Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Circulation
Dijk, Wieneke W; Di Filippo, Mathilde M; Kooijman, Sander S; van Eenige, Robin R; Rimbert, Antoine A; Caillaud, Amandine A; Thedrez, Aurélie A; Arnaud, Lucie L; Pronk, Amanda A; Garçon, Damien D; Sotin, Thibaud T; Lindenbaum, Pierre P; Ozcariz Garcia, Enrique E; Pais de Barros, Jean-Paul JP; Duvillard, Laurence L; Si-Tayeb, Karim K; Amigo, Nuria N; Le Questel, Jean-Yves JY; Rensen, Patrick C N PCN; Le May, Cédric C; Moulin, Philippe P; Cariou, Bertrand B
Publication Date: 2022-09-06
Variant appearance in text: VLDLR: 242A>G; Asn81Ser; rs140526335
Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.
Translational Psychiatry
Teles E Silva, André Luíz AL; Glaser, Talita T; Griesi-Oliveira, Karina K; Corrêa-Velloso, Juliana J; Wang, Jaqueline Yu Ting JYT; da Silva Campos, Gabriele G; Ulrich, Henning H; Balan, Andrea A; Zarrei, Mehdi M; Higginbotham, Edward J EJ; Scherer, Stephen W SW; Passos-Bueno, Maria Rita MR; Sertié, Andrea Laurato AL
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.
Cells
Grigorenko, Anastasia P AP; Protasova, Maria S MS; Lisenkova, Alexandra A AA; Reshetov, Denis A DA; Andreeva, Tatiana V TV; Garcias, Gilberto De Lima GL; Martino Roth, Maria Da Graça MDG; Papassotiropoulos, Andreas A; Rogaev, Evgeny I EI
Neurodevelopmental Syndrome with Intellectual Disability, Speech Impairment, and Quadrupedia Is Associated with Glutamate Receptor Delta 2 Gene Defect.
Cells
Grigorenko, Anastasia P AP; Protasova, Maria S MS; Lisenkova, Alexandra A AA; Reshetov, Denis A DA; Andreeva, Tatiana V TV; Garcias, Gilberto De Lima GL; Martino Roth, Maria Da Graça MDG; Papassotiropoulos, Andreas A; Rogaev, Evgeny I EI
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
Publication Date: 2018-11-01
Variant appearance in text: VLDLR: N81S; rs140526335
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: VLDLR: N81S; rs140526335