Research Topics
Genomes and Genes
| E R MaherSummaryAffiliation: University of Birmingham Country: UK Publications
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Detail Information
Publications
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologiesDerek Lim
Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham B15 2TT, UK
Hum Reprod 24:741-7. 2009..5 imprinting control regions (IC1 and IC2). Previously, we and other reported an association between sporadic BWS and assisted reproductive technologies (ARTs)...- A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorptionEsther Meyer
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
Mol Genet Metab 99:325-8. 2010..194dupG) at a mononucleotide repeat in exon 1 predicted to result in a truncated protein (p.Cys66LeufsX99). This report extends current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum... - CpG methylation profiling in VHL related and VHL unrelated renal cell carcinomaFiona E McRonald
Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham, UK
Mol Cancer 8:31. 2009.... - A genome-wide screen identifies frequently methylated genes in haematological and epithelial cancersThomas Dunwell
Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B152TT, UK
Mol Cancer 9:44. 2010..High throughput screens are required to identify epigenetic markers that can be useful for diagnostic and prognostic purposes across malignancies... - The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemiasLuke B Hesson
Department of Medical and Molecular Genetics, Institute of Biomedical Research, Medical School, University of Birmingham, Edgbaston, B15 2TT, UK
Mol Cancer 8:42. 2009..We also determined the methylation status of CpG islands associated with RASSF1-10 in a series of childhood acute lymphocytic leukaemias (ALL) and normal blood and bone marrow samples... - Identification of 5 novel genes methylated in breast and other epithelial cancersVictoria K Hill
Department of Medical and Molecular Genetics, University of Birmingham, UK
Mol Cancer 9:51. 2010..We utilized one such recently developed approach, MIRA (methylated-CpG island recovery assay) combined with CpG island arrays to identify novel genes that are epigenetically inactivated in breast cancer... - Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeuticsMark R Morris
Renal Molecular Oncology Group, Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK
Genome Med 2:59. 2010..Increased understanding of RCC epigenetics provides new insights into the molecular pathogenesis of RCC and opportunities for developing novel strategies for the diagnosis, prognosis and management of RCC... - Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriersAntonis C Antoniou
CR UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, University of Cambridge, Cambridge, CB1 8RN, UK
Breast Cancer Res 8:R72. 2006..However, their effects among BRCA1 and BRCA2 mutation carriers is still under debate. We used retrospective data on BRCA1 and BRCA2 mutation carriers from the UK to assess the effects of parity-related variables on breast cancer risk... - Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disordersClare N Lynex
Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James s University Hospital, Leeds, UK
BMC Neurol 4:20. 2004..We recently described the mapping of a recessive spastic CP locus to a 5 cM chromosomal region located at 2q24-31.1, in rare consanguineous families... - Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the familyD Gareth Evans
Academic Unit of Medical Genetics and Regional Genetics Service, St Mary s Hospital Manchester M13 0JH, UK
BMC Cancer 8:155. 2008..However, considerable controversy exists regarding the cancer risks in women who test positive for the family mutation... - Genetics of familial renal cancersEamonn R Maher
University of Birmingham Centre for Rare Diseases and Personalised Medicine and Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK
Nephron Exp Nephrol 118:e21-6. 2011..The identification of molecular mechanisms of carcinogenesis in inherited RCC syndromes should lead to novel approaches to personalized therapeutics... - Von Hippel-Lindau diseaseEamonn R Maher
Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK
Curr Mol Med 4:833-42. 2004..Such information offers prospects of novel therapeutic interventions for VHL disease and common cancers including RCC... - von Hippel-Lindau disease: a clinical and scientific reviewEamonn R Maher
Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Institute of Biomedical Research, Birmingham, UK
Eur J Hum Genet 19:617-23. 2011..Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies... - Imprinting and assisted reproductive technologyEamonn R Maher
Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK
Hum Mol Genet 14:R133-8. 2005.... - Genetics of phaeochromocytomaEamonn R Maher
Section of Medical and Molecular Genetics, University of Birmingham School of Medicine and West Midlands Regional Genetics Service, Birmingham, UK
