Yazar "0000-0002-2497-4630" için Dahili Tıp Bilimleri Bölümü Koleksiyonu listeleme
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A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
Gümüş, Evren; Wang, Ying; Hekimi, Siegfried (ELSEVIER, 2022)Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency ... -
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
Gümüş, Evren; Lima, Ariadne R.; Ferreira, Barbara M. (Wiley, 2022)Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different ... -
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration
LaForce, Geneva R.; Farr, Jordan S.; Gümüş, Evren (Cell Press, 2022)Tight regulation of mRNA isoform expression is essential for neuronal development, maintenance, and function; however, the repertoire of proteins that govern isoform composition and abundance remains incomplete. Here, we ...