Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: COL4A5: 1883C>T; Pro628Leu
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: COL4A5: 1883C>T; Pro628Leu
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
European Journal Of Human Genetics : Ejhg
Popp, Bernt B; Ekici, Arif B AB; Knaup, Karl X KX; Schneider, Karen K; Uebe, Steffen S; Park, Jonghun J; Bafna, Vineet V; Meiselbach, Heike H; Eckardt, Kai-Uwe KU; Schiffer, Mario M; Reis, André A; Kraus, Cornelia C; Wiesener, Michael M
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12
Variant appearance in text: COL4A5: 1883C>T; P628L
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome.
Frontiers In Pediatrics
Macheroux, Eva Pauline EP; Braunisch, Matthias C MC; Pucci Pegler, Stephanie S; Satanovskij, Robin R; Riedhammer, Korbinian M KM; Günthner, Roman R; Gross, Oliver O; Nagel, Mato M; Renders, Lutz L; Hoefele, Julia J
Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS).
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Plos One
Savige, Judith J; Storey, Helen H; Il Cheong, Hae H; Gyung Kang, Hee H; Park, Eujin E; Hilbert, Pascale P; Persikov, Anton A; Torres-Fernandez, Carmen C; Ars, Elisabet E; Torra, Roser R; Hertz, Jens Michael JM; Thomassen, Mads M; Shagam, Lev L; Wang, Dongmao D; Wang, Yanyan Y; Flinter, Frances F; Nagel, Mato M
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Pediatric Nephrology (Berlin, Germany)
Lennon, Rachel R; Stuart, Helen M HM; Bierzynska, Agnieszka A; Randles, Michael J MJ; Kerr, Bronwyn B; Hillman, Katherine A KA; Batra, Gauri G; Campbell, Joanna J; Storey, Helen H; Flinter, Frances A FA; Koziell, Ania A; Welsh, Gavin I GI; Saleem, Moin A MA; Webb, Nicholas J A NJ; Woolf, Adrian S AS
X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.
Hippokratia
Pierides, A A; Voskarides, K K; Kkolou, M M; Hadjigavriel, M M; Deltas, C C