Person: YEŞİL, GÖZDE
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Publication Parents of ataxia-telangiectasia patients display a distinct cellular immune phenotype mimickingATM-mutated patients(2020-10-01T00:00:00Z) ÖĞÜLÜR, İSMAİL; Ertuzun, Tugce; KOCAMIŞ, BURCU; Kendir Demirkol, Yasemin; Uyar, Emel; KIYKIM, Ayça; Baser, Dilek; YEŞİL, Gözde; Akturk, Hacer; Somer, Ayper; Ozen, Ahmet; Karakoc-Aydiner, Elif; MÜFTÜOĞLU, Meltem; BARIŞ, SAFA; YEŞİL, GÖZDEBackground Heterozygous relatives of ataxia-telangiectasia (AT) patients are at an increased risk for certain AT-related manifestations. We also show that there is an increase of infection frequency in parents of AT patients. Thus, we hypothesized that the parents might exhibit immune alterations similar to their affected children. Methods Lymphocyte phenotyping to enumerate T- and B-cell subsets was performed. Functional analyses included in vitro quantified gamma-H2AX, poly (ADP-ribose) polymerase (PARP) and caspase-9 proteins. Chromosomal instability was determined by comet assay. Results We analyzed 20 AT patients (14F/6M), 31 parents (16F/15M), and 35 age-matched healthy controls. The AT patients- parents exhibited low frequency of naive CD4(+)T- (n = 14, 45%) and recent thymic emigrants (n = 11, 35%) in comparison with the age-matched healthy donors. Interestingly, parents with low naive T cells also demonstrated high rate of recurrent infections (9/14, 64%). In comparison with age-matched controls, parents who had recurrent infections and low naive T cells showed significantly higher baseline gamma-H2AX levels and H2O2-induced DNA damage as well as increased cleaved caspase-9 and PARP proteins. Conclusion Parents of AT patients could present with recurrent infections and display cellular defects that mimic AT patients. The observed immunological changes could be associated with increased DNA double-strand breaks.Publication Follow up four cerebrotendinous xanthomatosis patients importance of early diagnosis and treatment.(2017-05-30) DUMAN, NİLGÜN; AKYÜZ, ENES; GEÇKİNLİ, BİLGEN BİLGE; ZUBARİOĞLU, T; YEŞİL, GÖZDE; DUMAN, NİLGÜN; AKYÜZ, ENES; YEŞİL, GÖZDEPublication Yeni mutasyon tespit edilen Sandhof Hastalığı vakası(2017-04-30) CESUR, YAŞAR; TAŞ, İBRAHİM; YEŞİL, GÖZDE; İŞCAN, AKIN; CESUR, YAŞAR; TAŞ, İBRAHİM; YEŞİL, GÖZDE; İŞCAN, AKINPublication Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1(2018-01-01) Gunes, Nilay; YEŞİL, GÖZDE; Beng, Kubilay; Kahraman, Sinan; Tuysuz, Beyhan; YEŞİL, GÖZDEDysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular bones, and progressive kyphoscoliosis. Although the COL2A1 gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the COL2A1 gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we report 2 novel heterozygous mutations in COL2A1 in 2 patients with DSC. They had prenatal onset short stature with unequal limb length and generalized enchondroma-like lesions in metaphyseal and diaphyseal parts of the long tubular bones, and osteopenia. The first patient was diagnosed at 3 months of age and followed for 10.5 years. Severe lumbosacral scoliosis and recurrent fractures were observed. The second patient was diagnosed at the age of 4 years. Mild deterioration in scoliosis was observed during the 3-year-long follow-up period. However, skeletal radiography of both patients showed the improvement of enchondromatous lesions. In conclusion, we verified that the COL2A1 gene mutations are responsible for the DSC phenotype. We observed severe osteopenia and fractures which were not reported previouslyPublication An 18 Month Old Boy with Hypoglycemic Convulsion and Obesity Due to POMC Deficiency(2018-01-01) KAYGUSUZ, SARE BETÜL; YEŞİL, GÖZDE; KIRKGÖZ, TARIK; Turan, Serap; BEREKET, ABDULLAH; GÜRAN, TÜLAY; YEŞİL, GÖZDEPublication Report of a Patient With Temple-Baraitser Syndrome(2014-03-01) YEŞİL, GÖZDE; Guler, Serhat; Yuksel, Adnan; ALANAY, Yasemin; YEŞİL, GÖZDEPublication A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood(2017-10-01) YILDIZ, Edibe Pembegul; YEŞİL, GÖZDE; OZKAN, Melis Ulak; BEKTAS, Gonca; CALISKAN, Mine; OZMEN, Meral; YEŞİL, GÖZDEPublication Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes(2015-02-01T00:00:00Z) Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V. Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R.; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Ha Lid; Alnaqeb, Dhekra; Alshammari, Muneera J.; Bayram, Yavuz; Atik, Mehmed M.; Aydin, Hatip; Geckinli, B. Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M.; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S.; Gibbs, Richard A.; Lupski, James R.; YEŞİL, GÖZDECornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de nova heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be -transcriptomopathies- rather than cohesinopathies.Publication Pseudohypoparathyroidism Type Ia with Normocalcemia(2019-04-01T00:00:00Z) Kutlu, Esra; CESUR, Yaşar; ÖZGEN, İLKER TOLGA; Yesil, Gozde; KUTLU, ESRA; ÖZGEN, İLKER TOLGA; CESUR, YAŞAR; YEŞİL, GÖZDEPseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.Publication Change of ST segment in ECG recording and its relation with potassium channels in experimental epilepsy model induced in rats(2017-03-03) AKYÜZ, ENES; MEGA TİBER, PINAR; YEŞİL, GÖZDE; AKYÜZ, ENES; YEŞİL, GÖZDE