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View article: Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets
Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets Open
Phosphate plays an essential role in bone mineralization. Hypophosphatemic rickets (HR) is a rare phosphate-wasting disorder that leads to rickets, which may be FGF23-dependent or independent. In this study, we aimed to evaluate the clinic…
View article: Computational Analysis of <i>CC2D1A</i> Missense Mutations: Insight into Protein Structure and Interaction Dynamics
Computational Analysis of <i>CC2D1A</i> Missense Mutations: Insight into Protein Structure and Interaction Dynamics Open
CC2D1A is implicated in a range of conditions, including autism spectrum disorder, intellectual disability, seizures, autosomal recessive nonsyndromic intellectual disability, heterotaxy, and ciliary dysfunction. In order to underst…
View article: CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow Open
Intellectual and developmental disabilities result from abnormal nervous system development. Over a 1,000 genes have been associated with intellectual and developmental disabilities, driving continued efforts toward dissecting variant func…
View article: The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution
The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution Open
Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pat…
View article: Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region
Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region Open
Alzheimer’s disease (AD) is a major global health challenge, especially among individuals aged 65 or older. According to population health studies, Turkey has the highest AD prevalence in the Middle East and Europe. To accurately determine…
View article: Ailevi Akdeniz Ateşi Tanısı Olan Hastalarda Ekzon 10 Lokasyonunda Mutasyon Pozitifliğinin Klinik ve Laboratuvar Yansıması
Ailevi Akdeniz Ateşi Tanısı Olan Hastalarda Ekzon 10 Lokasyonunda Mutasyon Pozitifliğinin Klinik ve Laboratuvar Yansıması Open
Ailevi Akdeniz Ateşi (AAA) 10 ekzondan oluşan Mediterranean Fever (MEFV) geninde meydana gelen mutasyonlar sonucu tekrarlayan ateş ve serözit ataklarıyla seyreden otoinflamatuar bir hastalıktır. Ekzon 10 lokasyonunda mutasyon pozitifliği t…
View article: Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma Open
View article: Pan-Immune-Inflammation Value Could Be a New Marker to Predict Amyloidosis and Disease Severity in Familial Mediterranean Fever
Pan-Immune-Inflammation Value Could Be a New Marker to Predict Amyloidosis and Disease Severity in Familial Mediterranean Fever Open
Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever and serositis. Blood-based biomarkers determined in FMF patients during attack-free periods could be used to predict the risk of amyloidosis and the severit…
View article: Invited Speaker Abstracts
Invited Speaker Abstracts Open
Nature abounds in self-assembling systems that include cell membranes, actin fibres and the flagellum rotor.Nature inspired design attempts to learn from the organizing principles of these structures while introducing novel molecular desig…
View article: A new line method; A direct test in spinal muscular atrophy screening for DBS
A new line method; A direct test in spinal muscular atrophy screening for DBS Open
Background Nucleic acid‐based assays provide an opportunity to screen for genetically encoded diseases like spinal muscular atrophy (SMA), before the onset of symptoms. Nowadays, such assays could be easily utilized as high‐throughputs in …
View article: Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık
Glutatyon S-Transferaz Gen Polimorfizmleri ve Kronik Miyeloproliferatif Hastalığa Yatkınlık Open
Amaç: Ksenobiyotiklerin biyotransformasyonunda yer alan enzimleri kodlayan genlerin polimorfizmleri ile çeşitli kanserlere yatkınlık arasındaki ilişkiler, farklı çalışmalarda gösterilmiştir
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: An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience Open
Hypocalcemia may be detected during acute illness in some cases where hypocalcemia appears at later ages. There was no significant difference between permanent and transient hypoparathyroidism cases in terms of PTH level. Recognition of th…
View article: A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets
A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets Open
Introduction: X-linked hypophosphatemic is a result of a mutation which leads to loss of function in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene.The case is here presented of a patient followed up for XLH rickets, w…
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: 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: 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 …
View article: Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations
Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations Open
STAT3 plays an important role in various complex and sometimes contradictory pathways such as proliferation, differentiation, migration, inflammation, and apoptosis. The transcriptional activity of the STAT3 gene is controlled by a transcr…
View article: Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels
Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels Open
View article: Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium Open
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 mu…
View article: Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene
Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene Open
Birt-Hogg-Dube syndrome (BHDS) is a rare disorder characterized by the triad of cutaneous lesions, renal tumors, lung cysts and inactivation of the gene folliculin (FLCN). Here, we present three female patients diagnosed with…
View article: Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas
Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas Open
Mevalonic aciduria (MA) is a severe and rare clinical entity characterized by growth failure, neuropsychomotor development delay, dysmorphic features, periodic fever episodes of involving joints, abdominal organs and skin. Severe gastroint…
View article: BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models
BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models Open
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-asso…
View article: Mutation status and immunohistochemical correlation of <i>EGFR</i> mutations in gastrointestinal stromal tumors
Mutation status and immunohistochemical correlation of <i>EGFR</i> mutations in gastrointestinal stromal tumors Open
Being one of the leading causes of cancer deaths worldwide and their resistance to conventional treatment methods, made gastrointestinal stromal tumors (GISTs) one of the hot topics in medical research areas in the past decade. To investig…
View article: Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia
Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia Open
Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these p…
View article: A Rare Cyctic Lung Disease: Birt-Hogg-Dubé Syndrome
A Rare Cyctic Lung Disease: Birt-Hogg-Dubé Syndrome Open
Birt-Hogg Dubé Sendromu (BHDS) nadir görülen otozomal dominant genetik geçişli bir hastalık olup, pulmoner kistler bunlara bağlı spontan pnömotoraks, benign cilt tümörleri (fibrofolliküloma, trikodiskoma), ve renal tümörlerle karakterizedi…
View article: The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease
The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease Open
In this study, we had a 7.15% diagnosis rate with the NGS (Next Generation Sequencing) method in the CMT disease. Targeted next-generation sequencing panels are beneficial, time-saving, and cost-effective in the diagnosis of CMT.
View article: Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case
Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case Open
Purpose Turner syndrome is a sex chromosomal aberration where majority of the patients have 45,X karyotype, while several patients are mosaic involving 45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is consi…
View article: A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story
A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story Open
Objectives Fructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene. Case presentation Our patient was 17-years-old when she was diagnosed with the…