Yazar "Caglayan, Ahmet Okay" için listeleme
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ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features
Caglayan, Ahmet Okay; Sezer, Rabia Gonul; Kaymakcalan, Hande; Ulgen, Ege; Yavuz, Taner; Baranoski, Jacob F.; Gunel, Murat (COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2017)Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease ... -
Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer, Ashleigh E.; Breuss, Martin W.; Caglayan, Ahmet Okay; Al-Sanaa, Nouriya; Al-Abdulwahed, Hind Y.; Kaymakcalan, Hande; Gleeson, Joseph G. (NATURE PUBLISHING GROUP, 2018)Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding alpha N-catenin, in patients with a ... -
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
Per, Huseyin; Canpolat, Mehmet; Bayram, Ayse Kacar; Ulgen, Ege; Baran, Burcin; Kardas, Fatih; Caglayan, Ahmet Okay (GEORG THIEME VERLAG KG, 2015)Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene, which results in a decrease in plasma high-density ... -
Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population
Kornilov, Sergey A.; Rakhlin, Natalia; Koposov, Roman; Lee, Maria; Yrigollen, Carolyn; Caglayan, Ahmet Okay; Grigorenko, Elena L. (AMER ACAD PEDIATRICS, 2016)BACKGROUND AND OBJECTIVE: Developmental language disorder (DLD) is a highly prevalent neurodevelopmental disorder associated with negative outcomes in different domains; the etiology of DLD is unknown. To investigate the ... -
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
Rad, Abolfazl; Altunoglu, Umut; Miller, Rebecca; Maroofian, Reza; James, Kiely N.; Caglayan, Ahmet Okay; Schmidts, Miriam (BMJ PUBLISHING GROUP, 2019)Background Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, ...