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Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

Human molecular genetics, 2014-05, Vol.23 (10), p.2527-2541

2014

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The genetic basis for most patients with pustular skin disease remains elusive

British journal of dermatology (1951), 2018-03, Vol.178 (3), p.740-748

2018

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Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

European heart journal, 2011-05, Vol.32 (9), p.1077-1088

2011

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The chemical class of quinazoline compounds provides a core structure for the design of anticytomegaloviral kinase inhibitors

Antiviral research, 2016-10, Vol.134, p.130-143

2016

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The interleukin-10 family of cytokines

Trends in Immunology, 2002-02, Vol.23 (2), p.89-96

2002

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Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes

Rheumatology international, 2018, Vol.38 (1), p.111-120

2018

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Relevance of conserved lysine and arginine residues in transmembrane helices for the transport activity of organic anion transporting polypeptide 1B3

British journal of pharmacology, 2010-02, Vol.159 (3), p.698-708

2010

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Journal of medical genetics, 2008-11, Vol.45 (11), p.738-744

2008

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Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld–Rieger syndrome and glaucoma

Gene, 2015-08, Vol.568 (1), p.76-80

2015

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Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta

Current molecular medicine, 2012-02, Vol.12 (2), p.199

2012

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PP133—Pharmacogenetics of the human serotonin transporter

Clinical therapeutics, 2013-08, Vol.35 (8), p.e57-e57

2013

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Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Molecular syndromology, 2010-09, Vol.1 (3), p.99-112

2010

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Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis

Journal of investigative dermatology, 2020-07, Vol.140 (7), p.1451-1455.e13

2020

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Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

Cilia (London), 2015-07, Vol.4 (S1), p.P59-P59, Article P59

2015

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AMBER force-field parameters for phosphorylated amino acids in different protonation states: phosphoserine, phosphothreonine, phosphotyrosine, and phosphohistidine

Journal of molecular modeling, 2006-02, Vol.12 (3), p.281-289

2006

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Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy

Journal of neurogenetics, 2011-12, Vol.25 (4), p.182-188

2011

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Estrogen and progesterone receptors: from molecular structures to clinical targets

Cellular and molecular life sciences : CMLS, 2009-08, Vol.66 (15), p.2405-2426

2009

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Variants in ASB10 are associated with open-angle glaucoma

Human molecular genetics, 2012-03, Vol.21 (6), p.1336-1349

2012

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The T-cell Lymphokine Interleukin-26 Targets Epithelial Cells through the Interleukin-20 Receptor 1 and Interleukin-10 Receptor 2 Chains

The Journal of biological chemistry, 2004-08, Vol.279 (32), p.33343-33351

2004

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A proline to glycine mutation in the Lck SH3-domain affects conformational sampling and increases ligand binding affinity

FEBS letters, 2007-04, Vol.581 (8), p.1555-1560

2007

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Two isoforms of the protein kinase pUL97 of human cytomegalovirus are differentially regulated in their nuclear translocation

Journal of general virology, 2011-03, Vol.92 (Pt 3), p.638-649

2011

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Analysis of the Structure−Activity Relationship of Four Herpesviral UL97 Subfamily Protein Kinases Reveals Partial but not Full Functional Conservation

Journal of medicinal chemistry, 2006-11, Vol.49 (24), p.7044-7053

2006

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Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

American journal of human genetics, 2005-11, Vol.77 (5), p.795-806

2005

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Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

Human mutation, 2008-09, Vol.29 (9), p.1147-1153

2008

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Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

The genetic basis for most patients with pustular skin disease remains elusive

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

The chemical class of quinazoline compounds provides a core structure for the design of anticytomegaloviral kinase inhibitors

The interleukin-10 family of cytokines

Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes

Relevance of conserved lysine and arginine residues in transmembrane helices for the transport activity of organic anion transporting polypeptide 1B3

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld–Rieger syndrome and glaucoma

Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta

PP133—Pharmacogenetics of the human serotonin transporter

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

AMBER force-field parameters for phosphorylated amino acids in different protonation states: phosphoserine, phosphothreonine, phosphotyrosine, and phosphohistidine

Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy

Estrogen and progesterone receptors: from molecular structures to clinical targets

Variants in ASB10 are associated with open-angle glaucoma

The T-cell Lymphokine Interleukin-26 Targets Epithelial Cells through the Interleukin-20 Receptor 1 and Interleukin-10 Receptor 2 Chains

A proline to glycine mutation in the Lck SH3-domain affects conformational sampling and increases ligand binding affinity

Two isoforms of the protein kinase pUL97 of human cytomegalovirus are differentially regulated in their nuclear translocation

Analysis of the Structure−Activity Relationship of Four Herpesviral UL97 Subfamily Protein Kinases Reveals Partial but not Full Functional Conservation

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme

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