A5037521837- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Renal Diseases and Glomerulopathies
- Platelet Disorders and Treatments
- Electrolyte and hormonal disorders
- Ion Transport and Channel Regulation
- Cell Adhesion Molecules Research
- Hormonal Regulation and Hypertension
- Genetic factors in colorectal cancer
- Connective tissue disorders research
- Developmental Biology and Gene Regulation
- Mitochondrial Function and Pathology
- Prenatal Screening and Diagnostics
- Pediatric health and respiratory diseases
- Adenosine and Purinergic Signaling
- Macrophage Migration Inhibitory Factor
- Erythrocyte Function and Pathophysiology
- Chronic Kidney Disease and Diabetes
- Gastroesophageal reflux and treatments
- Vascular Tumors and Angiosarcomas
- Coenzyme Q10 studies and effects
- Cancer, Hypoxia, and Metabolism
- ATP Synthase and ATPases Research
- Immune Cell Function and Interaction
- Soft tissue tumor case studies
Hacettepe University
2018-2023
Reprogenetics
2019
ADCK4-related glomerulopathy is a recently recognized clinical entity associated with insidious onset in young children and high potential to progress chronic kidney disease adolescents. Early initiation of exogenous coenzyme Q10 (CoQ10) supplementation the asymptomatic period could be protective on renal functions. In present study, we aimed investigate long-term follow-up patients that have diagnosed during whom started CoQ10 treatment. We analyzed effects proteinuria estimated glomerular...
Recessive mutations in the genes encoding four subunits of tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms pontocerebellar hypoplasia, a disorder characterized by hypoplasia cerebellum pons, microcephaly, dysmorphisms, other variable clinical features. Here, we report an intronic recessive founder variant gene TSEN2 that results abnormal mRNA this gene, six individuals from consanguineous families affected with multiple craniofacial malformations,...
<b><i>Introduction:</i></b> Autosomal recessive polycystic kidney disease (ARPKD) is associated with pathogenic variants in the <i>PKHD1</i> gene. dominant (ADPKD) mainly <i>PKD1</i> or <i>PKD2</i>. The present study aimed to identify clinical and genetic features of Turkish pediatric ARPKD ADPKD patients. <b><i>Methods:</i></b> This multicenter, retrospective cohort included 21 genetically confirmed 48...
Congenital anomalies of the kidney and urinary tract (CAKUT) is leading cause end-stage disease in children. Until now, more than 50 monogenic causes for CAKUT have been described, all which only explain 10% to 20% patients with CAKUT, suggesting presence additional genes that when mutated. Herein, we report two siblings a consanguineous family both rapidly progressed chronic early childhood. Whole-exome sequencing followed by homozygosity mapping identified homozygous variation HOXA11. We...
Background. Alport syndrome (AS) is characterized by progressive kidney disease. There increasing evidence that renin-angiotensin-aldosterone system (RAAS) inhibition delays chronic disease (CKD) while the effectiveness of immunosuppressive (IS) therapy in AS still uncertain. In this study, we aimed to analyze outcomes pediatric patients with X-linked (XLAS) who received RAAS inhibitors and IS therapy. Methods. Seventy-four children XLAS were included multicenter study. Demographic features,...
Background. Atypical hemolytic uremic syndrome (aHUS) occurs due to defective regulation of the alternative complement pathway (ACP) on vascular endothelial cells. Plasma based therapy (PT) was mainstay treatment for aHUS many years until introduction therapies targeting blockage system. The aim this study evaluate patients with who had been treated plasma alone. Methods. outcomes seven genetically confirmed (2 girls, 5 males) were evaluated by means clinical presentation, response therapy,...
Abstract Background and Aims Alport syndrome (AS) is an inherited glomerular basement membrane disease caused by mutations in COL4A3, COL4A4 or COL4A5 genes. Recently, it has been reported that focal segmental glomerulosclerosis (FSGS) can be seen AS COL4A detected FSGS. In this study, we aimed to define the clinical characteristics of patients with genetically confirmed AS, order establish genotype-phenotype correlation investigate effects different treatment regimes. Method A total 87...
Abstract Background and Aims Cystic kidney diseases are a heterogeneous group of chronic renal disease. Autosomal recessive polycystic disease (ARPKD) is generally diagnosed in utero or at birth due to mutations PKHD1 gene. dominant (ADPKD) the most common inherited commonly associated with PKD1 PKD2. In this study, we aimed investigate clinical genetic features ARPKD ADPKD Turkish patients. Method A total 69 children genetically confirmed (10 females, 11 males) (28 20 from seven pediatric...