Zobrazeno 1 - 10
of 13
pro vyhledávání: '"R. Köksal Özgül"'
Autor:
Luz Jubierre Zapater, Elias Rodriguez-Fos, Merce Planas-Felix, Sara Lewis, Daniel Cameron, Phillip Demarest, Anika Nabila, Junfei Zhao, Paul Bergin, Casie Reed, Makiko Yamada, Alex Pagnozzi, Caroline Nava, Emilie Bourel-Ponchel, Derek E. Neilson, Ali Dursun, R. Köksal Özgül, Halil Tuna Akar, Nicholas D. Socci, Matthew Hayes, Raul Rabadan, David Torrents, Michael C. Kruer, Miklos Toth, Alex Kentsis
Publikováno v:
bioRxiv
DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved vertebrate DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ba22cd5c3cd079c9b6a265c1e9a981
https://doi.org/10.1101/2023.04.28.538770
https://doi.org/10.1101/2023.04.28.538770
Publikováno v:
Türkiye Çocuk Hastalıkları Dergisi
Turkish Journal of Pediatric Disease
Turkish Journal of Pediatric Disease
Biyotinidaz eksikliği, nadir görülen otozomal çekinik olarak kalıtılan bir hastalıktır. Erken yenidoğan döneminde tedavi edilmezse ciddi nörolojik kusurlara, metabolik bozukluklara, komaya ve ölüme neden olabilir. Yenidoğanlarda biyotin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae4aa3c36a7103e8da37e1c6ce78ce27
https://dergipark.org.tr/tr/pub/tchd/issue/43771/1082479
https://dergipark.org.tr/tr/pub/tchd/issue/43771/1082479
Publikováno v:
Clinical chemistry. 67(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dbe05db084cc5f7a3c8ddc5540c4fdb
https://pubmed.ncbi.nlm.nih.gov/34597372
https://pubmed.ncbi.nlm.nih.gov/34597372
Autor:
Yilmaz Yildiz, Can Kosukcu, Kader Karli Oguz, Ceren Günbey, Neşe Vardar Acar, Dilek Yalnizoglu, Ali Dursun, Halil Tuna Akar, Basri Gülbakan, Didem Yücel Yılmaz, R. Köksal Özgül, Ayça Burcu Kahraman
Publikováno v:
European Journal of Medical Genetics. 64:104340
ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48d0ea050afd4ce2ebe34a16e53d97e
https://doi.org/10.1016/j.ejmg.2021.104340
https://doi.org/10.1016/j.ejmg.2021.104340
Autor:
Yilmaz Yildiz, Didem Yücel Yılmaz, Ayşegül Tokatlı, H. Serap Sivri, Emine Pektas, Kısmet Çıkı, R. Köksal Özgül, Ali Dursun
Publikováno v:
Metabolic Brain Disease. 36:1411-1411
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31eaac4829cdb90042a5f60b7cd5c0a4
https://doi.org/10.1007/s11011-021-00759-8
https://doi.org/10.1007/s11011-021-00759-8
Autor:
Alev Ozon, Nurgun Kandemir, Ali Dursun, R. Köksal Özgül, Didem Yücel Yılmaz, E. Nazli Gonc, Ayfer Alikasifoglu
Publikováno v:
The Journal of Steroid Biochemistry and Molecular Biology. 165:57-63
11β-Hydroxylase deficiency is the second most frequent type of congenital adrenal hyperplasia and is more common in those of Turkish descent than in other populations. The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b11b4064964a7760696aa2d5b4713fe
https://doi.org/10.1016/j.jsbmb.2016.03.006
https://doi.org/10.1016/j.jsbmb.2016.03.006
Autor:
Ilknur Erol, Buǧra Özer, Kader K. Oǧuz, Dilek Yalnızoǧlu, Berrak Bilginer Gürbüz, Meral Topçu, R. Köksal Özgül, Didem Yücel-Yılmaz, Esra Serdaroǧlu, Ali Dursun
MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53adda4bb52448c17a655f8a418824e0
https://avesis.gazi.edu.tr/publication/details/1c6f0454-2dba-4f31-9a8e-b175aa4d77fb/oai
https://avesis.gazi.edu.tr/publication/details/1c6f0454-2dba-4f31-9a8e-b175aa4d77fb/oai
Autor:
Keith K. Vaux, Mahmut Şamil Sağıroğlu, Laila Bastaki, Seth J. Field, Pascale de Lonlay, Sawsan Abdel-Hadi, Lihadh Al-Gazali, Hülya Kayserili, Ali Dursun, Jeffrey D. Esko, Eric Scott, Xin Wang, Faezeh Mojahedi, Ashleigh E. Schaffer, R. Köksal Özgül, Iman G. Mahmoud, Isabelle Desguerre, Matthew D. Buschman, Laila Selim, Samia A. Temtamy, Jean-Laurent Casanova, Murat Gunel, Abdelrahim Abdrabou Sadek, Philip L.S.M. Gordts, Brett Copeland, Mona Aglan, Amira Masri, Maha S. Zaki, Joseph G. Gleeson, Matloob Azam, Naiara Akizu, Vincent Cantagrel, Antoinette Gelot, Basak Rosti, Jennifer L. Silhavy, Esra Dikoglu, Ulrich Müller, Amera El Badawy, Gennaro Napolitano, Stacey Gabriel, Rasim Ozgur Rosti, Jana Schroth, Samira Ismail, Ghada M H Abdel-Salam
Publikováno v:
Nature genetics, vol 47, iss 5
Nature genetics
Nature genetics
Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7fb536aeb87a30e2cdd2ae132af0ef
https://doi.org/10.1038/ng.3256
https://doi.org/10.1038/ng.3256
Publikováno v:
American Journal of Medical Genetics Part A. :2609-2611
Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e06680e86a9a6bbbabc4bba9e0671e6a
https://doi.org/10.1002/ajmg.a.33615
https://doi.org/10.1002/ajmg.a.33615
Autor:
R. Köksal Özgül, Jan D. Marshall, Mustafa Taşkesen, Ayşegül Güzel, Gayle B. Collin, Jürgen K. Naggert, Alexei V. Evsikov
Alstrom syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and rena
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6ab832ea857e40a3429ccfb0ad7ad5
https://europepmc.org/articles/PMC3264847/
https://europepmc.org/articles/PMC3264847/