Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.
The British Journal Of Dermatology
Nagtzaam, Ivo F IF; van Leersum, Frank S FS; Kouwenberg, Laurie C M LCM; Blok, Marinus J MJ; Vreeburg, Maaike M; Steijlen, Peter M PM; Gostyński, Antoni A; van Geel, Michel M
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: NIPAL4: 527C>A; Ala176Asp; rs199422217
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
Plos One
Charfeddine, Cherine C; Laroussi, Nadia N; Mkaouar, Rahma R; Jouini, Raja R; Khayat, Olfa O; Redissi, Aladin A; Mosbah, Amor A; Dallali, Hamza H; Chedly Debbiche, Achraf A; Zaouak, Anissa A; Fenniche, Sami S; Abdelhak, Sonia S; Hammami-Ghorbel, Houda H
Publication Date: 2021
Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: NIPAL4: 527C>A; Ala176Asp; rs199422217
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Orphanet Journal Of Rare Diseases
Borská, Romana R; Pinková, Blanka B; Réblová, Kamila K; Bučková, Hana H; Kopečková, Lenka L; Němečková, Jitka J; Puchmajerová, Alena A; Malíková, Marcela M; Hermanová, Markéta M; Fajkusová, Lenka L
Publication Date: 2019-05-02
Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.
The American Journal Of Pathology
Mauldin, Elizabeth A EA; Crumrine, Debra D; Casal, Margret L ML; Jeong, Sekyoo S; Opálka, Lukáš L; Vavrova, Katerina K; Uchida, Yoshikazu Y; Park, Kyungho K; Craiglow, Brittany B; Choate, Keith A KA; Shin, Kyong-Oh KO; Lee, Yong-Moon YM; Grove, Gary L GL; Wakefield, Joan S JS; Khnykin, Denis D; Elias, Peter M PM
Publication Date: 2018-06
Variant appearance in text: NIPAL4: 527C>A; Ala176Asp
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Orphanet Journal Of Rare Diseases
Diociaiuti, Andrea A; El Hachem, May M; Pisaneschi, Elisa E; Giancristoforo, Simona S; Genovese, Silvia S; Sirleto, Pietro P; Boldrini, Renata R; Angioni, Adriano A