Ceren Damla Durmaz
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View article: A Cross-Sectional Study of CHEK2 Pathogenic Variants: Cancer Risk Spectrum and Clinical Insights
A Cross-Sectional Study of CHEK2 Pathogenic Variants: Cancer Risk Spectrum and Clinical Insights Open
Aims: CHEK2 is a tumor suppressor gene involved in DNA damage response and a moderate-risk gene for breast cancer. However, its role in other malignancies remains unclear, and the clinical impact of biallelic CHEK2 mutations is not well un…
View article: Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis
Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis Open
Background X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a hereditary neuropathy caused by mutations in the GJB1 gene encoding Connexin 32 (Cx32). Despite its X-linked dominant inheritance, it has been suggested that the variable …
View article: Cancer Immune Evasion and Immunotherapies: Progress and Challenges of CAR-T in Solid Tumors
Cancer Immune Evasion and Immunotherapies: Progress and Challenges of CAR-T in Solid Tumors Open
Solid tumors account for nearly 90% of the global cancer diagnoses, which is over 20 million annually, making them a central focus in the global fight against cancer. Specifically, by downregulating antigen presentation and reprogramming i…
View article: Konjenital Anomali ve/veya Nörogelişimsel Geriliği olan Çocukluk Çağındaki Türk Hastalarda Kromozomal Mikroarray Deneyimi: ASXL2 Gen Duplikasyonu ve Xq13 Delesyonunun İncelenmesi
Konjenital Anomali ve/veya Nörogelişimsel Geriliği olan Çocukluk Çağındaki Türk Hastalarda Kromozomal Mikroarray Deneyimi: ASXL2 Gen Duplikasyonu ve Xq13 Delesyonunun İncelenmesi Open
Giriş/Amaç: Entelektüel gerilik, gelişme geriliği, otistik spektrum bozukluğu ve çoklu konjenital anomalili hastalarda mikroarray analizi, ilk önerilen testtir. Nörogelişimsel geriliği olan Türk hastalarda mikroarray analizinin tanı koyma …
View article: Hyperhomocysteinemia, Hyperlipidemia and Retina
Hyperhomocysteinemia, Hyperlipidemia and Retina Open
Hyperhomocysteinemia is a disease with an increase in the plasma level of homocysteine, an intermediate of methionine metabolism, and predisposes to thrombosis. It is a well-established risk factor for occlusive cardiovascular illnesses an…
View article: Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia
Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia Open
Our findings suggest that rare variants of RASD1 might be contributing to the etiopathogenesis of schizophrenia. Further studies are needed to elucidate the underlying mechanism of this association.
View article: FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature Open
Introduction: FBLN5-related cutis laxa is a very rare, autosomal recessive syndrome that is characterized by loose, wrinkled, and redundant skin, sagging cheeks, emphysema, aortic or pulmonary artery abnormalities, inguinal hernia, and div…
View article: Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey Open
BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at …
View article: A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita
A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita Open
View article: Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene Open
A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hyp…
View article: 多发性化脓性汗腺炎患者 pyrin 突变
多发性化脓性汗腺炎患者 pyrin 突变 Open
化脓性汗腺炎(HS)是一种炎性皮肤病, 在全世界约有1%HS患者。HS可使患者生活质量严重下降, 使腋窝和臀部等有毛发的部位出现慢性疼痛病变 (小块受累区域)。本次研究由土耳其和德国的科学家进行, 旨在分析 MEFV 基因在HS 中的作用, 研究使用了 119名HS患者。研究者确认了一些与多发性HS(例如, 出现更严重HS及其他炎性疾病的患者[如严重痤疮、关节炎或家族性地中海热 (FMF, 由MEFV基因突变引起)] ) 相关的临床特征 (如严重度、是否患有其他疾病)。患者…
View article: Pyrin mutations in complex hidradenitis suppurativa
Pyrin mutations in complex hidradenitis suppurativa Open
View article: Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel <b><i>SLCO2A1</i></b> Mutation and Imaging Findings
Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel <b><i>SLCO2A1</i></b> Mutation and Imaging Findings Open
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiog…
View article: WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome Open
View article: Bilateral choanal atresia in an adult woman with pycnodysostosis
Bilateral choanal atresia in an adult woman with pycnodysostosis Open
Pycnodysostosis (PYCD, OMIM: 265800) is an uncommon, autosomal recessive condition, first described by Maroteaux and Lamy in 1962 (Maroteaux and Lamy 1962). PYCD is also known as Toulouse-Lautrec disease, after the French artist Henri de T…
View article: Supplementary Material for: Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report
Supplementary Material for: Unusual Chromosomal Rearrangement Resulted in Interstitial Monosomy 9p: Case Report Open
We report on a 4.5-year-old boy with interstitial monosomy 9p in a unique and complex de novo rearrangement. The patient had been referred for craniofacial dysmorphism, delayed psychomotor development, and various congenital malformations.…