A5072642001- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- ATP Synthase and ATPases Research
- Ion channel regulation and function
- Ubiquitin and proteasome pathways
- Genomic variations and chromosomal abnormalities
- Diet and metabolism studies
- Autism Spectrum Disorder Research
- Microtubule and mitosis dynamics
- Cerebrovascular and genetic disorders
- Barrier Structure and Function Studies
- RNA Research and Splicing
- Metabolism, Diabetes, and Cancer
- Intracerebral and Subarachnoid Hemorrhage Research
- Cell Adhesion Molecules Research
- Congenital heart defects research
- Immunodeficiency and Autoimmune Disorders
- Epigenetics and DNA Methylation
- Pancreatic function and diabetes
- Caveolin-1 and cellular processes
- RNA modifications and cancer
- Peptidase Inhibition and Analysis
Dokuz Eylül University
2018-2024
Izmir University
2022
Children's Hospital of Eastern Ontario
2020
University of Ottawa
2020
Abstract Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk autosomal recessive genetic conditions, leading to severe disability or premature death, with significant health and economic burden. A definitive molecular diagnosis could not be achieved these children previously, as infrastructures access sophisticated diagnostic options were limited. We studied the cause neurogenetic disease 246 from 190 consanguineous families recruited three Turkish...
In 2009, we identified TACO1 as a novel mitochondrial disease gene in single family, however no second family has been described to confirm the role of disease.In this report, describe two independent consanguineous families carrying pathogenic variants TACO1, confirming phenotype.Detailed clinical investigations and whole exome sequencing with haplotype analysis have performed several members reported families.Clinical phenotype patients confirms originally childhood-onset progressive...
Dihydropyridine receptor congenital myopathy is a recently described caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were single report. Here, we describe consanguineous family with three affected children, presenting hypotonia, contractures, ophthalmoplegia and respiratory insufficiency, novel homozygous mutation They also showed cognitive delay, pes equinovarus deformity neurogenic changes that have not been associated this previous...
Abstract A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay facial dysmorphism, caused heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating located throughout gene, missense changes principally at C-terminal end of protein mostly resulting haploinsufficiency . Through whole exome sequencing, we identified a homozygous variant patient showing more severe symptoms than...
Abstract Primary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They caused by pathogenic variants in or nuclear DNA that disrupt structure and/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid metabolism. Cardiolipin, signature mitochondria, resides primarily inner membrane, where it is biosynthesized and remodelled via multiple enzymes fundamental several aspects...
<h3>Objective</h3> This study presents the neurologic phenotypes of 2 brothers with a novel homozygous <i>COL4A1</i> mutation that was identified in large Turkish consanguineous cohort neurogenetic diseases. <h3>Methods</h3> Whole-exome sequencing and bioinformatic analysis families children affected by early-onset, disorders performed using RD-Connect Genome-Phenome Analysis Platform. We also clinical, EEG, neuroimaging analyses unaffected siblings parents. <h3>Results</h3> have missense...
Microtubules help building the cytoskeleton of neurons and other cells. Several components gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish family with dysmorphic features, developmental delay, brain malformation, epilepsy carrying homozygous mutation (p.Glu311Lys) TUBGCP2 encoding γ-tubulin 2 (GCP2) protein. This variant is predicted to disrupt electrostatic interaction GCP2 GCP3. In...
Although they are rare in the population, neurodevelopmental disorders (RNDDs) constitute a significant portion of all diseases. While advancements sequencing technologies led to improvements diagnosing and managing diseases, accurate pathogenicity classification identified variants is still challenging. Sequence altering pre-mRNA splicing make up part pathogenic variants. Despite advances silico prediction tools, noncanonical splice site one groups that pose challenge their clinical...
Abstract Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, biological pathways and processes that could targets for a potential molecular therapy are not yet known. This study aimed identify ID-related shared utilizing enrichment analyses. Methods In this multicenter study, causative genes patients with ID were used as input Disease Ontology (DO), Gene (GO), Kyoto Encyclopedia Genes Genomes analysis. Results Genetic test...
Objective:The proteome is all the proteins produced or modified by an organism system.Proteomics, which important component of functional genomics, describes detection and characterization a complete set present in cell, organ, at given time.The katanin-like 2 (KATNAL2) gene encodes protein with microtubule-severing function, based on studies cell cultures lower organisms.However, there are no investigating function this humans, yet.In study, we aimed to perform proteomic analysis...