Browsing by Author "Nomikos, Michail"
Now showing items 1-20 of 22
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Advancing male age differentially alters levels and localization patterns of PLCzeta in sperm and testes from different mouse strains
( Medknow Publications , 2021 , Article)Sperm-specific phospholipase C zeta (PLC) initiates intracellular calcium (Ca2+) transients which drive a series of concurrent events collectively termed oocyte activation. Numerous investigations have linked abrogation ... -
Antigen Unmasking Is Required to Clinically Assess Levels and Localisation Patterns of Phospholipase C Zeta in Human Sperm
( MDPI , 2023 , Article)Mammalian oocyte activation is initiated by intracellular calcium (Ca2+) oscillations, driven by the testis-specific phospholipase C zeta (PLCζ). Sperm PLCζ analysis represents a diagnostic measure of sperm fertilisation ... -
Arrhythmia-Associated Calmodulin E105A Mutation Alters the Binding Affinity of CaM to a Ryanodine Receptor 2 CaM-Binding Pocket
( MDPI , 2023 , Article)Calmodulin (CaM) is a small, multifunctional calcium (Ca2+)-binding sensor that binds and regulates the open probability of cardiac ryanodine receptor 2 (RyR2) at both low and high cytosolic Ca2+ concentrations. Recent ... -
Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
( Portland Press Ltd , 2024 , Article)Homocystinuria is a rare disease caused by mutations in the CBS gene that results in a deficiency of cystathionine β-synthase (CBS). CBS is an essential pyridoxal 50-phosphate (PLP)-dependent enzyme in the transsulfuration ... -
BRCA1 and Its Vulnerable C-Terminal BRCT Domain: Structure, Function, Genetic Mutations and Links to Diagnosis and Treatment of Breast and Ovarian Cancer
( Multidisciplinary Digital Publishing Institute (MDPI) , 2024 , Article)The BRCA1 is a tumor suppressor gene that encodes for the BRCA1 protein, which plays a vital role in DNA repair, cell cycle regulation, and the maintenance of genomic stability. The BRCA1 protein interacts with a variety ... -
Construct validity of an instrument for assessment of reflective writing-based portfolios of medical students
( Dove Medical Press , 2020 , Article)Purpose: Assessment of reflective writing for medical students is challenging, and there is lack of an available instrument with good psychometric properties. The authors developed a new instrument for assessment of ... -
Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model
( Springer Nature , 2024 , Article)To elucidate the lipidomic and metabolomic alterations associated with hypertrophic cardiomyopathy (HCM) pathogenesis, we utilized cmybpc3-/- zebrafish model. Fatty acid profiling revealed variability of 10 fatty acids ... -
The disease-linked R336C mutation in cystathionine β-synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity
( John Wiley & Sons , 2025 , Article)Cystathionine β-synthase (CBS) is a pyridoxal-phosphate (PLP)-dependent enzyme essential for the reverse transsulfuration pathway, where homocysteine and serine combine to form cystathionine, the immediate precursor of ... -
Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function
( John Wiley & Sons , 2024 , Article)Calmodulin (CaM) is a ubiquitous, small cytosolic calcium (Ca2+)-binding sensor that plays a vital role in many cellular processes by binding and regulating the activity of over 300 protein targets. In cardiac muscle, CaM ... -
Editorial: The role of calcium signaling in gametogenesis and early embryogenesis
( Frontiers Media , 2022 , Article)Calcium homeostasis exerts a profound role in determining the quality of gametogenesis, the resultant efficacy of fertilisation and ultimately the competency of embryogenesis. Perhaps no other single ion plays such a ... -
Generation of human-induced pluripotent stem cells from a patient with homozygous I1234V mutation of cystic fibrosis.
( Hamad bin Khalifa University Press , 2024 , Article)Cystic fibrosis (CF) is an inherited autosomal recessive disorder. The most predominant mutation among Qatari patients with CF is the homozygous I1234V mutation, which is more prevalent in a Bedouin tribe.1 There are no ... -
Health educators' professional agency in negotiating their Problem-Based Learning (PBL) facilitator roles: Q study.
( John Wiley & Sons, Ltd , 2022 , Article)University educators are expected to cope with emerging situations and complex issues in teaching and learning, and this requires them to be agentic and proactive. While professional agency of health educators has not been ... -
Increased de novo DNA methylation enzymes in sperm of individuals with varicocele
( pmc , 2021 , Article)Objective: Chronic genital heat-stress associated with varicocele leads to DNA hypo-methylation of spermatozoa. The objective of this study was comparing level of DNA methyl-transferases (DNMTs) in sperm of men suffering ... -
Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket
( Elsevier , 2023 , Article)Calmodulin (CaM) modulates the activity of several proteins that play a key role in excitation-contraction coupling (ECC). In cardiac muscle, the major binding partner of CaM is the type-2 ryanodine receptor (RyR2) and ... -
Medical students’ perspectives on an assessment of reflective portfolios [response to letter]
( Dove Medical Press , 2020 , Other)We thank Forenc et al1 for their interest in our study titled Construct Validity of an Instrument for Assessment of Reflective Writing-Based Portfolios of Medical Students.2 In their Letter to Editor, their main critique ... -
Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype
( Elsevier , 2022 , Article)The prevalence of homocystinuria in Qatar is 1:1800, mainly due to a founder missense mutation p.R336C. • The cystathionine beta-synthase (CBS) R336C mutant was bacterially expressed, purified and its molecular properties ... -
Regulatory Mechanisms That Guide the Fetal to Postnatal Transition of Cardiomyocytes
( Multidisciplinary Digital Publishing Institute (MDPI) , 2023 , Article)Heart disease remains a global leading cause of death and disability, necessitating a comprehensive understanding of the heart’s development, repair, and dysfunction. This review surveys recent discoveries that explore the ... -
The Relationship between Changes in MYBPC3 Single-Nucleotide Polymorphism-Associated Metabolites and Elite Athletes’ Adaptive Cardiac Function
( MDPI , 2023 , Article Review)Athletic performance is a multifactorial trait influenced by a complex interaction of environmental and genetic factors. Over the last decades, understanding and improving elite athletes’ endurance and performance has ... -
Shaping the future of primary healthcare: Factors influencing medical students' preference for family medicine specialty in Qatar
( Wolters Kluwer Health , 2025 , Article)BACKGROUND: As countries strive to strengthen primary healthcare systems, understanding medical students' specialty preferences, particularly for Family Medicine, becomes crucial. Objective of present study was to determine ... -
SPERM FACTORS AND EGG ACTIVATION The structure and function relationship of sperm PLCZ1
( BioScientifica , 2022 , Article Review)In 2002, sperm-specific phospholipase C zeta1 (PLCZ1) was discovered and through these 20 years, it has been established as the predominant sperm oocyte-activating factor. PLCZ1 cRNA expression or direct protein microinjection ...
