Munis Dundar

Erciyes Üniversitesi · Department of Medical Genetics

Climate change has imposed a significant struggle for survival most of the Earth’s species, highlighting the urgent need for a healthy and secure environment. Recent scientific investigations have primarily concentrated on the development and use of microorganisms as powerful biotechnological tools to address the escalating pollution that poses a s...

Climate change has imposed a significant struggle for survival most of the Earth's species, highlighting the urgent need for a healthy and secure environment. Recent scientific investigations have primarily concentrated on the development and use of microorganisms as powerful biotechnological tools to address the escalating pollution that poses a s...

Breast cancer is one of the most commonly diagnosed neoplasms affecting women world-wide, and it remains a leading cause of both mortality and morbidity. While genetic pre-disposition plays a critical role in the development of this neoplasm, significant epigenetic dysregulations accompany existing variants. The emergence of acquired drug resistanc...

Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was t...

A common cause of all cancers leads us to a common definition. This definition is mutation. Cancer cells tend to constantly resist irregularity under the influence of the thermodynamic process in their microenvironment. At the end of this dynamic process, the changes that occur in the genome of the cell and the cumulative effect of these changes ca...

Recurrent pregnancy loss is a phenomenon caused by many etiologies. The majority of these causes are chromosomal anomalies. In this case report, cytogenetic analysis was performed on the family who consulted our department with the complaint of recurrent pregnancy loss. A normal karyotype was found in the female (46, XX); however, t(2;7)(p23;q35) t...

Purpose: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from enzyme deficiencies associated with steroidogenesis. The clinical presentation of non-classic CAH (NCAH) in females is often indistinguishable from other hyperandrogenic disorders like polycystic ovary syndrome (PCOS). The data on the prevalence...

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched-chain amino acids. BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain α-ketoacid dehydrogenase complex, which is responsible for the catabolism of these amino acids. Biallelic pathogenic variants in BCKDHA, BCKDHB,...

Aim: Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. Methods: This study investigated FII and FVL alleles in a c...

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the ACAN gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the ACAN gene. Case presentation: A 3-year-3-month-old male patient was referred to us because of...

Hair loss is a widespread concern in dermatology clinics, affecting both men's and women's quality of life. Hair loss can have many different causes, which are critical to identify in order to provide appropriate treatment. Hair loss can happen due to many variables, such as genetic factors or predisposition, vitamin and mineral deficiencies, skin...

Epigenetics, defined as "hereditary changes in gene expression that occur without any change in the DNA sequence", consists of various epigenetic marks, including DNA methylation, histone modifications, and non-coding RNAs. The epigenome, which has a dynamic structure in response to intracellular and extracellular stimuli, has a key role in the con...

During pregnancy, rapid and subtle physiological changes are observed from conception to birth. Nutrition and other lifestyle factors before and during pregnancy have been shown in the literature to influence the health of both mother and child. A healthy and varied diet during pregnancy can provide adequate energy and nutrients for both the mother...

Epigenetics, defined as "hereditary changes in gene expression that occur without any change in the DNA sequence", consists of various epigenetic marks, including DNA methylation, histone modifications, and non-coding RNAs. The epigenome, which has a dynamic structure in response to intracellular and extracellular stimuli, has a key role in the con...

Hair loss is a widespread concern in dermatology clinics, affecting both men’s and women’s quality of life. Hair loss can have many different causes, which are critical to identify in order to provide appropriate treatment. Hair loss can happen due to many variables, such as genetic factors or predisposition, vitamin and mineral deficiencies, skin...

Background 11β hydroxylase deficiency (11βOHD) ranks the second most common enzyme deficiency that cause congenital adrenal hyperplasia. Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased mineralocorticoid precursor levels. Many different types of mutations in th...

Background Circulating tumor cells represent an opportunity for the assessment of early recurrent disease or for real-time tracing of cancer. Glucose Regulated Protein 78 ( GRP78 ) is known in the literature as a stress factor in endometrial cancer. We aimed to investigate the importance of the gene by targeting tumor traces circulating in the cell...

Background: Congenital myasthenic syndromes (CMS) are composed of numerous hereditary disorders involving genetic mutations in proteins essential to the integrity of neuromuscular transmission. The symptoms of CMS vary according to the age at onset of symptoms, and the type and severity of muscle weakness. Effective treatment and genetic counselin...

