Výsledky vyhledávání - "Abdullah Uzumcu"

Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Möbius syndrome

Autor: Güven Toksoy, Memnune Yuksel-Apak, Abdullah Uzumcu, Sukru Candan, Burak Tatlı, Hülya Kayserili, Birsen Karaman, Z. Oya Uyguner, Adnan Yuksel, Hacer Eris, Seher Başaran, Bilge Geckinli

Publikováno v: Journal of Genetics and Genomics. 36:251-256

Mobius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18271e497010b3a0adf14cbedfaea728
https://doi.org/10.1016/s1673-8527(08)60112-5

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Mutations in different components of FGF signaling in LADD syndrome

Publikováno v: Nature Genetics, 38, 414-7
Nature Genetics, 38, 4, pp. 414-7

Contains fulltext : 50020.pdf (Publisher’s version ) (Closed access) Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We identified heterozygou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa08c74c2a7704c048909eedec55912c
https://doi.org/10.1038/ng1757

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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Autor: Robert J. Desnick, A. Gezer, Oya Uyguner, Memnune Yuksel-Apak, Abdullah Uzumcu, Peter Nürnberg, Turgut Tukel, Hans Christian Hennies, S. H. Gultekin, Bernd Wollnik, Hülya Kayserili

Publikováno v: Journal of Medical Genetics. 42:408-415

Background: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b3e1df70c18d5dc414257c7b868801a
https://doi.org/10.1136/jmg.2004.026138

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Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss

Autor: Günter Hafiz, Abdullah Uzumcu, M Emiroglu, A Ghanbari, Nermin Başerer, Oya Uyguner, Memnune Yuksel-Apak, Bernd Wollnik

Publikováno v: Clinical Genetics. 64:65-69

Mutations in genes encoding gap- and tight-junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2[connexin 26 (Cx26)] mutation spectrum in 60 index patients from mostly large Turkish families with a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::00f70918500cd3105971de7e8a618f59
https://doi.org/10.1034/j.1399-0004.2003.00101.x

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MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

Autor: Peter Nürnberg, Angelien Heister, Hans Christian Hennies, Hülya Kayserili, Cor W. R. J. Cremers, Günter Hafiz, Oya Uyguner, Hidayet Erdöl, Bernd Wollnik, Ersan Kalay, Abdullah Uzumcu, Elmar Krieger, Ahmet Karagüzel, Refik Caylan, Han G. Brunner, Nermin Başerer, Melike Ulubil-Emiroglu, Seher Başaran, Hannie Kremer

Publikováno v: American journal of medical genetics. Part A. (20)

Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5579829f7be7ae523619ea2ed2441517
https://pubmed.ncbi.nlm.nih.gov/17853461

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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos‐like syndrome

Autor: Bernd Wollnik, Oya Uyguner, Elizabeth E. Norgett, Nicholas J. Severs, S E Sahin, Emmanuel Dupont, Kemal Nisli, Memnune Yuksel-Apak, David P. Kelsell, Aygün Dindar, Hülya Kayserili, Irene M. Leigh, Abdullah Uzumcu

Publikováno v: Scopus-Elsevier

Background: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc5eddc4ab3ee677771ac0f5ae8399c0
https://europepmc.org/articles/PMC2564645/

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Catecholaminergic polymorphic ventricular tachycardia with structural heart disease is caused by a mutation in calsequestrin 2 that leads to increased spark-mediated calcium leak in cardiomyocytes

Autor: S Györke, ES Sahin, Bernd Wollnik, D Terentyev, A Belevych, Aygün Dindar, Kamil Adalet, R Terentyeva, Abdullah Uzumcu, Kemal Nisli, Ensar Yekeler, Oya Uyguner, S Vedamoorthyrao

Publikováno v: Journal of Electrocardiology. 40:S14

CAR-2 Catecholaminergic polymorphic ventricular tachycardia with structural heart disease is caused by a mutation in calsequestrin 2 that leads to increased spark-mediated calcium leak in cardiomyocytes Aygun Dindar, Oya Uyguner, ES Sahin, D Terentye

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca1cb1dd2561c0dcdc91e5b2e8fb8583
https://doi.org/10.1016/j.jelectrocard.2007.03.157

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