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View article: Three-Dimensional Cartilage Tissue Engineering Using Placenta-Derived Extra-Embryonic Mesenchymal Stem Cells: From Isolation to Differentiation
Three-Dimensional Cartilage Tissue Engineering Using Placenta-Derived Extra-Embryonic Mesenchymal Stem Cells: From Isolation to Differentiation Open
Background/Objectives: Mesenchymal stem cells (MSCs) offer promising prospects for novel treatment modalities in cellular therapies and artificial organ production. Despite a surge in artificial tissue research, there is a dearth of compre…
View article: Prognostic Significance of Liquid Biopsy-Detected Genetic Alterations in Hepatocellular Carcinoma
Prognostic Significance of Liquid Biopsy-Detected Genetic Alterations in Hepatocellular Carcinoma Open
Liquid biopsy-detected genetic alterations correlate with clinical outcomes in HCC, underscoring the prognostic value of ctDNA analysis. Mutations in FGFR1 and FGFR3 were associated with aggressive disease, suggesting these pathways as pot…
View article: Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders
Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders Open
Integrating genetic, clinical, and laboratory findings is essential in providing accurate diagnoses and management of IPDs. Early genetic diagnosis and personalized therapeutic strategies improve outcomes. Future research should focus on f…
View article: Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder Open
The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants in tRNA-modification enzymes have been implicated in a wide range of human neurodevelopmental and neurological disorder…
View article: Effect of 900 MHz radiofrequency electromagnetic radiation emitted from mobile phone on testicular immunity and the associated risk of testicular germ cell tumor
Effect of 900 MHz radiofrequency electromagnetic radiation emitted from mobile phone on testicular immunity and the associated risk of testicular germ cell tumor Open
The emission of radiofrequency electromagnetic radiation (RF-EMR) from mobile phones has been implicated in causing inflammatory changes in the testis. Nevertheless, the direct association of these changes with the development of testicula…
View article: Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey
Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey Open
Background: Cardiomyopathy (CM) is an important factor affecting inherited metabolic disorders (IMDs). Therefore, documentation of real-world data can increase awareness, and early diagnosis and treatment may improve the outcome. Objective…
View article: Genetic testing and counseling challenges in personalized breast cancer care: review article with insights from Türkiye
Genetic testing and counseling challenges in personalized breast cancer care: review article with insights from Türkiye Open
According to current evidence, testing for germline BRCA pathogenic variants in newly diagnosed breast cancer (BC) patients has the potential to reduce the burden of the disease through targeted therapies and secondary prevention. A…
View article: Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders
Evaluation of Patients Diagnosed with Congenital Glycosylation Defects: A Rainbow of Inherited Metabolic Disorders Open
Introduction: Congenital glycosylation defects (CDGs) manifest with multisystemic symptoms involving the immune, central nervous, endocrine, and musculoskeletal systems. A total of 137 distinct CDG types have been identified to date. Mater…
View article: BMAP-27 Peptide Reduces Proliferation and Increases Apoptosis in Primary and Metastatic Colon Cancer Cell Lines
BMAP-27 Peptide Reduces Proliferation and Increases Apoptosis in Primary and Metastatic Colon Cancer Cell Lines Open
BMAP-27 peptide is reported to possess apoptotic and anti-proliferative effects against cancer cells but the actual mechanism of action is yet to be investigated. In the current investigation, we aimed to study the role of the BMAP-27 pept…
View article: AML-144 Investigating FLT3 Mutations In Acute Myeloid Leukemia: A Single-Center Real-World Data Study on Patient Outcomes and Treatment Strategies
AML-144 Investigating FLT3 Mutations In Acute Myeloid Leukemia: A Single-Center Real-World Data Study on Patient Outcomes and Treatment Strategies Open
