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CCDC47

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https://www.readbyqxmd.com/read/30401460/bi-allelic-ccdc47-variants-cause-a-disorder-characterized-by-woolly-hair-liver-dysfunction-dysmorphic-features-and-global-developmental-delay
#1
Marie Morimoto, Helen Waller-Evans, Zineb Ammous, Xiaofei Song, Kevin A Strauss, Davut Pehlivan, Claudia Gonzaga-Jauregui, Erik G Puffenberger, Charles R Holst, Ender Karaca, Karlla W Brigatti, Emily Maguire, Zeynep H Coban-Akdemir, Akiko Amagata, C Christopher Lau, Xenia Chepa-Lotrea, Ellen Macnamara, Tulay Tos, Sedat Isikay, Michele Nehrebecky, John D Overton, Matthew Klein, Thomas C Markello, Jennifer E Posey, David R Adams, Emyr Lloyd-Evans, James R Lupski, William A Gahl, May Christine V Malicdan
Ca2+ signaling is vital for various cellular processes including synaptic vesicle exocytosis, muscle contraction, regulation of secretion, gene transcription, and cellular proliferation. The endoplasmic reticulum (ER) is the largest intracellular Ca2+ store, and dysregulation of ER Ca2+ signaling and homeostasis contributes to the pathogenesis of various complex disorders and Mendelian disease traits. We describe four unrelated individuals with a complex multisystem disorder characterized by woolly hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay...
November 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30140426/dysregulation-of-the-calcium-handling-protein-ccdc47-is-associated-with-diabetic-cardiomyopathy
#2
Khampaseuth Thapa, Kai Connie Wu, Aishwarya Sarma, Eric M Grund, Angela Szeto, Armando J Mendez, Stephane Gesta, Vivek K Vishnudas, Niven R Narain, Rangaprasad Sarangarajan
Background: Diabetes mellitus is associated with an increased risk in diabetic cardiomyopathy (DCM) that is distinctly not attributed to co-morbidities with other vasculature diseases. To date, while dysregulation of calcium handling is a key hallmark in cardiomyopathy, studies have been inconsistent in the types of alterations involved. In this study human cardiomyocytes were exposed to an environmental nutritional perturbation of high glucose, fatty acids, and l-carnitine to model DCM and iTRAQ-coupled LC-MS/MS proteomic analysis was used to capture proteins affected by the perturbation...
2018: Cell & Bioscience
https://www.readbyqxmd.com/read/28974366/human-ccdc47-sandwich-immunoassay-development-with-electrochemiluminescence-technology
#3
Wenfang S Wu, Liang Zhu, Saurabh Patil, Karthiga Gokul, Sean Reilly, Joyce Chan, Poornima Tekumalla, Vivek Vishnudas, Michael A Kiebish, Rangaprasad Sarangarajan, Viatcheslav R Akmaev, Mark D Kellogg, Niven R Narain
Coiled-Coil Domain Containing 47 (CCDC47) is an endoplasmic reticulum (ER) transmembrane protein involved in calcium signaling through utilization of its calcium binding-acidic luminal domain. CCDC47 also interacts with ERAD (endoplasmic reticulum-associated degradation) complex and is involved in ER stress relief. In this report, we developed human CCDC47 monoclonal antibodies and a sandwich immunoassay for CCDC47 measurement in biological matrices. Specificity of developed antibodies were confirmed by immunoblot and liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis of immunoprecipitated cell lysates...
January 2018: Journal of Immunological Methods
https://www.readbyqxmd.com/read/24582973/genome-wide-dna-methylation-profiling-for-epigenetic-alteration-in-coronary-artery-disease-patients
#4
Priyanka Sharma, Gaurav Garg, Arun Kumar, Farhan Mohammad, Sudha Ramesh Kumar, Vinay Singh Tanwar, Satish Sati, Abhay Sharma, Ganesan Karthikeyan, Vani Brahmachari, Shantanu Sengupta
BACKGROUND: The alteration in the epigenome forms an interface between the genotype and the environment. Epigenetic alteration is expected to make a significant contribution to the development of cardiovascular disease where environmental interactions play a key role in disease progression. We had previously shown that global DNA hypermethylation per se is associated with coronary artery disease (CAD) and is further accentuated by high levels of homocysteine, a thiol amino acid which is an independent risk factor for cardiovascular disease and is also a key modulator of macromolecular methylation...
May 10, 2014: Gene
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