A5024359423- Genetics and Neurodevelopmental Disorders
- Muscle Physiology and Disorders
- Genomics and Rare Diseases
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Genetic Neurodegenerative Diseases
- Virus-based gene therapy research
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Legume Nitrogen Fixing Symbiosis
- RNA regulation and disease
- Microtubule and mitosis dynamics
- Congenital heart defects research
- Endoplasmic Reticulum Stress and Disease
- Neurological diseases and metabolism
- Genomics and Chromatin Dynamics
- Forensic and Genetic Research
- RNA Research and Splicing
- Autophagy in Disease and Therapy
- Genetic and Kidney Cyst Diseases
- Genetic diversity and population structure
- Connective tissue disorders research
- Hypertrophic osteoarthropathy and related conditions
- Cleft Lip and Palate Research
- Hedgehog Signaling Pathway Studies
Istanbul Technical University
2020-2023
Boğaziçi University
2012-2021
Center for Human Genetics
2016
University Hospital Cologne
2016
Istanbul University
2016
Children's National
2016
University of Cologne
2016
Fırat University
2008
Middle East Technical University
2001
University of Minnesota
1998
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal tract function. Although the genetic basis is partly understood, only a fraction cases can receive diagnosis, and global view HSP lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative genes validated nearly all these functionally or genetically. The pathways highlighted...
Autophagy is required for the homeostasis of cellular material and proposed to be involved in many aspects health. Defects autophagy pathway have been observed neurodegenerative disorders; however, no genetically-inherited pathogenic mutations any core autophagy-related (ATG) genes reported human patients date. We identified a homozygous missense mutation, changing conserved amino acid, ATG5 two siblings with congenital ataxia, mental retardation, developmental delay. The subjects' cells...
Many studies of human populations have used the male-specific region Y chromosome (MSY) as a marker, but MSY sequence variants traditionally been subject to ascertainment bias. Also, dating haplogroups has relied on Y-specific short tandem repeats (STRs), involving problems mutation rate choice, and possible long-term saturation. Next-generation sequencing can ascertain single nucleotide polymorphisms (SNPs) in an unbiased way, leading phylogenies which branch-lengths are proportional time,...
<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...
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Summary Two hypervariable sequence segments in the control region of mitochondrial DNA were determined samples Bulgarians and Turks. The Turkish sample presented a higher degree internal diversity, terms total number variable nucleotides, as well average pairwise nucleotide difference. Pairwise difference distributions built for both samples, yielding smooth bell shapes agreement with Rogers Harpending model. Bulgarian data compared several European W. Asian Caucasoid populations (Basques,...
Abstract The proportion of Europeans descending from Neolithic farmers ∼10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated. male-specific region the Y chromosome (MSY) widely applied to this question, but unbiased estimates diversity and time depth have lacking. Here we show that European patrilineages underwent a recent continent-wide expansion. Resequencing 3.7 Mb MSY DNA in 334 males, comprising 17 Middle Eastern populations, defines phylogeny containing...
<h3>Background</h3> Infantile neuroaxonal dystrophy (INAD) is a recessive disease that results in total neurological degeneration and death childhood. <i>PLA2G6</i> mutation the underlying genetic defect, but rare heterogeneity has been demonstrated. One of five families we studied did not link to locus, family one two affected siblings additionally had atypical features including facial dysmorphism, pectus carinatum, scoliosis, pes varus, zygodactyly bilateral cryptorchidism as well...
Split-Hand/Foot Malformation (SHFM) is a complex limb malformation affecting the central rays of autopod. We studied large consanguineous kindred afflicted with autosomal recessive SHFM. Twelve affected members had feet reductions or without hand involvement while remaining one mildest phenotype and atypical identified by homozygosity mapping novel SHFM locus at 12q13.11–q13 maximum multipoint lod score 5.47 subsequent candidate gene approach homozygous missense WNT10b mutation (p.R332W) in...
<h3>Background</h3> Recessive <i>TBC1D24</i> gene mutations have been described in two families: an Italian family afflicted with familial infantile myoclonic epilepsy, and Arab focal epilepsy intellectual disability syndrome. The patients the were compound heterozygous for mutations, whereas those homozygotes. All three missense determined to be loss of function. We conducted a search we previously reported severe, lethal epileptic encephalopathy mapping at 16pter-p13.3. <h3>Methods</h3>...
We present a family afflicted with novel autosomal recessive disease characterized by progressive intellectual disability, motor dysfunction and multiple joint contractures. No pathology was found cranial imaging, electromyography muscle biopsy, but electron microscopy in leukocytes revealed large vacuoles containing flocculent material. mapped the gene SNP genome scan linkage analysis to an ∼0.80 cM 1 Mb region at 8p11.23 multipoint logarithm of odds (LOD) score 12. By candidate approach,...
Termination sites for replication of adenovirus type 2 DNA have been demonstrated at both ends the viral chromosome by procedure Danna and Nathans (1972). Single-stranded from replicating intermediates was also characterized hybridization with separated strands DNA. The results indicate that are exposed during replication.
Isolated hypodontia is the most common human malformation. It caused by heterozygous variants in various genes, with WNT10A being cause. and WNT10B are paralogs that likely evolved from a ancestral gene after its duplication. Recently, an association of oligodontia (severe tooth agenesis) has been reported. We performed mutational analysis our cohort 256 unrelated Thai families kinds isolated dental anomalies. In 7 afflicted anomalies we detected 4 missense . whole exome sequencing patients...
Cilia and flagella are evolutionary conserved organelles that generate fluid movement locomotion, play roles in chemosensation, mechanosensation intracellular signalling. In complex organisms, cilia highly diversified, which allows them to perform various functions; however, they retain a 9+0 or 9+2 microtubules structure connected basal body. Here, we describe FOR20 (FOP-related protein of 20 kDa), previously uncharacterized is required for normal formation primary cilium. found...