Kurum Yazarı "Gümüş, Evren" PubMed İndeksli Yayınlar Koleksiyonu İçin Listeleme
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Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
Rasheed, A.; Gümüş, Evren; Zaki, M.; Johnson, K.; Manzoor, H.; Laforce, G.; Schaffer, A. (BMJ Publishing Group, 2020)Background: Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated ... -
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey
Gümüş, Evren; Tuncez, Ebru; Öz, Özlem; Güvenç, Merve Saka (Wiley, 2020)Background Bardet-Biedl syndrome (BBS) is a very-rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this ... -
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model
Ahn, Lucie Y.; Coatti, Giuliana C.; Liu, Jingyi; Gümüş, Evren; Schaffer, Ashleigh E.; Miranda, Helen C. (Wiley, 2020;00:1–)ACTL6B is a component of the neuronal BRG1/brm-associated factor (nBAF) complex, which is required for chromatin remodeling in postmitotic neurons. We recently reported biallelic pathogenic variants in ACTL6B in patients ... -
A Homozygous 1.16 Megabases Microdeletion at 8p22 Including The Whole TUSC3 in A Three Years Old Girl with Intellectual Disability and Speech Delay
Gümüş, Evren (Royan Inst, 2020)Intellectual disability (ID) is defined as an intelligence quotient (IQ) level below than 70. In the present paper, a 1.16 megabases (Mb) homozygous deletion in the 8p22 region was identified in a three years old girl with ... -
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 ... -
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
Dinçer, Tuba; Gümüş, Evren; Toraman, Bayram; İdris, Er; Yıldız, Gökhan; Yüksel, Zafer; Kalay, Ersan (Wiley, 2021)Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most ... -
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 ...