A5028098270- Congenital heart defects research
- Connective tissue disorders research
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Turkish Literature and Culture
- Second Language Learning and Teaching
- Helicobacter pylori-related gastroenterology studies
- Esophageal and GI Pathology
- Cultural and Sociopolitical Studies
- Retinal Development and Disorders
- Glycosylation and Glycoproteins Research
- Blood disorders and treatments
- Erythrocyte Function and Pathophysiology
- Connexins and lens biology
- Fibroblast Growth Factor Research
- Acute Myeloid Leukemia Research
- Digestive system and related health
- Lysosomal Storage Disorders Research
- Cancer Genomics and Diagnostics
- Congenital Heart Disease Studies
- Educational Methods and Analysis
- Genomic variations and chromosomal abnormalities
- Immunodeficiency and Autoimmune Disorders
- Galectins and Cancer Biology
Marmara University
2021-2025
This study aims to determine the genotypic characteristics of Hereditary Spherocytosis (HS) patients in Turkiye and examine correlation between genotype phenotype.
ABSTRACT Nance–Horan Syndrome (NHS) is an ultra‐rare syndrome characterized by facial dysmorphism, teeth, and eye abnormalities. Pathogenic variants in NHS are responsible for NHS. Herein, we report four Turkish patients from two unrelated families having dysmorphic features, congenital bilateral cataracts, dental anomalies. Molecular studies revealed novel hemizygous (c.136_137del; p.Leu46Glyfs*136 c.2690del; p.Thr897Serfs*19) the inherited their mothers. In family 1, mother her children...
Myhre syndrome (MS; OMIM #139210) is a rare connective tissue disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal system findings. Fewer than 100 patients were reported until recently, all molecularly confirmed cases had de novo heterozygous gain-of-function mutations in the SMAD4 gene. Dysregulation of TGF-beta signaling pathway leads to axial appendicular skeleton, tissue, cardiovascular system, central nervous abnormalities.Two siblings, 12 9 years old,...
Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated #608456) are rare cancerprone disorders characterized by hundreds of polyps in the colon rectum, which have a high probability malignant transformation. Attenuated familial is variant polyposis, term used for condition patients less than 100 colorectal polyps. Germline heterozygous Adenomatous coli (APC) biallelic MUTYH (mutY DNA glycosylase) pathogenic variations responsible respectively. The aim this study to discuss...
Introduction: Feingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and intellectual disability. Until now, 22 patients have been reported in the literature. FGLDS2 caused a germline heterozygous deletion of 13q resulting haploinsufficiency MIR17HG gene. Case report: In present study, we evaluated clinical, radiological, analyses 10-year-old Turkish-origin girl with brachydactyly, disability, hematuria,...
Sch mke Immuno-Osseous Dysplas a (SIOD) (MIM:242900) s an ultra-rare autosomal recess ve pan-ethn c ple otrop d sease.Typ cal f nd ngs of th syndrome are stero d-res stant nephrot syndrome, cellular mmunodef ency and spondyloep physeal dysplas fac al dysmorph sm.B allel var ants n the SMARCAL1 gene cause SIOD.The ve-and-half-year-old female pat ent was evaluated because short stature, sm, hypercalcem a, hypophosphatem elevated FSH levels.Karyotype analys array-CGH test ng were normal.Cl...
Introduction: In ALL, TP53 mutations (TP53mut) are increased at relapse and associated with poor prognosis resistance. APR-246 binds to mutant p53 restoring wt conformation.
Topic: 33. Bleeding disorders (congenital and acquired) Background: RUNX1 is a transcription factor that important for hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) characterized by mild moderate thrombocytopenia leading prolonged bleeding time increased risk of developing Myelodysplastic Syndrome (MDS), Acute Myeloid Leukemia (AML) or T cell Lymphoblastic (T-ALL). Aims: Herein we discussed germline mutation in Turkish family an...