View article: Investigating FLT3 Mutations in Acute Myeloid Leukemia: A Single-Center Real-World Data Study on Patient Outcomes and Treatment Strategies
Investigating FLT3 Mutations in Acute Myeloid Leukemia: A Single-Center Real-World Data Study on Patient Outcomes and Treatment Strategies Open
Acute Myeloid Leukemia (AML) is a complex hematological malignancy with considerable genetic heterogeneity. Fms-like tyrosine kinase 3 (FLT3) mutations are associated with poor prognosis and occur in nearly 30% of AML cases. This study del…
View article: BMAP-27 Peptide Reduces Proliferation and Increases Apoptosis in Primary and Metastatic Colon Cancer Cell Lines
BMAP-27 Peptide Reduces Proliferation and Increases Apoptosis in Primary and Metastatic Colon Cancer Cell Lines Open
BMAP-27 peptide known to exert cytotoxic effects against cancer cells by membrane integrity disruption. In the current investigation, we aimed to study the role of the BMAP-27 peptide in reducing colon cancer cell proliferation and inducin…
View article: A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey Open
Patients with BRCA2 mutations were significantly more common than those with BRCA1 mutations. In sporadic cases, there was a lower proportion with BRCA1/BRCA2 variants, as expected, and these results were consistent wi…
View article: Functional Foods: A Promising Strategy for Restoring Gut Microbiota Diversity Impacted by SARS-CoV-2 Variants
Functional Foods: A Promising Strategy for Restoring Gut Microbiota Diversity Impacted by SARS-CoV-2 Variants Open
Natural herbs and functional foods contain bioactive molecules capable of augmenting the immune system and mediating anti-viral functions. Functional foods, such as prebiotics, probiotics, and dietary fibers, have been shown to have positi…
View article: Changes of gut microbiota in FAP and UC patients in Mediterranean region of Turkey: an omic landscape to be discovered
Changes of gut microbiota in FAP and UC patients in Mediterranean region of Turkey: an omic landscape to be discovered Open
Inflammatory bowel diseases, familial adenomatous polyposis (FAP) and colorectal cancer (CRC) are associated with alterations of the intestinal microbiota. However, few data are available on the perpetuation of FAP and ulcerative colitis (…
View article: Functional Foods: A Promising Strategy for Restoring Gut Microbiota Diversity Impacted by SARS-CoV-2 Variants
Functional Foods: A Promising Strategy for Restoring Gut Microbiota Diversity Impacted by SARS-CoV-2 Variants Open
Natural herbs and functional foods contain bioactive molecules capable of augmenting the immune system and mediating anti-viral functions. Functional foods, such as prebiotics, probiotics, and dietary fibers, have been shown to have positi…
View article: An Updated Review on the Role of Nanoformulated Phytochemicals in Colorectal Cancer
An Updated Review on the Role of Nanoformulated Phytochemicals in Colorectal Cancer Open
The most common cancer-related cause of death worldwide is colorectal cancer. It is initiated with the formation of polyps, which further cause the development of colorectal cancer in multistep phases. Colorectal cancer mortality is high d…
View article: Hemophagocytic Lymphohistiocytosis in Children with Griscelli Syndrome Type 2 : Genetic, Laboratory findings and Treatment
Hemophagocytic Lymphohistiocytosis in Children with Griscelli Syndrome Type 2 : Genetic, Laboratory findings and Treatment Open
Griscelli syndrome is a rare autosomal recessive inherited syndrome that causes immunodeficiency. Hemophagocytic lymphohistiocytosis (HLH), which is characterized by high mortality, may develop due to Griscelli syndrome type 2 (GS2). We ai…
View article: Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia Open
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…
View article: Kanserde somatik ve germ-line tüm genom dizileme ve transkriptom profillemeye yönelik biyoinformatik analiz algoritmalarının geliştirilmesi
Kanserde somatik ve germ-line tüm genom dizileme ve transkriptom profillemeye yönelik biyoinformatik analiz algoritmalarının geliştirilmesi Open
Yeni nesil dizileme yöntemi (YND), hassas ve güvenilir bir çalışma yöntemi olması sebebiyle rutin kullanımda yerini almış olup kanserden nadir hastalıklara kadar bütün genetik temelli hastalıklarda değerini ortaya koymaktadır. Ancak hem el…
View article: Hemophagocytic lymphohistiocytosis in children with Griscelli syndrome type 2: genetics, laboratory findings and treatment.