Objectives: Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness. One of the genetic defects that cause hereditary retinal dystrophy is mutation of the RPE65 gene. Genetic therapy studies in hereditary retinal dystrophies have increased in number recently, and i...

BACKGROUND Breast Cancer is the most common cancer type in women, second among the all cancers, and inherited with autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and two genes have been identified as the main causative for breast cancer which are BRCA1 and BRCA2. OBJECTIVE We aimed to compare...

Heterogeneity in symptoms associated with COVID‐19 in infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors for COVID‐19. In this study, a retrospective comparative genome analysis of the ACE2 and TMPRSS2 variants from 946 whole exome sequencing data was conducted. Allele frequencies of all variants...

BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyz...

BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyz...

Cyclin-dependent kinase-like 5 (CDKL5, OMIM 300203), also known as STK9 (serine/threonine kinase 9), is a gene that is thought to play a role in the production of proteins involved in the normal development of the brain, although its function is not known exactly. It is located in the p22.13 region of X chromosome. Some of the mutations reported in...

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher...

Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alström syndrome 1 (ALMS1) gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (...

Neonatal diabetes and congenital hypothyroidism syndrome (NDH) is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age (SGA), congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial feature...

Objectives: Arthrogryposis multiplex congenita-5 (AMC5) is an autosomal recessive disease caused by homozygous or compound heterozygous mutations in the TOR1A gene on chromosome 9q34. Congenital multiple joint contractures with microcephaly, typical facial dysmorphism, developmental delay, strabismus, tremor, and increased tone are the main charac...

SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by homozygous deletion in exon 7 of the SMN1 gene. However, mutations in other genes in the SMA region may contribute to the disease. These include SMN2 , which is a pseudogene of SMN1 , as well as NAIP and GTF2H2...

Alzheimer's disease (AD) is a neurodegenerative disease that is characterized by a devastating decline in cognitive activities among all types of dementia, and it severely affects the quality of life. Late-onset AD (LOAD) occurs after the age of 65 years and develops sporadically. Although aging comes first along the main risk factors underlying LO...

Smith-Kingsmore Syndrome is a very rare autosomal dominant intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. The prevalence of SKS, with 27 patients reported so far, is still unknown. Rubinstein Taybi Syndrome Type 2 (RSTS2) is another rare genetic condition that prevalance i...

Background Sitosterolemia, also known as phytosterolemia, results from increased intestinal absorption of plant sterols and decreased intestinal and biliary excretion of sterols, resulting in increased levels of plant sterols in the plasma. The most common symptoms include xanthomas, premature atherosclerosis, hemolytic anemia and macrothrombocytop...

Cleft lip and/or palate cleft is one of the malformations that can be revealed due to environmental and genetic reasons. Proportionally, 60-80% of affected individuals are males. Some people may have only cleft palate or cleft lip, while some patients may have both malformations. Nearly 6% of congenital malformations are due to apparent cytogenetic...

Background: Expressed by endothelial cells, CDH5 is a cadherin involved in vascular morphogenesis and in the maintenance of vascular integrity and lymphatic function. The main purpose of our study was to identify distinct variants of the CDH5 gene that could be associated with lymphatic malformations and predisposition for lymphedema. Methods and R...

Background Successful implantation of blastocysts is indeed an important path in mammalian reproduction that is governed by a complicated web of cytokines interactions. Leukemia inhibitory factor (LIF) and interleukin-11 (IL-11) part of the interleukin (IL)-6 groups are cytokines that are needed for effective implantation and prevent infertility sy...

Objective: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a new coronavirus responsible for the current pandemic of coronavirus disease 2019 (COVID-19). This virus attacks cells of the airway epithelium by binding transmembrane angiotensin-converting enzyme 2 (ACE2). Hydroxytyrosol has anti-viral properties. Alpha-cyclodextrin can...

Objective: The aim of the study was to show the importance of developing techniques that could exploit the potential of bacteriophages as therapeutics or food supplements. Materials and methods: PubMed database was searched using the following combination of keywords: (bacteriophage) AND (human therapy); (natural bacteriophage) AND (application)...

