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» Authors » Kerem Terali

Kerem Terali

Explore the profile of Kerem Terali including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 45
Citations 182
Followers 0
Related Specialties
Molecular Biology
Biochemistry
Biology
Top 10 Co-Authors
Nazmi Ozer
Ozlem Dalmizrak
Ayberk Turkyilmaz
Ariel Kushmaro
Victor Markus
Mustafa Dogan
Robert S Marks
Recep Eroz
Karina Golberg
Safiye Gunes Sager
Published In
Mol Biol Rep
Molecules
Mol Syndromol
J Environ Sci Health B
Neurogenetics
Affiliations
Soon will be listed here.
Recent Articles
1.
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort
Turkyilmaz A, Sager S, Terali K, Kart P, Kamasak T, Ayaz A, et al.
Clin Genet . 2024 Dec; 107(4):373-389. PMID: 39659179
Intellectual disability (ID) is defined as a severe impairment in reasoning, learning, and problem-solving abilities along with adaptive behavior that occurs before the age of 18 years. The present study...
2.
A Novel Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy
Caliskan E, Sager S, Ayaz A, Terali K, Gunbey H
Mol Syndromol . 2024 Dec; 15(6):481-486. PMID: 39634239
Introduction: Pathogenic variants in several genes encoding components of the mitochondrial respiratory chain have been linked to various clinical phenotypes such as progressive cavitating leukoencephalopathy (PCL). The association between PCL,...
3.
Nebivolol, an FDA-Approved Drug, Has General Antibacterial and Antibiofilm Effects and Increases Tolerance to Ciprofloxacin
Schlichter Kadosh Y, Goorevitch N, Terali K, Gopas J, Kushmaro A
Pharmaceuticals (Basel) . 2024 Nov; 17(11). PMID: 39598384
Background: The repurposing of approved drugs for new activities is gaining widespread attention, including drugs that have antibacterial properties. Nevertheless, besides the benefits of repurposing drugs, the discovery of new...
4.
Biallelic Deletion of Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease
Yalcinkaya B, Saglam K, Terali K, Tekin E, Taslak H, Turkyilmaz A
Mol Syndromol . 2024 Oct; 15(5):380-388. PMID: 39359950
Introduction: Peroxisome biogenesis disorders (PBDs) encompass a group of diseases marked by clinical and genetic heterogeneity. Phenotypes linked to PBDs include Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease (IRD), rhizomelic...
5.
A comprehensive assessment of the cholinergic-supporting and cognitive-enhancing effects of Rosa damascena Mill. (Damask rose) essential oil on scopolamine-induced amnestic rats
Terali K, Ozbeyli D, Yigit-Hanoglu D, Baser K, Sener G, Aykac A
Brain Behav . 2024 Apr; 14(5):e3507. PMID: 38688895
Introduction: Alzheimer's disease (AD) is a neurodegenerative condition characterized by gradual loss of cognitive abilities (dementia) and is a major public health problem. Here, we aimed at investigating the effects...
6.
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome
Dogan M, Terali K, Eroz R, Kilic H, Gezdirici A, Gonullu B
Mol Biol Rep . 2024 Apr; 51(1):580. PMID: 38668754
Objective: Superoxide dismutase 1 (SOD1) is an important antioxidant enzyme whose main function is to neutralise superoxide free radicals in the cytoplasm. Heterozygous variants in SOD1 are responsible for a...
7.
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
Turkyilmaz A, Sager S, Tekin E, Terali K, Duzkalir H, Eser M, et al.
Neurogenetics . 2024 Feb; 25(2):119-130. PMID: 38388889
The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different...
8.
A Rare Presentation of Homozygous Pathogenic Variant in Gene with Salt-Wasting Crisis in a Neonate
Kardas Yildiz A, Bulbul A, Ozer Bekmez B, Turkyilmaz A, Terali K, Dagdeviren Cakir A, et al.
Mol Syndromol . 2024 Feb; 15(1):77-82. PMID: 38357256
Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from isolated glucocorticoid deficiency or unresponsiveness to adrenocorticotropic hormone. Patients with FGD usually present in infancy or early...
9.
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders
Yilmaz M, Kamasak T, Terali K, Cebi A, Turkyilmaz A
Am J Med Genet A . 2024 Jan; 194(5):e63535. PMID: 38189198
ABH8, the protein encoded by the ALKBH8 gene, modifies tRNAs by methylating their anticodon wobble uridine residues. The variations in the ALKBH8 gene are associated with the "intellectual developmental disorder,...
10.
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome
Terali K, Turkyilmaz A, Sager S, Cebi A
Clin Transl Sci . 2023 Nov; 17(1):e13679. PMID: 37955180
Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in SCN1A, the gene encoding the pore-forming α-subunit...