Affiliation: University of Birmingham
- MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantationJames E Davison
Birmingham Children s Hospital NHS Foundation Trust, Birmingham, UK
Orphanet J Rare Dis 6:19. 2011..The present study utilises quantitative magnetic resonance spectroscopy (MRS) to investigate brain metabolite alterations in propionic acidaemia during metabolic stability and acute encephalopathic episodes...
- Cargos and genes: insights into vesicular transport from inherited human diseasePaul Gissen
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research West, Edgbaston, Birmingham, B15 2TT, UK
J Med Genet 44:545-55. 2007....
- Clinical and molecular genetic features of ARC syndromePaul Gissen
Section of Medical and Molecular Genetics, Norton Court, Birmingham Women s Hospital, University of Birmingham, B15 2TG, Edgbaston, Birmingham, UK
Hum Genet 120:396-409. 2006..In conclusion we state that molecular diagnosis is possible for most children in whom ARC syndrome is suspected and VPS33B mutation analysis should replace organ biopsy as a first line diagnostic test for ARC syndrome...
- Ophthalmic follow-up of patients with tyrosinaemia type I on NTBCP Gissen
Liver Unit, Birmingham Children s Hospital, Birmingham, UK
J Inherit Metab Dis 26:13-6. 2003..Despite high plasma tyrosine concentrations in some patients, they did not experience symptoms or signs of ocular toxicity...
- Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarizationAndrew R Cullinane
Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
Nat Genet 42:303-12. 2010..The VPS33B-VIPAR complex thus has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney...
- Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndromePaul Gissen
Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children s Hospital, UK
Nat Genet 36:400-4. 2004..VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion...
- Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromesC A Johnson
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
J Med Genet 40:311-9. 2003..We review recent molecular advances in the recessive HRFC syndromes and discuss this hypothesis...
- Molecular investigations to improve diagnostic accuracy in patients with ARC syndromeAndrew R Cullinane
Department of Medical and Molecular Genetics, University of Birmingham, Birmingham, UK
Hum Mutat 30:E330-7. 2009..5 years. Thus we show that all patients with a classical clinical course of ARC had decreased expression of VPS33B whereas normal VPS33B expression was associated with good prognosis despite initial diagnosis of ARC...
- The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratUrsula M Smith
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
Nat Genet 38:191-6. 2006..It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin...
- Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)M A Kurian
Department of Pediatric Neurology, Birmingham Children s Hospital, Birmingham, UK
Neurology 70:1623-9. 2008..Previously, children with PLA2G6 mutations have been diagnosed with several different disorders and we wished to better define the phenotype of PLA2G6- associated neurodegeneration...
- A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24Neil V Morgan
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham, B15 2TT, UK
Hum Genet 111:456-61. 2002..Comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2-linked kindreds suggests that polydactyly (and possibly encephalocele) appear less common in MKS3-linked families...
- Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman diseaseNeil V Morgan
Wellchild Paediatric Research Centre and Department of Medical and Molecular Genetics, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, United Kingdom
PLoS Genet 6:e1000833. 2010..Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder...
- Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeIrene A Aligianis
Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK
Nat Genet 37:221-3. 2005..We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors...
- Comparative evolutionary analysis of VPS33 homologues: genetic and functional insightsPaul Gissen
Section of Medical and Molecular Genetic, University of Birmingham, UK
Hum Mol Genet 14:1261-70. 2005..These investigations are consistent with the hypothesis that there are two functional classes of Vps33p homologues in all multicellular organisms and that the two classes reflect the evolution of organelle/tissue-specific functions...
- Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathyManju A Kurian
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, UK
Brain 133:2964-70. 2010..Thus, the discovery of a phospholipase C-β 1 mutation allows us to propose a novel potential underlying mechanism in early-onset epileptic encephalopathy...
- Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)Jane Louise Hartley
Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental School, Institute of Biomedical Research, Edgbaston, Birmingham, UK
Gastroenterology 138:2388-98, 2398.e1-2. 2010..We attempted to characterize the phenotype and elucidate the molecular basis of THES...
- PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan
Section of Medical and Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK
Nat Genet 38:752-4. 2006..This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis...
- Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystoniaManju A Kurian
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, United Kingdom
J Clin Invest 119:1595-603. 2009..Identification of the molecular basis of IPD suggests SLC6A3 as a candidate susceptibility gene for other movement disorders associated with parkinsonism and/or dystonic features...
- Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesisBryan Lo
Department of Paediatrics, Division of Clinical and Metabolic Genetics, Programme in Cell Biology, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, M5G 1X8, Canada
Blood 106:4159-66. 2005..We conclude that like other Sec1/Munc18 proteins, VPS33B is involved in intracellular vesicle trafficking, being essential for the development of platelet alpha-granules but not for granule secretion...
- Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6Randolph P Matthews
Division of Gastroenterology and Nutrition, The Children s Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Development 132:5295-306. 2005..Furthermore, they show that tissue-specific roles for genes that regulate trafficking of intracellular proteins have been modified during vertebrate evolution...
- A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birthDoris Taha
Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia
Am J Med Genet A 143:2835-7. 2007