about
Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesisComparative evolutionary analysis of VPS33 homologues: genetic and functional insightsMutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationMutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromeCargos and genes: insights into vesicular transport from inherited human diseaseA locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical reviewDiagnostic workup and management of patients with suspected Niemann-Pick type C diseasePerinatal systemic gene delivery using adeno-associated viral vectorsGenetic and laboratory diagnostic approach in Niemann Pick disease type CMutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaOptimization of Liver Decellularization Maintains Extracellular Matrix Micro-Architecture and Composition Predisposing to Effective Cell SeedingMutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeRegulation of post-Golgi LH3 trafficking is essential for collagen homeostasisIntentional overdose of warfarin in an adolescent: need for follow upVPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytesMice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet functionWhole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defectsMutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delayExpanding the phenotype in argininosuccinic aciduria: need for new therapies.α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP productionGene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental studyMutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.Loss-of-function mutations in RAB18 cause Warburg micro syndrome.MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantationMutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.Structural and functional hepatocyte polarity and liver disease.A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
P50
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P50
description
Forscher
@de
chercheur
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investigador
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researcher
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wetenschapper
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հետազոտող
@hy
研究者
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name
Paul Gissen
@ast
Paul Gissen
@en
Paul Gissen
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Paul Gissen
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type
label
Paul Gissen
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Paul Gissen
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Paul Gissen
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Paul Gissen
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altLabel
Pavel Leonidovich Gissen
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prefLabel
Paul Gissen
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Paul Gissen
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Paul Gissen
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Paul Gissen
@nl
P106
P1153
6602308059
P31
P496
0000-0002-9712-6122