Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: PCSK9: 2009G>A; Gly670Glu
Increased Carotid Intima-Media Thickness in Asymptomatic Individuals Is Associated with the PCSK9 (rs2149041) Gene Polymorphism in the Mexican Mestizo Population: Results of the GEA Cohort.
Life (Basel, Switzerland)
Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Pérez-Méndez, Óscar Ó; Pérez-Hernández, Nonanzit N; Rodríguez-Pérez, José Manuel JM
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.
Genome-Wide Association of Proprotein Convertase Subtilisin/Kexin Type 9 Plasma Levels in the ELSA-Brasil Study.
Frontiers In Genetics
Bensenor, Isabela I; Padilha, Kallyandra K; Lima, Isabella Ramos IR; Santos, Raul Dias RD; Lambert, Gilles G; Ramin-Mangata, Stéphane S; Bittencourt, Marcio S MS; Goulart, Alessandra C AC; Santos, Itamar S IS; Mill, Jose G JG; Krieger, Jose E JE; Lotufo, Paulo A PA; Pereira, Alexandre C AC
Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.
Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: PCSK9: 2009G>A; Gly670Glu; rs505151
Variants of PCSK9 Gene Are Associated with Subclinical Atherosclerosis and Cardiometabolic Parameters in Mexicans. The GEA Project.
Diagnostics (Basel, Switzerland)
Zamarrón-Licona, Erasmo E; Rodríguez-Pérez, José Manuel JM; Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Baños-González, Manuel Alfonso MA; Borgonio-Cuadra, Verónica Marusa VM; Pérez-Hernández, Nonanzit N
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: PCSK9: 2009G>A; G670E; rs505151
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
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.
Nature Genetics
Atkinson, Elizabeth G EG; Maihofer, Adam X AX; Kanai, Masahiro M; Martin, Alicia R AR; Karczewski, Konrad J KJ; Santoro, Marcos L ML; Ulirsch, Jacob C JC; Kamatani, Yoichiro Y; Okada, Yukinori Y; Finucane, Hilary K HK; Koenen, Karestan C KC; Nievergelt, Caroline M CM; Daly, Mark J MJ; Neale, Benjamin M BM
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: PCSK9: 2009G>A; G670E; rs505151
Proprotein Convertase Subtilisin/Kexin Type 9 Loss-of-Function Is Detrimental to the Juvenile Host With Septic Shock.
Critical Care Medicine
Atreya, Mihir R MR; Whitacre, Brynne E BE; Cvijanovich, Natalie Z NZ; Bigham, Michael T MT; Thomas, Neal J NJ; Schwarz, Adam J AJ; Weiss, Scott L SL; Fitzgerald, Julie C JC; Allen, Geoffrey L GL; Lutfi, Riad R; Nowak, Jeffrey E JE; Quasney, Michael W MW; Shah, Amy S AS; Wong, Hector R HR
Publication Date: 2020-10
Variant appearance in text: PCSK9: G670E; rs505151
Serum Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) is Independently Associated with Insulin Resistance, Triglycerides, Lipoprotein(a) Levels but not Low-Density Lipoprotein Cholesterol Levels in a General Population.
Journal Of Atherosclerosis And Thrombosis
Hamamura, Hitoshi H; Adachi, Hisashi H; Enomoto, Mika M; Fukami, Ako A; Nakamura, Sachiko S; Nohara, Yume Y; Morikawa, Nagisa N; Sakaue, Akiko A; Toyomasu, Kenta K; Yamamoto, Maki M; Fukumoto, Yoshihiro Y
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF