Browsing by Author "Karaca, Ender"
Now showing items 1-4 of 4
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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 ... -
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Isikay, Sedat; Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holge; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter (NATURE PUBLISHING GROUP, 2019-02-12)Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological ... -
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 ...
