KN; Amos, Christopher I CI; Hirschfield, Gideon M GM; Seldin, Michael F MF; Invernizzi, Pietro P; Siminovitch, Katherine A KA; Ma, Xiong X; Nakamura, Minoru M; Mells, George F GF; , ; , ; , ; , ; , ; , ; ,
Epigenetic Mechanisms in Gastric Cancer: Potential New Therapeutic Opportunities.
International Journal Of Molecular Sciences
Canale, Matteo M; Casadei-Gardini, Andrea A; Ulivi, Paola P; Arechederra, Maria M; Berasain, Carmen C; Lollini, Pier-Luigi PL; Fernández-Barrena, Maite G MG; Avila, Matías A MA
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.
The Genetic Architecture of Arsenic Metabolism Efficiency:A SNP-Based Heritability Study of Bangladeshi Adults.
Environmental Health Perspectives
Gao, Jianjun J; Tong, Lin L; Argos, Maria M; Scannell Bryan, Molly M; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Kibriya, Muhammad G MG; Jasmine, Farzana F; Slavkovich, Vesna V; Graziano, Joseph H JH; Ahsan, Habibul H; Pierce, Brandon L BL
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: DNMT1: H97R; rs16999593
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014
Variant appearance in text: DNMT1: H97R; rs16999593
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
Journal Of Clinical Neurology (Seoul, Korea)
Park, Jin J; Hyun, Young Se YS; Kim, Ye Jin YJ; Nam, Soo Hyun SH; Kim, Sung-Hee SH; Hong, Young Bin YB; Park, Jin-Mo JM; Chung, Ki Wha KW; Choi, Byung-Ok BO
Publication Date: 2013-10
Variant appearance in text: DNMT1: H97R; rs16999593
Association of polymorphisms in DNMT1, DNMT3A, DNMT3B, MTHFR and MTRR genes with global DNA methylation levels and prognosis of autoimmune thyroid disease.
Clinical And Experimental Immunology
Arakawa, Y Y; Watanabe, M M; Inoue, N N; Sarumaru, M M; Hidaka, Y Y; Iwatani, Y Y
Polymorphisms in arsenic(+III oxidation state) methyltransferase (AS3MT) predict gene expression of AS3MT as well as arsenic metabolism.
Environmental Health Perspectives
Engström, Karin K; Vahter, Marie M; Mlakar, Simona Jurkovic SJ; Concha, Gabriela G; Nermell, Barbro B; Raqib, Rubhana R; Cardozo, Alejandro A; Broberg, Karin K