Browsing by Author "Macnamara, Ellen"
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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
Isikay, Sedat; Morimoto, Marie; Waller-Evans, Helen; Ammous, Zineb; Song, Xiaofei; Strauss, Kevin A.; Pehlivan, Davut; Gonzaga-Jauregui, Claudia; Puffenberger, Erik G.; Holst, Charles R.; Karaca, Ender; Brigatti, Karlla W.; Maguire, Emily; Coban-Akdemir, Zeynep H.; Amagata, Akiko; Lau, C. Christopher; Chepa-Lotrea, Xenia; Macnamara, Ellen; Tos, Tulay; Nehrebecky, Michele; Overton, John D.; Klein, Matthew; Markello, Thomas C.; Posey, Jennifer E.; Adams, David R.; Lloyd-Evans, Emyr; Lupski, James R.; Gahl, William A.; Malicdan, May Christine V. (CELL PRESS, 2018-11-01)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 ...