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Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

Genes, 2024-05, Vol.15 (5), p.619

2024

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Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

American journal of human genetics, 2012-07, Vol.91 (1), p.146-151

2012

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Orexin Receptor Multimerization versus Functional Interactions: Neuropharmacological Implications for Opioid and Cannabinoid Signalling and Pharmacogenetics

Pharmaceuticals (Basel, Switzerland), 2017-10, Vol.10 (4), p.79

2017

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OX1 and OX2 orexin/hypocretin receptor pharmacogenetics

Frontiers in neuroscience, 2014-05, Vol.8, p.57-57

2014

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Antiseizure effects of the cannabinoids in the amygdala‐kindling model

Epilepsia (Copenhagen), 2021-09, Vol.62 (9), p.2274-2282

2021

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Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Orphanet journal of rare diseases, 2020-02, Vol.15 (1), p.40-40, Article 40

2020

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Variation in the Serotonin Transporter Gene and Alcoholism: Risk and Response to Pharmacotherapy

Alcohol and alcoholism (Oxford), 2016-03, Vol.51 (2), p.164-171

2016

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G protein-coupled receptor (GPCR) gene variants and human genetic disease

Critical reviews in clinical laboratory sciences, 2024-03, p.1-30

2024

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Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity

Human mutation, 2016-07, Vol.37 (7), p.621-621

2016

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Cysteinyl Leukotrienes Pathway Genes, Atopic Asthma and Drug Response: From Population Isolates to Large Genome-Wide Association Studies

Frontiers in pharmacology, 2016-12, Vol.7, p.299-299

2016

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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

American journal of human genetics, 2018-10, Vol.103 (4), p.602-611

2018

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G protein-coupled receptor mutations and human genetic disease

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1175, p.153

2014

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Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)

Genes, 2023-01, Vol.14 (2), p.359

2023

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Cysteinyl-leukotrienes and their receptors in asthma and other inflammatory diseases: Critical update and emerging trends

Medicinal research reviews, 2007-07, Vol.27 (4), p.469-527

2007

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Vitamin B₁₂ and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population

Epidemiology (Cambridge, Mass.), 2007-05, Vol.18 (3), p.362-366

2007

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Human mutation, 2016-08, Vol.37 (8), p.737-744

2016

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Acceptance and Related Processes in Adjustment to Chronic Pain

Current pain and headache reports, 2011-04, Vol.15 (2), p.144-151

2011

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Cellular signalling of cysteinyl leukotriene type 1 receptor variants CysLT1 -G300S and CysLT1 -I206S

Prostaglandins, leukotrienes and essential fatty acids, 2016-02, Vol.105, p.1-8

2016

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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

European journal of medical genetics, 2020-04, Vol.63 (4), p.103822-103822, Article 103822

2020

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Pharmacogenetics of the G protein-coupled receptors

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1175, p.189

2014

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G protein-coupled receptor accessory proteins and signaling: pharmacogenomic insights

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1175, p.121

2014

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9. The anticonvulsant effects of cannabidiol examined in animal seizure models

Clinical neurophysiology, 2016-04, Vol.127 (4), p.e164-e164

2016

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Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome

Sub-cellular biochemistry, 2015, Vol.76, p.343

2015

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Vitamin B-12 and neural tube defects: the Canadian experience

The American journal of clinical nutrition, 2009-02, Vol.89 (2), p.697S-701S

2009

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Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Orexin Receptor Multimerization versus Functional Interactions: Neuropharmacological Implications for Opioid and Cannabinoid Signalling and Pharmacogenetics

OX1 and OX2 orexin/hypocretin receptor pharmacogenetics

Antiseizure effects of the cannabinoids in the amygdala‐kindling model

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Variation in the Serotonin Transporter Gene and Alcoholism: Risk and Response to Pharmacotherapy

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

G protein-coupled receptor (GPCR) gene variants and human genetic disease

Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity

Cysteinyl Leukotrienes Pathway Genes, Atopic Asthma and Drug Response: From Population Isolates to Large Genome-Wide Association Studies

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

G protein-coupled receptor mutations and human genetic disease

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)

Cysteinyl-leukotrienes and their receptors in asthma and other inflammatory diseases: Critical update and emerging trends

Vitamin B₁₂ and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Acceptance and Related Processes in Adjustment to Chronic Pain

Cellular signalling of cysteinyl leukotriene type 1 receptor variants CysLT1 -G300S and CysLT1 -I206S

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

Pharmacogenetics of the G protein-coupled receptors

G protein-coupled receptor accessory proteins and signaling: pharmacogenomic insights

9. The anticonvulsant effects of cannabidiol examined in animal seizure models

Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome

Vitamin B-12 and neural tube defects: the Canadian experience

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