Browsing by Author "Posey, Jennifer E."
Now showing items 1-3 of 3
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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 ... -
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
Marafi, Dana; Mitani, Tadahiro; Işıkay, Şedat; Hertecant, Jozef L.; Almannai, Mohammed; Manickam, Kandamurugu; Abou-Jamra, Rami; El-Hattab, Ayman W.; Rajah, Jaishen; Fatih, Jawid M.; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill Anne; Jhangiani, Shalini N.; Boerwinkle, Eric; Akdemir, Zeynep Coban; Erdin, Serkan; Hunter, Jill Vanessa; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R. (Wiley-Blackwell, 1 May 2020)Objective: Defects in ion channels and neurotransmitter receptors are implicated in developmental and epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G-protein-coupled ... -
Phenotypic expansion illuminates multilocus pathogenic variation
Isikay, Sedat; Karaca, Ender; Posey, Jennifer E.; Akdemir, Zeynep Coban; Pehlivan, Davut; Harel, Tamar; Jhangiani, Shalini N.; Bayram, Yavuz; Song, Xiaofei; Bahrambeigi, Vahid; Yuregir, Ozge Ozalp; Bozdogan, Sevcan; Yesil, Gozde; Muzny, Donna; Gibbs, Richard A.; Lupski, James R. (NATURE PUBLISHING GROUP, 2018-12)Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend ...