Br Med Bull 79:141-51. 2006..Recent studies have also provided clues to the molecular pathogenesis of phaeochromocytoma development in familial cases and suggest that this differs from that seen in sporadic non-inherited cases... - Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?Eamonn R Maher
Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham, UK
Hum Reprod 18:2508-11. 2003..Addressing these questions should be a priority for research on cohorts of ART children... - Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau diseaseS C Clifford
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Hum Mol Genet 10:1029-38. 2001..Our findings are consistent with impaired ability to degrade HIF-alpha subunit being required for HAB development and RCC susceptibility... - RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumoursD Astuti
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham, B15 2TT, UK
Oncogene 20:7573-7. 2001..3 neuroblastoma TSG and (b) a subset of neuroblastomas may be characterized by a CpG island methylator phenotype... - Epigenetic inactivation of the RASSF1A 3p21.3 tumor suppressor gene in both clear cell and papillary renal cell carcinomaC Morrissey
Section of Medical and Molecular Genetics, Department of Pediatrics and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, United Kingdom
Cancer Res 61:7277-81. 2001.... - Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinomaM R Morris
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
J Clin Pathol 57:706-11. 2004..RESULTS: No mutations were identified in the three genes investigated. CONCLUSIONS: There was no evidence to suggest that somatic mutations occur in the FH, FIH-1, or SDHB TSGs in sporadic RCCs... - Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumoursA Agathanggelou
Section of Medical and Molecular Genetics, Department of Reproductive and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham, B15 2TT, UK
Oncogene 20:1509-18. 2001.... - Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumourD Astuti
Department of Paediatrics and Child Health, Section of Medical and Molecular Genetics, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Br J Cancer 92:1574-80. 2005..GTL2 promoter and intergenic DMR hypermethylation is associated with the loss of GTL2 expression and this may contribute to tumorigenesis in a subset of human cancers... - Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinomaM R Morris
Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham, UK
Oncogene 29:2104-17. 2010..The identification of these epigenetically inactivated candidate RCC TSGs can provide insights into renal tumourigenesis and a basis for developing novel therapies and biomarkers for prognosis and detection... - The pVHL-associated SCF ubiquitin ligase complex: molecular genetic analysis of elongin B and C, Rbx1 and HIF-1alpha in renal cell carcinomaS C Clifford
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham, B15 2TT, UK
Oncogene 20:5067-74. 2001..HIF response is activated in CC-RCC tumorigenesis... - Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinomaM R Morris
Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham B15 2TT, UK
Br J Cancer 98:496-501. 2008.... - Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastomaD Astuti
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Br J Cancer 91:1835-41. 2004.... - Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancerW N Cooper
Department of Medical and Molecular Genetics, Division of Reproductive and Child Health, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, UK
Oncogene 27:1805-11. 2008..We have identified RASSF2 as a novel methylation marker for multiple malignancies and it has the potential to be developed into a valuable marker for screening several cancers in parallel using promoter hypermethylation profiles... - Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomasC D E Margetts
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Endocr Relat Cancer 12:161-72. 2005..001). This suggests that 11p15.5-imprinted genes may be implicated in the pathogenesis of both familial (germline VHL and SDHD mutations) and sporadic phaeochromocytomas... - Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancerN Fernandes da Silva
Cancer Research UK Renal Molecular Oncology Research Group, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
J Med Genet 40:820-4. 2003..These findings suggest that BHD inactivation occurs in a subset of clear cell RCC and CRC... - Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancerMichael S Nahorski
Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK
J Med Genet 47:385-90. 2010..CONCLUSIONS These findings suggest that the previously reported clinical heterogeneity for colorectal neoplasia may reflect allelic heterogeneity and the risk of colorectal neoplasia in BHD syndrome requires further investigation... - Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoterM Zatyka
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
J Med Genet 39:463-72. 2002.... - Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesisV K Hill
Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
Oncogene 30:978-89. 2011..This is the first report demonstrating that RASSF10 can act as a tumor suppressor gene and is frequently methylated in gliomas and can potentially be developed into a prognostic marker for sGBM... - Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinomaR P Hogg
Department of Paediatrics and Child Health, Section of Medical and Molecular Genetics, The Medical School, University of Birmingham, Edgbaston, B15 2TT, Birmingham, UK
Eur J Cancer 38:1585-92. 2002..Furthermore, in the presence of homozygous inactivation of other 3p TSGs, RASSF1A haploinsufficiency might be sufficient to promote tumourigenesis in many HNSCC... - SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinomaD Astuti
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Br J Cancer 90:515-21. 2004..However, epigenetic inactivation of SLIT2 is less frequent than RASSF1A in the tumour types analysed... - Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paragangliomaD Astuti
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, United Kingdom
Am J Hum Genet 69:49-54. 2001..These findings extend the link between mitochondrial dysfunction and tumorigenesis and suggest that germline SDHB mutations are an important cause of pheochromocytoma susceptibility... - Genomic organization and chromosomal localization of the human CUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma developmentS C Clifford
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham, U K
Genes Chromosomes Cancer 26:20-8. 1999..These findings suggest that unless CUL2 is inactivated by epigenetic events, it is not a major RCC TSG. However, CUL2 remains a candidate TSG for other tumor types demonstrating 10p LOH. Genes Chromosomes Cancer 26:20-28, 1999... - Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinomaM R Morris
Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Birmingham, UK
Oncogene 30:1390-401. 2011..Tumour methylation of SCUBE3 was associated with a significantly increased risk of cancer death or relapse (P=0.0046). The identification of candidate epigenetically inactivated RCC TSGs provides new insights into renal tumourigenesis... - The genetics of paragangliomas: a reviewT P C Martin
Specialist Registrar, ENT West Midlands Deanery, Birmingham, West Midlands, UK
Clin Otolaryngol 32:7-11. 2007..Patients who present with a family history of paraganglioma or phaeochromocytoma, with multiple tumours, or early onset tumours (<50 years), should be referred for genetic investigation... - Genotype-phenotype correlations in VHL exon deletionsAlisdair McNeill
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
Am J Med Genet A 149:2147-51. 2009..These results add to the growing body of evidence suggesting that patients with VHL syndrome caused by large VHL deletions that include C3orf10 may be designated as having a specific subtype (Type 1B) of the disorder... - Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancersR E Dickinson
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
Br J Cancer 91:2071-8. 2004..Hence, evidence is accumulating for the involvement of members of the guidance cues molecules and their receptors in tumour development... - 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... - Identification of novel VHL targets that are associated with the development of renal cell carcinomaM Abdulrahman
Department of Medical and Molecular Genetics, University of Birmingham, The Medical School, Birmingham, UK
Oncogene 26:1661-72. 2007..These findings implicate TMSNB and PAR2 candidate oncogenes in the pathogenesis of VHL-associated RCC... - Chromosome 3p allele loss in early invasive breast cancer: detailed mapping and association with clinicopathological featuresA Martinez
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Mol Pathol 54:300-6. 2001..0098) and oestrogen (p = 0.0472) receptor expression, indicating a link between 3p allelic loss and the regulation of differentiation... - Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)I A Aligianis
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
J Med Genet 39:656-60. 2002..To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis... - Microsatellite instability and mutational analysis of transforming growth factor beta receptor type II gene (TGFBR2) in sporadic ovarian cancerA J Alvi
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, UK
Mol Pathol 54:240-3. 2001..The spurious TGFBR2 frameshift mutations detected by sequencing after conventional PCR underline the importance of confirming putative mutations in repetitive sequences by alternative methods... - 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... - Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts
Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Birmingham, United Kingdom
Hum Mutat 31:41-51. 2010..The differing effect of the SDHD p.Pro81Leu on HNPGL and pheochromocytoma risks suggests differing mechanisms of tumorigenesis in SDH-associated HNPGL and pheochromocytoma... - