Anne John

Al Ain, AZ, United Arab Emirates

Last Updated: 09/26/2026

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Found 44 publications

Evaluation of the cellular impact of missense variants in low-density lipoprotein receptor-related protein 6 (LRP6) associated with cardiovascular diseases in HeLa and HEK293T cell lines.

Evaluation of the cellular impact of missense variants in low-density lipoprotein receptor-related protein 6 (LRP6) associated with cardiovascular diseases in HeLa and HEK293T cell lines.

Journal: Frontiers in cell and developmental biology

Published: March 12, 2026

Combined Role of CYP3A4 and CYP3A5 genetic variants in tacrolimus dose-adjusted trough levels: a clinical retrospective study in kidney transplant patients.

Combined Role of CYP3A4 and CYP3A5 genetic variants in tacrolimus dose-adjusted trough levels: a clinical retrospective study in kidney transplant patients.

Journal: The pharmacogenomics journal

Published: March 10, 2025

Impact of CYP3A4 and ABCB1 genetic variants on tacrolimus dosing in Greek kidney transplant recipients.

Impact of CYP3A4 and ABCB1 genetic variants on tacrolimus dosing in Greek kidney transplant recipients.

Journal: Frontiers in pharmacology

Published: December 02, 2024

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.

Journal: Frontiers in cell and developmental biology

Published: April 04, 2024

Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients.

Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients.

Journal: Genes

Published: February 07, 2024

Spectrum of genetic variants in bilateral sensorineural hearing loss.

Spectrum of genetic variants in bilateral sensorineural hearing loss.

Journal: Frontiers in genetics

Published: October 10, 2023

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.

Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.

Journal: Frontiers in cell and developmental biology

Published: September 15, 2023

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Journal: Frontiers in genetics

Published: May 09, 2023

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.

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.

Journal: Frontiers in pediatrics

Published: March 10, 2023

GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model.

GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model.

Journal: Lipids in health and disease

Published: February 22, 2023

Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking.

Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking.

Journal: Human genomics

Published: February 10, 2022

Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Journal: Frontiers in molecular biosciences

Published: December 06, 2021

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Last Updated: 09/26/2026