Solanki, Kaushal V KV; Hu, Yirui Y; Moore, Bryn S BS; Abedi, Vida V; Avula, Venkatesh V; Mirshahi, Tooraj T; , ; Strande, Natasha T NT; Bucaloiu, Ion D ID; Chang, Alexander R AR
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: 1871G>A; Gly624Asp
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: 1871G>A; Gly624Asp
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
Publication Date: 2022-12
Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities.
The 2019 and 2021 International Workshops on Alport Syndrome.
European Journal Of Human Genetics : Ejhg
Daga, Sergio S; Ding, Jie J; Deltas, Constantinos C; Savige, Judy J; Lipska-Ziętkiewicz, Beata S BS; Hoefele, Julia J; Flinter, Frances F; Gale, Daniel P DP; Aksenova, Marina M; Kai, Hirofumi H; Perin, Laura L; Barua, Moumita M; Torra, Roser R; Miner, Jeff H JH; Massella, Laura L; Ljubanović, Danica Galešić DG; Lennon, Rachel R; Weinstock, Andrè B AB; Knebelmann, Bertrand B; Cerkauskaite, Agne A; Gear, Susie S; Gross, Oliver O; Turner, A Neil AN; Baldassarri, Margherita M; Pinto, Anna Maria AM; Renieri, Alessandra A
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Scientific Reports
Gibson, Joel T JT; Huang, Mary M; Shenelli Croos Dabrera, Marina M; Shukla, Krushnam K; Rothe, Hansjörg H; Hilbert, Pascale P; Deltas, Constantinos C; Storey, Helen H; Lipska-Ziętkiewicz, Beata S BS; Chan, Melanie M Y MMY; Sadeghi-Alavijeh, Omid O; Gale, Daniel P DP; , ; Cerkauskaite, Agne A; Savige, Judy J
Modelling X-linked Alport Syndrome With Induced Pluripotent Stem Cell-Derived Podocytes.
Kidney International Reports
Lau, Ricky Wai Kiu RWK; Fisher, Craig C; Phan, Thanh Kha TK; Ozkocak, Dilara Ceyda DC; Selby, James J; Saini, Sheetal S; Mukundan, Sarvatha S; Wise, Andrea F AF; Savige, Judith J; Ho Poon, Ivan Ka IK; Haynes, John J; Ricardo, Sharon D SD
Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC
Publication Date: 2021
Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
International Journal Of Molecular Sciences
Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; González-Del Pozo, María M; Méndez-Vidal, Cristina C; Fernández-Suárez, Elena E; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G
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
Publication Date: 2019
Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10
Variant appearance in text: COL4A5: 1871G>A; G624D
Genotype and Outcome After Kidney Transplantation in Alport Syndrome.
Kidney International Reports
Gillion, Valentine V; Dahan, Karin K; Cosyns, Jean-Pierre JP; Hilbert, Pascale P; Jadoul, Michel M; Goffin, Eric E; Godefroid, Nathalie N; De Meyer, Martine M; Mourad, Michel M; Pirson, Yves Y; Kanaan, Nada N
Publication Date: 2018-05
Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.
Kidney International Reports
Wang, Dongmao D; Mohammad, Mardhiah M; Wang, Yanyan Y; Tan, Rachel R; Murray, Lydia S LS; Ricardo, Sharon S; Dagher, Hayat H; van Agtmael, Tom T; Savige, Judy J
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
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
Plos One
Kovács, Gábor G; Kalmár, Tibor T; Endreffy, Emőke E; Ondrik, Zoltán Z; Iványi, Béla B; Rikker, Csaba C; Haszon, Ibolya I; Túri, Sándor S; Sinkó, Mária M; Bereczki, Csaba C; Maróti, Zoltán Z
Publication Date: 2016
Variant appearance in text: COL4A5: 1871G>A; Gly624Asp
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
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.
The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10
Variant appearance in text: COL4A5: G624D; rs104886142
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
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: COL4A5: 1871G>A; G624D; rs104886142