A5010581852- Cardiovascular Effects of Exercise
- Neurogenetic and Muscular Disorders Research
- CRISPR and Genetic Engineering
- Genomics and Phylogenetic Studies
- Skin and Cellular Biology Research
- Sexual Differentiation and Disorders
- Glycosylation and Glycoproteins Research
- Chromosomal and Genetic Variations
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Sperm and Testicular Function
- Advanced biosensing and bioanalysis techniques
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
Boğaziçi University
2014-2022
Center for Human Genetics
2016
University Hospital Cologne
2016
Istanbul University
2016
Children's National
2016
University of Cologne
2016
<h3>Background</h3> Azoospermia is the absence of a measurable level spermatozoa in semen. It affects approximately 1% all men, and genetic basis majority idiopathic cases unknown. We investigated two unrelated consanguineous families with azoospermia. In family 1, there were three azoospermic brothers one oligozoospermic brother; 2, brothers. Testis biopsy 2 had led to diagnosis maturation arrest spermatid stage. <h3>Methods</h3> Candidate disease loci found via linkage mapping using data...
SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder glycosylation, and mutations have been reported in 15 children. All the are recessive truncating.We present 2 brothers at age 38 40 years with an initial diagnosis cerebellar ataxia. We found candidate disease loci via linkage analysis using data from single nucleotide polymorphism genome scans homozygous truncating mutation p.W19X, which was previously 3 unrelated children, by exome sequencing.Clinical investigations...
To assess the clinical, genetic, and myopathologic findings in 2 cousins with lack of desmin, response to salbutamol one patient, neuromuscular endplate pathology a knock-in mouse model for recessive desminopathy.We performed clinical investigations patients, genetic studies linkage mapping, exome sequencing, qPCR transcript quantification, assessment efficacy (3-month oral) administration by muscle strength assessment, 6-minute walking test (6MWT), forced vital capacity, analysis homozygous...
CRISPR/Cas9 is a popular genome editing technology. Although widely used, little known about how this prokaryotic system behaves in humans. An unwanted consequence of eukaryotic Cas9 expression off-target DNA binding leading to mutagenesis. Safer clinical implementation necessitates finer understanding the regulatory mechanisms governing behavior Here, we report our discovery sumoylation and ubiquitylation, first post-translational modifications be described on enzyme. We found that major...