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Pharmacogenetics in the evaluation of new drugs: a multiregional regulatory perspective

Nature reviews. Drug discovery, 2013-02, Vol.12 (2), p.103-115

2013

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Genetic analysis of the equine orthologues for human CYP2D6: unraveling the complexity of the CYP2D family in horses

Frontiers in veterinary science, 2023-10, Vol.10, p.1188633-1188633

2023

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Case report: metoclopramide induced acute dystonic reaction in adolescent CYP2D6 poor metabolizers

Frontiers in pharmacology, 2023-07, Vol.14, p.1201566

2023

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The Expression of CNS-Specific PPARGC1A Transcripts Is Regulated by Hypoxia and a Variable GT Repeat Polymorphism

Molecular neurobiology, 2020-02, Vol.57 (2), p.752-764

2020

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Interleukin-Mediated Pendrin Transcriptional Regulation in Airway and Esophageal Epithelia

International journal of molecular sciences, 2019-02, Vol.20 (3), p.731

2019

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The PPARGC1A locus and CNS-specific PGC-1α isoforms are associated with Parkinson's Disease

Neurobiology of disease, 2019-01, Vol.121, p.34-46

2019

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Selective Activation of CNS and Reference PPARGC1A Promoters Is Associated with Distinct Gene Programs Relevant for Neurodegenerative Diseases

International journal of molecular sciences, 2021-03, Vol.22 (7), p.3296

2021

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Effect of Known Inhibitors of Ion Transport on Pendrin (SLC26A4) Activity in a Human Kidney Cell Line

Cellular physiology and biochemistry, 2016-05, Vol.38 (5), p.1984-1998

2016

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Inhibition of the human respiratory syncytial virus small hydrophobic protein and structural variations in a bicelle environment

Journal of virology, 2014-10, Vol.88 (20), p.11899-11914

2014

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Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death

PloS one, 2017-06, Vol.12 (6), p.e0179591

2017

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Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

International journal of molecular sciences, 2018-01, Vol.19 (1), p.209

2018

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The Role of Pendrin in Health and Disease: Molecular and Functional Aspects of the SLC26A4 Anion Exchanger

1, 2017

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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Proceedings of the National Academy of Sciences - PNAS, 2008-11, Vol.105 (47), p.18608-18613

2008

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Accurately genotyping CYP2D6: not for the faint of heart

Pharmacogenomics, 2018-08, Vol.19 (13), p.999-1002

2018

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SARS-CoV-2 variants of concern surveillance including Omicron using RT-PCR–based genotyping offers comparable performance to whole genome sequencing

Frontiers in cellular and infection microbiology, 2022-11, Vol.12, p.960065-960065

2022

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Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation

The Journal of biological chemistry, 2010-07, Vol.285 (28), p.21724-21735

2010

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The 10th Santorini conference: Systems medicine, personalised health and therapy. "The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind ", Santorini, Greece, 23-26 May 2022

Frontiers in genetics, 2023-03, Vol.14, p.1171131-1171131

2023

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Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants

Molecular medicine (Cambridge, Mass.), 2016-01, Vol.22 (1), p.41-53

2016

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O -GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to α-Integrin

Frontiers in cell and developmental biology, 2020-11, Vol.8, p.607080

2020

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Interleukin-4 Induces CpG Site-Specific Demethylation of the Pendrin Promoter in Primary Human Bronchial Epithelial Cells

Cellular physiology and biochemistry, 2017-05, Vol.41 (4), p.1491-1502

2017

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Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D63 Genotyping Assays

Cellular physiology and biochemistry, 2017-01, Vol.43 (6), p.2297-2309

2017

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Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

Journal of molecular endocrinology, 2009-09, Vol.43 (3), p.93-103

2009

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A Potassium-Selective Current Affected by Micromolar Concentrations of Anion Transport Inhibitors

Cellular physiology and biochemistry, 2018-02, Vol.45 (3), p.867-882

2018

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Short- and Long- Term Effects of Cigarette Smoke Exposure on Glutathione Homeostasis in Human Bronchial Epithelial Cells

Cellular physiology and biochemistry, 2013-01, Vol.32 (1), p.129-145

2013

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Potential role of upstream stimulatory factor 1 gene variant in familial combined hyperlipidemia and related disorders

Arteriosclerosis, thrombosis, and vascular biology, 2012-06, Vol.32 (6), p.1535

2012

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Pharmacogenetics in the evaluation of new drugs: a multiregional regulatory perspective

Genetic analysis of the equine orthologues for human CYP2D6: unraveling the complexity of the CYP2D family in horses

Case report: metoclopramide induced acute dystonic reaction in adolescent CYP2D6 poor metabolizers

The Expression of CNS-Specific PPARGC1A Transcripts Is Regulated by Hypoxia and a Variable GT Repeat Polymorphism

Interleukin-Mediated Pendrin Transcriptional Regulation in Airway and Esophageal Epithelia

The PPARGC1A locus and CNS-specific PGC-1α isoforms are associated with Parkinson's Disease

Selective Activation of CNS and Reference PPARGC1A Promoters Is Associated with Distinct Gene Programs Relevant for Neurodegenerative Diseases

Effect of Known Inhibitors of Ion Transport on Pendrin (SLC26A4) Activity in a Human Kidney Cell Line

Inhibition of the human respiratory syncytial virus small hydrophobic protein and structural variations in a bicelle environment

Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death

Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria

The Role of Pendrin in Health and Disease: Molecular and Functional Aspects of the SLC26A4 Anion Exchanger

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

Accurately genotyping CYP2D6: not for the faint of heart

SARS-CoV-2 variants of concern surveillance including Omicron using RT-PCR–based genotyping offers comparable performance to whole genome sequencing

Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation

The 10th Santorini conference: Systems medicine, personalised health and therapy. "The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind ", Santorini, Greece, 23-26 May 2022

Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants

O -GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to α-Integrin

Interleukin-4 Induces CpG Site-Specific Demethylation of the Pendrin Promoter in Primary Human Bronchial Epithelial Cells

Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D63 Genotyping Assays

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

A Potassium-Selective Current Affected by Micromolar Concentrations of Anion Transport Inhibitors

Short- and Long- Term Effects of Cigarette Smoke Exposure on Glutathione Homeostasis in Human Bronchial Epithelial Cells

Potential role of upstream stimulatory factor 1 gene variant in familial combined hyperlipidemia and related disorders

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