A5041286348- Sexual Differentiation and Disorders
- Hormonal Regulation and Hypertension
- Hormonal and reproductive studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Adrenal and Paraganglionic Tumors
- Adrenal Hormones and Disorders
- Renal and related cancers
- Biotechnology and Related Fields
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- Pediatric Urology and Nephrology Studies
- Chromosomal and Genetic Variations
- RNA Research and Splicing
- Iron Metabolism and Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Erythrocyte Function and Pathophysiology
- Testicular diseases and treatments
- Congenital heart defects research
- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Hemoglobinopathies and Related Disorders
National Nuclear Research Center
2021-2022
Istanbul University
2019-2022
Context Most of the knowledge on factors involved in human sexual development stems from studies rare cases with disorders sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants PPP2R3C gene. This gene encodes B″gamma regulatory subunit protein phosphatase 2A (PP2A), which is serine/threonine phospho-regulation processes most mammalian cell types. abundantly expressed testis humans, while its function was hitherto unknown....
Fanconi anemia (FA) is a rare multigenic chromosomal instability syndrome that predisposes patients to life-threatening bone marrow failure, congenital malformations, and cancer. Functional loss of interstrand cross-link (ICL) DNA repair system held responsible, though the mechanism not yet fully understood. The clinical molecular findings 20 distinct FA cases, ages ranging from perinatal stage 32 years, are presented here. Pathogenic variants in FANCA were found responsible 75%, FANCC,...
Abstract Background Aldosterone synthase deficiency (ASD) caused by mutations in the CYP11B2 gene is characterized isolated mineralocorticoid deficiency. Data are scarce regarding clinical and biochemical outcomes of disease follow-up. Objective Assessment growth steroid profiles patients with ASD at time diagnosis after discontinuation treatment. Design method Children were included a multicenter study. Growth treatment characteristics recorded. Plasma adrenal steroids measured using liquid...
What is already known on this topic?Androgen insensivity syndrome and 5α-reductase deficiency are the most common causes of 46,XY disorders sexual development.They can present as indistinguishable phenotypes that usually necessitate molecular analyses for definitive diagnosis in prepubertal period. study adds?Testosterone to dihydrotestosterone ratio may lead diagnostic confusion.Genetic analysis actual seems be essential.Four novel androgen receptor variants were identified Turkish...
What is already known on this topic?Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) are the most common reasons of 46,XY disorders sexual development (DSD).They can present indistinguishable phenotypes that usually necessitate molecular analyses for definitive diagnosis in prepubertal period. study adds?T/DHT ratio may lead to diagnostic confusion.Genetic analysis actual seems be essential.Four novel AR variants were identified our study.
Sequence variants are usually silent and rarer in α-globin, some may lead to an unstable protein with hemolytic or thalassemic phenotype. The most common HBA variant is ConstantSpring which leading elongated chain. Others be due ins/del the one of them Hb-Taybe caused deletion Thr residue at codon 40 HBA1. We report, for first time, 2 cases anemia presence trans HBA2 poly-A mutations. Patients were managed Thalassemia Unit National Hematology Center. Detailed pedigrees drawn, medical...