Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle-aged and older adults: A population-based cohort study.
Research And Practice In Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Halldén, Christer C; Elf, Johan J; Svensson, Peter J PJ; Engström, Gunnar G; Melander, Olle O; Baras, Aris A; Lotta, Luca A LA; Zöller, Bengt B; ,
Publication Date: 2022-10
Variant appearance in text: TFPI: Val292Met; rs5940
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: TFPI: 874G>A; Val292Met
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Single nucleotide polymorphisms in an intergenic chromosome 2q region associated with tissue factor pathway inhibitor plasma levels and venous thromboembolism.
Journal Of Thrombosis And Haemostasis : Jth
Dennis, J J; Truong, V V; Aïssi, D D; Medina-Rivera, A A; Blankenberg, S S; Germain, M M; Lemire, M M; Antounians, L L; Civelek, M M; Schnabel, R R; Wells, P P; Wilson, M D MD; Morange, P-E PE; Trégouët, D-A DA; Gagnon, F F
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
Plos One
Duvvari, Maheswara R MR; van de Ven, Johannes P H JP; Geerlings, Maartje J MJ; Saksens, Nicole T M NT; Bakker, Bjorn B; Henkes, Arjen A; Neveling, Kornelia K; del Rosario, Marisol M; Westra, Dineke D; van den Heuvel, Lambertus P W J LP; Schick, Tina T; Fauser, Sascha S; Boon, Camiel J F CJ; Hoyng, Carel B CB; de Jong, Eiko K EK; den Hollander, Anneke I AI
Publication Date: 2016
Variant appearance in text: TFPI: 874G>A; Val292Met; rs5940
Tumor expression, plasma levels and genetic polymorphisms of the coagulation inhibitor TFPI are associated with clinicopathological parameters and survival in breast cancer, in contrast to the coagulation initiator TF.
Breast Cancer Research : Bcr
Tinholt, Mari M; Vollan, Hans Kristian Moen HK; Sahlberg, Kristine Kleivi KK; Jernström, Sandra S; Kaveh, Fatemeh F; Lingjærde, Ole Christian OC; Kåresen, Rolf R; Sauer, Torill T; Kristensen, Vessela V; Børresen-Dale, Anne-Lise AL; Sandset, Per Morten PM; Iversen, Nina N
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
Genome-wide linkage analysis for identifying quantitative trait loci involved in the regulation of lipoprotein a (Lpa) levels.
European Journal Of Human Genetics : Ejhg
López, Sonia S; Buil, Alfonso A; Ordoñez, Jordi J; Souto, Juan Carlos JC; Almasy, Laura L; Lathrop, Mark M; Blangero, John J; Blanco-Vaca, Francisco F; Fontcuberta, Jordi J; Soria, José Manuel JM