Impact of GPCRs in clinical medicine: Monogenic diseases, genetic variants and drug targets
Data up to Jan 2025
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Abstract
References (129)
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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
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A common β1-adrenergic receptor polymorphism (Arg389Gly) affects blood pressure response to β-blockade
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Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression
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Nephrogenic Diabetes Insipidus
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DRD2 Promoter Region Variation as a Predictor of Sustained Response to Antipsychotic Medication in First-Episode Schizophrenia Patients
2006 • 151 citations
Weight gain associated with the −759C/T polymorphism of the 5HT2C receptor and olanzapine
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Gly389Arg polymorphism of β1-adrenergic receptor is associated with the cardiovascular response to metoprolol
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Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromes
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Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in theLRP5and/orFZD4genes
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2006 • 140 citations
Light in retinitis pigmentosa
2004 • 139 citations
The role of 5-HT2C receptor polymorphisms in the pharmacogenetics of antipsychotic drug treatment
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The evolutionary history of the CCR5-Δ32 HIV-resistance mutation
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Angiotensin II type 1 receptor gene polymorphism predicts response to losartan and angiotensin II
1999 • 126 citations
Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism
2005 • 124 citations
Haplotypes of G Protein–coupled Receptor 154 Are Associated with Childhood Allergy and Asthma
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Angiotensin converting enzyme gene polymorphism predicts blood pressure response to angiotensin II receptor type 1 antagonist treatment in hypertensive patients
2001 • 123 citations
An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population
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Polymorphism of the human beta3-adrenoceptor gene forms a well-conserved haplotype that is associated with moderate obesity and altered receptor function.
1999 • 115 citations
Population-Based Sample Reveals Gene–Gender Interactions in Blood Pressure in White Americans
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Why photoreceptors die (and why they don't)
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The Dopamine D2 Receptor: New Surprises from an Old Friend
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Ser49Gly of β-adrenergic receptor is associated with effective β-blocker dose in dilated cardiomyopathy
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GPCR deorphanizations: the novel, the known and the unexpected transmitters
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β2-adrenoceptor polymorphisms and asthma from childhood to middle age in the British 1958 birth cohort: a genetic association study
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??2-Adrenoceptor gene polymorphisms
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Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function
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Prolactin levels in antipsychotic treatment of patients with schizophrenia carrying the DRD2*A1 allele
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Dopamine D3 Receptor Ser9Gly Polymorphism and Risperidone Response
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Autoantibodies against the Beta- and Muscarinic Receptors in Cardiomyopathy
2000 • 73 citations
Pathogenesis of Hirschsprung’s disease and its variants: recent progress
2004 • 73 citations
Obesity-associated mutations in the human melanocortin-4 receptor gene
2005 • 70 citations
β1-Adrenergic Receptor Function, Autoimmunity, and Pathogenesis of Dilated Cardiomyopathy
2005 • 70 citations
Heterodimers of α1B- and α1D-Adrenergic Receptors Form a Single Functional Entity
2005 • 70 citations
GPCR Expression in the Heart “New” Receptors in Myocytes and Fibroblasts
2004 • 68 citations
Polymorphisms in the angiotensinogen and angiotensin II type 1 receptor gene are related to change in left ventricular mass during antihypertensive treatment: results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA) trial
2002 • 68 citations
High-Affinity Interactions between Human α1A-Adrenoceptor C-Terminal Splice Variants Produce Homo- and Heterodimers but Do Not Generate the α1L-Adrenoceptor
2004 • 67 citations
G protein–coupled receptor 154 gene polymorphism is associated with airway hyperresponsiveness to methacholine in a Chinese population
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2006 • 66 citations
Nephrogenic Diabetes Insipidus
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WHIM syndrome: A defect in CXCR4 signaling
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G Protein-Coupled Receptors and their Signaling Pathways: Classical Therapeutical Targets Susceptible to Novel Therapeutic Concepts
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Therapeutic Use of Calcimimetics
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From molecular biology to pharmacogenetics: a review of the literature on antidepressant treatment and suggestions of possible candidate genes
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A Hypocalcemic Child with a Novel Activating Mutation of the Calcium-Sensing Receptor Gene: Successful Treatment with Recombinant Human Parathyroid Hormone
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Receptors for Relaxin Family Peptides
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Impact of genetic polymorphisms in transmembrane carrier-systems on drug and xenobiotic distribution
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Cryptorchidism: an indicator of testicular dysgenesis?
2005 • 50 citations
Regular inhaled short acting 2 agonists for the management of stable chronic obstructive pulmonary disease: Cochrane systematic review and meta-analysis
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α1-Adrenoceptor Subtypes Differentially Couple to Growth Promotion and Inhibition in Chinese Hamster Ovary Cells
2000 • 46 citations
The significance of β2-adrenergic receptor polymorphisms in asthma
2005 • 42 citations
β1-Adrenergic Receptor Polymorphisms and Clinical Efficacy of Betaxolol Hydrochloride in Normal Volunteers
2005 • 40 citations
Subject Index to Volume 12
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Novel human α1a-adrenoceptor single nucleotide polymorphisms alter receptor pharmacology and biological function
2005 • 36 citations
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2001 • 34 citations
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Genetic variation in G-protein-coupled receptors – consequences for G-protein-coupled receptors as drug targets
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Stimulation of α1A-Adrenoceptors in Rat-1 Cells Inhibits Extracellular Signal-Regulated Kinase by Activating p38 Mitogen-Activated Protein Kinase
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Toward Precise Forecasting of Autoimmune Endocrinopathy
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Single nucleotide polymorphisms predict the change in left ventricular mass in response to antihypertensive treatment
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Heterodimers of alpha1B and alpha1D‐adrenergic receptors form a single functional entity
2006 • 26 citations
The rational use of β‐adrenoceptor blockers in the treatment of heart failure. The changing face of an old therapy
2000 • 24 citations
Molecular basis of Mendelian idiopathic epilepsies
2004 • 22 citations
Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation
2005 • 21 citations
Nephrogenic diabetes insipidus caused by mutation of Tyr205: A key residue of V2 vasopressin receptor function
2005 • 20 citations
The Molecular Mechanism of Human Resistance to HIV-1 Infectionin Persistently Infected Individuals—A Review, Hypothesis and Implications
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Hypertension pharmacogenomics: current status and future directions.
2005 • 19 citations
Enhanced cAMP Response of Naturally Occurring Mutant of Human β-Adrenergic Receptor
2002 • 16 citations
Molecular Mechanisms of Anti-G-protein-coupled Receptor Autoantibodies
2001 • 13 citations
Dissimilar Pharmacological Responses by a New Series of Imidazoline Derivatives at Precoupled and Ligand-Activated α2A-Adrenoceptor States: Evidence for Effector Pathway-Dependent Differential Antagonism
2003 • 13 citations
Polymorphisms in the α1A‐adrenoceptor gene do not modify the short‐ and long‐term efficacy of α1‐adrenoceptor antagonists in the treatment of benign prostatic hyperplasia
2006 • 12 citations
Receptor Databases and Computational Websites for Ligand Binding
2012 • 11 citations
Normal Cell Surface Expression and Selective Loss of Functions Resulting from Phe110 to Ser and Cys126 to Trp Substitutions in the Formyl Peptide Receptor
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Orphan GPCR target validation.
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Pathogenesis and Clinical Manifestation of Kaposi’s Sarcoma
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Receptor Databases and Computational Websites for Ligand Binding
2005 • 1 citations