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    The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey
    (Nature Publishing Group, 2015) Ozanturk, Aysegul; Marshall, Jan D.; Collin, Gayle B.; Duzenli, Selma; Marshall, Robert P.; Candan, Sukru; Tos, Tulay
    Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.
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    Polymorphisms in the IL28B gene (rs12979860, rs8099917) and the virological response to pegylated interferon therapy in hepatitis D virus patients
    (Univ Catholique Louvain-Ucl, 2016) Yilmaz, Bulent; Can, Guray; Ucmak, Feyzullah; Arslan, Ali Osman; Solmaz, Ihsan; Unlu, Ozan; Duzenli, Selma
    Aim : Few data are available regarding the effects of interleukin 28B (IL28B) polymorphisms in chronic hepatitis D (CHD) patients. This study investigated the relationship between IL28B polymorphisms and the response of patients with CHD infections to pegylated interferon (PEG-IFN) therapy. Materials and methods : A total of 101 CHD patients were selected, 80 of whom (46 males; median age 41 years) satisfied the inclusion criteria and were enrolled in the study. Thirty-seven patients were treated with peg-IFNa for at least 12 months and were followed for a median of 18 months (range, 12-30 months). The primary treatment endpoint was the suppression of HDV replication, as documented by the loss of detectable HDV RNA in serum. Geno-typing was used to analyse the IL28B polymorphisms rs12979860 and rs8099917 according to the virological response. Results : After treatment, a sustained viral response (SVR) was achieved in 19 (51%) of the patients treated with PEG-INF. The IL28B genotypes in the 80 patients were as follows : CC in 36 (45%), CT in 33 (41%) and TT in 11 (14%) for rs12979860, and GG in 4 (5%), GT in 27 (34%) and TT in 49 (61%) for rs8099917. SVR was achieved in 5 (26%), 10 (53%) and 4 (21%) patients with CC, CT and TT at rs12979860, respectively, and one (5%), nine (47%) and nine (47%) patients with GG, GT and TT at rs8099917, respectively. There were differences in the SVR among genotypes (rs12979860 and rs8099917; chi-squared test, p = 0.047). Conclusion : IL28B predicts the PEG-IFN response in patients with CHD infection.