Anne John

United Arab Emirates University — AE

Medicine · Health Sciences

18h-index1.2kcitations60works2.62yr avg
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Research Topics

Hemoglobinopathies and Related Disorders(5), Mitochondrial Function and Pathology(4), Pharmacogenetics and Drug Metabolism(4), Iron Metabolism and Disorders(4), Cell Adhesion Molecules Research(4)

Publications60 total

Combined Role of CYP3A4 and CYP3A5 genetic variants in tacrolimus dose-adjusted trough levels: a clinical retrospective study in kidney transplant patients
The Pharmacogenomics Journal·2026
Impact of CYP3A4 and ABCB1 genetic variants on tacrolimus dosing in Greek kidney transplant recipients
Frontiers in Pharmacology·2025· 2 citedOpen Access
Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization
Frontiers in Cell and Developmental Biology·2024· 2 citedOpen Access
Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients
Genes·2024· 3 citedOpen Access
Spectrum of genetic variants in bilateral sensorineural hearing loss
Frontiers in Genetics·2024· 6 citedOpen Access
Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature
Frontiers in Cell and Developmental Biology·2023· 9 citedOpen Access
Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum
Frontiers in Genetics·2023· 3 citedOpen Access
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis
Frontiers in Pediatrics·2023· 2 citedOpen Access
GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model
Lipids in Health and Disease·2023· 6 citedOpen Access
GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR
Research Square (Research Square)·2023Open Access
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Human Genomics·2022· 9 citedOpen Access
Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways
Frontiers in Molecular Biosciences·2022· 9 citedOpen Access
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking
Research Square (Research Square)·2022· 1 citedOpen Access
<scp>Bi‐allelic</scp> null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive
Clinical Genetics·2022· 9 cited
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features
Molecular Syndromology·2021· 3 citedOpen Access
Multiomics Analysis Coupled with Text Mining Identify Novel Biomarker Candidates for Recurrent Cardiovascular Events
OMICS A Journal of Integrative Biology·2020· 5 cited
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia
FEBS Open Bio·2019· 49 citedOpen Access
Issue Information
Journal of the European Academy of Dermatology and Venereology·2019Open Access
Genomic Variants in Members of the Krüppel-Like Factor Gene Family are Associated with Disease Severity and Hydroxyurea Treatment Efficacy in β-Hemoglobinopathies Patients
Pharmacogenomics·2019· 3 cited
Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study
Hemoglobin·2019· 12 cited
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Frequent Co-authors

Bassam R. Ali(41), Lihadh Al‐Gazali(21), Praseetha Kizhakkedath(10), George P. Patrinos(10), Θεοδώρα Κάτσιλα(9), Nadia Akawi(8), Aisha Al‐Shamsi(8), Salma Ben‐Salem(6), Alexandra Kourakli(5), Argiris Symeonidis(5), Argyro Sgourou(5), Adamantia Papachatzopoulou(5), Kyriaki Kydonopoulou(4), Spyridon Gerou(4), Hanadi A. Abdelrahman(4), Amanat Ali(4), Jozef Hertecant(3), Thachillath Pramathan(3), Αλεξάνδρα Κολλιοπούλου(3), Stavroula Siamoglou(3)