Artificial intelligence provides modelling on machines by simulating the human brain using learning and decision-making abilities. Early diagnosis is highly effective in reducing mortality in cancer. This study aimed to combine cancer-associated risk factors including genetic variations and design an artificial intelligence system for risk assessme...

Shwachman-Diamond Syndrome (SDS) and related bone marrow failure disorders are characterized by early onset pancytopenia with a hypocellular bone marrow, short stature, and pancreatic insufficiency, along with an increased risk for myeloid malignancies. Recently, several cases with an SDS-like syndrome have been reported to harbor mutations in the...

Imatinib mesylate, a tyrosine kinase inhibitor, is the first choice in chronic myeloid leukemia treatment. However, resistance to imatinib may develop with time and in some cases, patients may not respond at all to imatinib. Progressive resistance to imatinib therapy is often due to mutations in the BCR/ABL region. Within the scope of our study 124...

Background Essential tremor (ET) is the most common movement disorder. Propranolol is a first-line medication for ET. We aimed to evaluate the effect of propranolol on the expression of poly (ADP-ribose) polymerase 1 (PARP1) and DNA polymerase beta (POLB) genes, which are known to be related to neurodegenerative diseases, in patients with ET. Metho...

78 adir hastalıkların yaygın olarak kabul edilen resmi bir tanımı yoktur, birçok tanım sadece sözkonu hastalığın toplumdaki sıklığına dayanırken diğer tanım-lamalar yeterli tedavi veya hastalık şiddeti gibi diğer faktörleri içerir. Amerika Birleşik Devletleri'nde, 200.000 kişiden az kişiyi etkileyen hastalıklar nadir hastalıklar olarak kabul edilme...

SVEP1, also known as Polydom, is a large extracellular mosaic protein with functions in protein interactions and adhesion. Since Svep1 knockout animals show severe edema and lymphatic system malformations, the aim of this study is to evaluate the presence of SVEP1 variants in patients with lymphedema. We analyzed DNA from 246 lymphedema patients fo...

INTRODUCTION[|]This study was designed to investigate the changes in expression levels of CYP1A2, CYP2D6, CYP2E1 and CYP3A4 genes in patients treated for alcohol dependence and a control group. The frequency of selected polymorphisms of these genes that might be a risk factor for alcohol-dependence and may affect the treatment success is also inves...

The pandemic caused by the worldwide spread of the coronavirus, which first appeared in 2019, has been named coronavirus disease 19 (COVID-19). More than 4.5 million deaths have been recorded due to the pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), according to the World Health Organization (WHO) COVID-19 Dashboar...

78 N adir hastalıkların yaygın olarak kabul edilen resmi bir tanımı yoktur, birçok tanım sadece sözkonu hastalığın toplumdaki sıklığına dayanırken diğer tanım-lamalar yeterli tedavi veya hastalık şiddeti gibi diğer faktörleri içerir. Amerika Birleşik Devletleri'nde, 200.000 kişiden az kişiyi etkileyen hastalıklar nadir hastalıklar olarak kabul edil...

Limb girdle muscular dystrophy type R1 disease is a progressive disease that is caused by mutations in the CAPN3 gene and involves the extremity muscles of the hip and shoulder girdle. The CAPN3 protein has proteolytic and non-proteolytic properties. The functions of the CAPN3 protein that have been determined so far can be listed as remodeling and...

Epigenetics is defined as changes in gene expression that occur through various mechanisms without any change in the DNA sequence. These mechanisms include various modifications such as methylation, acetylation, and sumoylation, and they form a kind of decision-making mechanism on genes by turning on and off the gene expression. The term “environme...

Background: In this study, expression level analysis of genes associated with Attention Deficit Hyperactivity Disorder (ADHD) (SLC6A3, SLC6A4, SLC1A2, VMAT2, MAOA, COMT, GLYAT, GRM5, DRD4, TPH1, and ADRA2C) by pre-treatment and post-treatment with Atomoxetine and Methylphenidate was investigated. Methods: Forty-three ADHD diagnosed children and 38...

Background During 19th century, the Circassians were secluded from their lands and forced to migrate to Ottoman Empire properties. Approximately 2,346 Circassians were exiled from Istanbul to Cyprus Island. During the deportation journey, many of Circassian were passed away in consequence of malaria and unknown reasons. Overall, 1,351 survivor Circ...

