Výsledky vyhledávání - "UCLA Clinical Genomics Center"

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Publikováno v: American journal of human genetics, vol 107, iss 3

RNA polymerase II interacts with various other complexes and factors to ensure correct initiation, elongation, and termination of mRNA transcription. One of these proteins is SR-related CTD-associated factor 4 (SCAF4), which is important for correct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::a77c668499a0f0ca416eb4e510ca99a9
https://escholarship.org/uc/item/6pn9k34c

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Truncating mutations in APP cause a distinct neurological phenotype

Autor: Klein, Steven, Goldman, Alexander, Lee, Hane, Ghahremani, Shahnaz, Bhakta, Viraj, UCLA Clinical Genomics Center, Nelson, Stanley F, Martinez-Agosto, Julian A

Publikováno v: Annals of neurology, vol 80, iss 3

Dominant missense mutations in the amyloid β (Aβ) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of Aβ. We report that homozygous nonse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::c52169a8d27130bb3400a6e9f627575e
https://escholarship.org/uc/item/27b6823f

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Autor: Huang, Lijia, Vanstone, Megan R, Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A, Dipple, Katrina M, Dobyns, William B, Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P, Goel, Himanshu, Gregersen, Pernille A, Gripp, Karen W, Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H, Hudson, Cindy, Hunter, Alasdair GW, Johnson, John, Joss, Shelagh K, Kimball, Amy, Kini, Usha, Kline, Antonie D, Lauzon, Julie, Lildballe, Dorte L, López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M, Morel, Chantal F, Morton, Jenny EV, Pyle, Louise C, Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E, Schönewolf-Greulich, Bitten, Shears, Deborah J, Silver, Josh, Smith, Amanda C, Temple, I Karen, UCLA Clinical Genomics Center, van de Kamp, Jiddeke M, van Dijk, Fleur S, Vandersteen, Anthony M, White, Sue M, Zackai, Elaine H, Zou, Ruobing, Care4Rare Canada Consortium, Bulman, Dennis E, Boycott, Kym M, Lines, Matthew A

Publikováno v: Human mutation, vol 37, iss 2

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::88c93c413e5ff258da3b335cca1341cd
https://escholarship.org/uc/item/7bf8s425

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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

Autor: Arboleda, Valerie A, Lee, Hane, Dorrani, Naghmeh, Zadeh, Neda, Willis, Mary, Macmurdo, Colleen Forsyth, Manning, Melanie A, Kwan, Andrea, Hudgins, Louanne, Barthelemy, Florian, Miceli, M Carrie, Quintero-Rivera, Fabiola, Kantarci, Sibel, Strom, Samuel P, Deignan, Joshua L, UCLA Clinical Genomics Center, Grody, Wayne W, Vilain, Eric, Nelson, Stanley F

Publikováno v: American journal of human genetics, vol 96, iss 3

Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::8dc666ae46b150ea84951fa533f17865
https://escholarship.org/uc/item/80m7r988

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