Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
Biorxiv : The Preprint Server For Biology
Behera, S S; Belyeu, J R JR; Chen, X X; Paulin, L F LF; Nguyen, N Q H NQH; Newman, E E; Mahmoud, M M; Menon, V K VK; Qi, Q Q; Joshi, P P; Marcovina, S S; Rossi, M M; Roller, E E; Han, J J; Onuchic, V V; Avery, C L CL; Ballantyne, C M CM; Rodriguez, C J CJ; Kaplan, R C RC; Muzny, D M DM; Metcalf, G A GA; Gibbs, R R; Yu, B B; Boerwinkle, E E; Eberle, M A MA; Sedlazeck, F J FJ
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
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.
Apolipoprotein(a) Kringle-IV Type 2 Copy Number Variation Is Associated with Venous Thromboembolism.
Plos One
Sticchi, Elena E; Magi, Alberto A; Kamstrup, Pia R PR; Marcucci, Rossella R; Prisco, Domenico D; Martinelli, Ida I; Mannucci, Pier Mannuccio PM; Abbate, Rosanna R; Giusti, Betti B
A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
Stroke
Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,
Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q.
Journal Of Lipid Research
Ober, Carole C; Nord, Alex S AS; Thompson, Emma E EE; Pan, Lin L; Tan, Zheng Z; Cusanovich, Darren D; Sun, Ying Y; Nicolae, Raluca R; Edelstein, Celina C; Schneider, Daniel H DH; Billstrand, Christine C; Pfaffinger, Ditta D; Phillips, Natasha N; Anderson, Rebecca L RL; Philips, Binu B; Rajagopalan, Ramakrishnan R; Hatsukami, Thomas S TS; Rieder, Mark J MJ; Heagerty, Patrick J PJ; Nickerson, Deborah A DA; Abney, Mark M; Marcovina, Santica S; Jarvik, Gail P GP; Scanu, Angelo M AM; Nicolae, Dan L DL
LPA and PLG sequence variation and kringle IV-2 copy number in two populations.
Human Heredity
Crawford, Dana C DC; Peng, Ze Z; Cheng, Jan-Fang JF; Boffelli, Dario D; Ahearn, Magdalena M; Nguyen, Dan D; Shaffer, Tristan T; Yi, Qian Q; Livingston, Robert J RJ; Rieder, Mark J MJ; Nickerson, Deborah A DA