Lymphedema is a chronic disease caused by the accumulation of protein-rich interstitial fluid. Clinical symptoms involve swelling of the extremities and fibrosis. Multiple genes have been implied to be associated with the development of lymphedema and are used in genetic testing. We applied Next Generation Sequencing of 65 candidate genes in 235 sa...

The pandemic COVID-19 is caused by a highly transmissible severe acute respiratory coronavirus 2 (SARS-CoV-2) which showed the highest morbidity and mortality rates among the other coronavirus infections such as SARS-CoV and MERS-CoV. However, the numbers of infected cases as well as mortality rates are varying from population to population. Theref...

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) was first reported in the city Wuhan, China in December 2019. The high rates of infection led to quick spread of the virus around the world and on March 11 th , 2020, the World Health Organization (WHO) announced the pandemic of the Coronavirus disease 2019 (COVID-19) caused by the SARS-C...

Biotechnology is an innovative, interdisciplinary field that impacts many different sectors, including agriculture, veterinary, medicine, pharmaceutical and fine chemicals production. It is emerging as one of the leading technologies for the transition towards carbon-free society and for solving critical societal challenges comprising health protec...

This article aims at answering the following questions: (1) What is the influence of age structure on the spread of coronavirus disease 2019 (COVID-19)? (2) What can be the impact of stringency policy (policy responses to the coronavirus pandemic) on the spread of COVID-19? (3) What might be the quantitative effect of development levelincome and nu...

The biotechnology field has grown rapidly in recent years. Much attention is given to the potential of the biotechnology industry, from drugs and medical devices to environmental products which have the potential to generate tremendous opportunities for society, by improving the quality of health care and producing a cleaner environment. Red-biotec...

Background: We developed a Next-Generation-Sequencing (NGS) protocol to screen the most frequent genetic variants related to lymphedema and a group of candidate genes. The aim of the study was to find the genetic cause of lymphedema in the analyzed patients. Methods: We sequenced a cohort of 246 Italian patients with lymphatic malformations. In the...

Neuropilins are transmembrane coreceptors expressed by endothelial cells and neurons. NRP1 and NRP2 bind a variety of ligands, by which they trigger cell signaling, and are important in the development of lymphatic valves and lymphatic capillaries, respectively. This study focuses on identifying rare variants in the NRP1 and NRP2 genes that could b...

Bacteriophages, though discovered a century ago, still lag behind in the race of antimicrobials due to scarce information about their biology, pharmacology, safety and suitability as therapeutic agents. Although they possess several capabilities of practical utility in medicine, they are still unable to satisfy the regulatory standards set by the r...

SEMA3A is a semaphorin involved in cell signaling with PlexinA1 and Neuropilin-1 (NRP1) receptors and it is responsible for recruiting dendritic cells into lymphatics. Mutations in the SEMA3A gene result in abnormalities in lymphatic vessel development and maturation. We investigated the association of SEMA3A variants detected in lymphedema patient...

Guiding legislation and associated bureaucracy for the ethical review of clinical trials observational studies and food related research play an important role in the competitiveness of a nation in the face of tough global competition to attract sponsors and investigators. This is of particular relevance in the case of multicentre trials and multid...

Human gastrointestinal tract is colonized by bacteria that constitute the interstinal microbiota. Changes in the microbiota may lead to several chronic disorders. Bacteriophages are viruses that specifically target bacteria. Several food components contain bacteriophages and probiotics. Bacteriophages have a great specificity for harmful bacteria,...

Phages are the obligate parasite of bacteria and have complex interactions with their hosts. Phages can live in, modify, and shape bacterial communities by bringing about changes in their abundance, diversity, physiology, and virulence. In addition, phages mediate lateral gene transfer, modify host metabolism and reallocate bacterially-derived bioc...

Background and aim of the work: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the current pandemics of coronavirus disease. This virus is able to attack the cells of the airway epithelium by binding to the transmembrane angiotensin I converting enzyme 2 (ACE2). We developed an oral spray that could inhibit the SAR...

Background and aim: The autonomic system is made of two divisions called the sympathetic and parasympathetic nervous systems and extends from the central to the peripheral nervous system for controlling homeostasis. Autonomic dysfunction, also known as dysautonomia, occurs when the nerves that control involuntary bodily functions do not work prope...