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Items: 5

1.
A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere’s disease
Carmen Martín-Sierra, Teresa Requena, Lidia Frejo, Steven D. Price, Alvaro Gallego-Martinez, Angel Batuecas-Caletrio, Sofía Santos-Pérez, Andrés Soto-Varela, Anna Lysakowski, Jose A. Lopez-Escamez
Hum Mol Genet. 2016 Aug 15; 25(16): 3407–3415. Published online 2016 Jun 21. doi: 10.1093/hmg/ddw183
PMCID:
PMC5179939
AbstractArticlePDF–648K
2.
Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis
Hidekane Yoshimura, Yutaka Takumi, Shin-ya Nishio, Nobuyoshi Suzuki, Yoh-ichiro Iwasa, Shin-ichi Usami
PLoS One. 2014; 9(3): e92547. Published online 2014 Mar 27. doi: 10.1371/journal.pone.0092547
PMCID:
PMC3967995
AbstractArticlePDF–1.4M
3.
Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation
CE Teh, K Horikawa, CN Arnold, B Beutler, EM Kucharska, CG Vinuesa, EM Bertram, CC Goodnow, A Enders
Genes Immun. Author manuscript; available in PMC 2013 Dec 1.
Published in final edited form as: Genes Immun. 2013 Jun; 14(4): 223–233. Published online 2013 Apr 4. doi: 10.1038/gene.2013.11
PMCID:
PMC3676473
AbstractArticlePDF–912K
4.
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.
U Francke, B T Darras, N F Zander, M W Kilimann
Am J Hum Genet. 1989 Aug; 45(2): 276–282.
PMCID:
PMC1683359
SummaryPage BrowsePDF–988K
5.
Expression of protein kinase C beta in the heart causes hypertrophy in adult mice and sudden death in neonates.
J C Bowman, S F Steinberg, T Jiang, D L Geenen, G I Fishman, P M Buttrick
J Clin Invest. 1997 Nov 1; 100(9): 2189–2195. doi: 10.1172/JCI119755
PMCID:
PMC508413
SummaryPDF–454K

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