Hemophagocytic lymphohistiocytosis in children with Griscelli syndrome type 2: genetics, laboratory findings and treatment. Open
Griscelli syndrome is a rare inherited autosomal recessive syndrome that causes immunodeficiency. Hemophagocytic lymphohistiocytosis (HLH), which is characterized by a high mortality rate, may develop because of Griscelli syndrome type 2 (…
View article: Handbook of Animal Models and its Uses in Cancer Research
Handbook of Animal Models and its Uses in Cancer Research Open
This book presents the construction and use of animal models in understanding the molecular mechanisms, genetics of cancer, and therapeutic targets.
View article: Real-world applications of tumor mutation burden (TMB) analysis using ctDNA and FFPE samples in various cancer types of Turkish population
Real-world applications of tumor mutation burden (TMB) analysis using ctDNA and FFPE samples in various cancer types of Turkish population Open
Tumor mutation burden (TMB) has become one of the most popular approaches in the last decade as a molecular genetic testing strategy for cancer therapeutics that represents the somatic variations per Mbase in coding regions of the genome a…
View article: A study on total RNA including microRNA isolation from cell lines by different cost effective methods
A study on total RNA including microRNA isolation from cell lines by different cost effective methods Open
Small non-coding RNAs have been recognized as potential controllers of various biological functions, including gene expression, molecular growth, and physiological functions. The diverse ways considerably aid the prognosis and diagnosis of…
View article: CLINICAL FEATURES OF FLT3 MUTATIONS IN ACUTE MYELOID LEUKEMIA CASES AND THE ROLE OF FLT3 INHIBITORS IN THE TREATMENT OF ACUTE MYELOID LEUKEMIA: A SINGLE CENTER EXPERIENCE
CLINICAL FEATURES OF FLT3 MUTATIONS IN ACUTE MYELOID LEUKEMIA CASES AND THE ROLE OF FLT3 INHIBITORS IN THE TREATMENT OF ACUTE MYELOID LEUKEMIA: A SINGLE CENTER EXPERIENCE Open
AML is an aggressive and mortal disease. Worldwide, approximately 120.000 new AML cases and over 100.000 AML-related deaths occur each year and FLT3 mutations contribute to poor prognosis in AML. FLT3 mutations of 149 patients aged 20-95 y…
View article: Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children
Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children Open
Patients with Bartter syndrome and Gitelman syndrome may have a different clinical course due to the underlying genetic mutation. Bartter syndrome and Gitelman syndrome require lifelong treatment, and regular follow-up is important to prev…
View article: A multicenter study of genotype variation/demographic patterns in 2475 individuals inluding with 1444 cases with breast cancer in Turkey Short Title: BRCA profiling of breast-cancer patients in Turkey
A multicenter study of genotype variation/demographic patterns in 2475 individuals inluding with 1444 cases with breast cancer in Turkey Short Title: BRCA profiling of breast-cancer patients in Turkey Open
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 bee…
View article: A Novel Loss of Function Variant of SLC19A1 Presented with Immunodeficiency and Benefited from Folinic Acid Treatment
A Novel Loss of Function Variant of SLC19A1 Presented with Immunodeficiency and Benefited from Folinic Acid Treatment Open
Insufficient dietary folate intake, hereditary malabsorption, or defects in folate metabolism may lead to combined immunodeficiency (CID). Although loss of function mutations in the major intestinal folate transporter PCFT/SLC46A1 was show…
View article: Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population
Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population Open
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 AC…
View article: Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey Open
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 …