Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Asli Subasioglu"'
Publikováno v:
Türk Nöroloji Dergisi, Vol 29, Iss 1, Pp 79-84 (2023)
Externí odkaz:
https://doaj.org/article/6c58092c32954851ae12e6d2795dd640
Autor:
Aslı Subaşıoğlu, Zeynep Gülsüm Güç, Emine Özlem Gür, Mustafa Agah Tekindal, Murat Kemal Atahan
Publikováno v:
European Journal of Breast Health, Vol 19, Iss 1, Pp 55-69 (2023)
Objective:The aim of this study was to determine the frequency of germline variants in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 in patients admitted to a medical genetics clinic with breast cancer and to assess these identified variants according to
Externí odkaz:
https://doaj.org/article/c43d342e939c4909b796a24d13cc4dc8
Autor:
Sonal Prasad, Barbara Vona, Marta Diñeiro, María Costales, Rocío González-Aguado, Ana Fontalba, Clara Diego-Pérez, Asli Subasioglu, Guney Bademci, Mustafa Tekin, Rubén Cabanillas, Juan Cadiñanos, Anders Fridberger
Publikováno v:
Communications Biology, Vol 3, Iss 1, Pp 1-15 (2020)
Sonal Prasad et al. identify several mutations in the radixin (RDX) gene that are associated with early-life hearing loss. Using a guinea pig model, they propose that radixin helps convert sound into electrical signals in the mature inner ear.
Externí odkaz:
https://doaj.org/article/9f723710dab14819bbce8cfbbae42554
Autor:
Kemal Ozyurt, Asli Subasioglu, Perihan Ozturk, Rahime Inci, Fuat Ozkan, Elena Bueno, Javier Cañueto, Rogelio González Sarmiento
Publikováno v:
Indian Journal of Dermatology, Vol 60, Iss 2, Pp 216-216 (2015)
Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones, and eyes. CDPX2 patients display skin defects, including ichthyotic lesions, folli
Externí odkaz:
https://doaj.org/article/e247622c0b6b417dbfd5be077d3e4fde
Autor:
Ali Serel, Tuğba Çetintepe, Şerife Solmaz, Asli Subasioglu, Kadriye Bahriye Payzin, Demet Kiper Ünal, Yeşim Ekşi Serel
Publikováno v:
LLM Dergi. 4:71-78
Autor:
Guney Bademci, Asli Subasioglu, María Costales, Rocío González-Aguado, Ana Fontalba, Anders Fridberger, Sonal Prasad, Juan Cadiñanos, Mustafa Tekin, Marta Diñeiro, Barbara Vona, Rubén Cabanillas, Clara Diego-Pérez
Publikováno v:
Communications Biology
Communications Biology, Vol 3, Iss 1, Pp 1-15 (2020)
Communications Biology, Vol 3, Iss 1, Pp 1-15 (2020)
The stereocilia of the inner ear sensory cells contain the actin-binding protein radixin, encoded by RDX. Radixin is important for hearing but remains functionally obscure. To determine how radixin influences hearing sensitivity, we used a custom rap
Autor:
Rocío González-Aguado, Ana Fontalba, Diego-Pérez C, Mustafa Tekin, Sonal Prasad, Anders Fridberger, Barbara Vona, Juan Cadiñanos, Asli Subasioglu, Marta Diñeiro, María Costales, Rubén Cabanillas, Guney Bademci
The stereocilia of the sensory cells in the inner ear contain high levels of the actin-binding protein radixin, encoded by the RDX gene. Radixin which is associated with mechanotransduction process such as PIP2 is known to be important for hearing bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a4bf3f5bd0708c779dfce407c772690
Publikováno v:
Multiple Sclerosis and Related Disorders. 55:103166
Background : Multiple sclerosis-related optic neuritis is mostly associated with good recovery. The aim of this study was to investigate the causes of progressive visual worsening in multiple sclerosis patients despite treatment. Methods : We retrosp
Autor:
Duygu Duman, R. Grace Zhai, Serhat Seyhan, Guney Bademci, Suna Tokgoz-Yilmaz, Asli Subasioglu, Timothy Gavin Mitchell, Susan H. Blanton, Chong Li, Clemer Abad, Yi Zhu, Oscar Diaz-Horta, Mustafa Tekin, Jiaqi Liu, Filiz Basak Cengiz, Katherina Walz, Amjad Farooq
We have identified a GRAP variant (c.311A>T; p.GIn104Leu) cose-gregating with autosomal recessive nonsyndromic deafness in two unrelated families. GRAP encodes a member of the highly conserved growth factor receptor-bound protein 2 (GRB2)/Sem-5/drk f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::794e66704d0a885f817a69bd7d8aa91b
https://avesis.gazi.edu.tr/publication/details/4f1ded1a-7d57-4885-af81-5155291597b1/oai
https://avesis.gazi.edu.tr/publication/details/4f1ded1a-7d57-4885-af81-5155291597b1/oai
Autor:
Rodrigo Vinueza, Duygu Duman, Nejat Mahdieh, Muzeyyen Yildirim-Baylan, María de la Luz Arenas-Sordo, Santiago Mendoza-Benitez, Atefeh Shirkavand, Fabiola Huesca-Hernandez, Germania Moreta, Paola Montenegro, Edgar Hernández-Zamora, Oscar Diaz-Horta, Nazim Bozan, Sirous Zeinali, Gonca Sennaroglu, Susan H. Blanton, Mustafa Tekin, Armagan Incesulu, Suna Tokgoz-Yilmaz, Mortaza Bonyadi, F. Basak Cengiz, Guney Bademci, Hatice Ozturkmen-Akay, Asli Subasioglu, Juan Dominguez-Aburto, Franklin Villegas, Joseph Foster, Tulay Tos, Ibis Menéndez, Shengru Guo, Rosario Paredes
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity with reported mutations in 58 different genes. This study was designed to detect deafness causing variants in a multiethnic cohort w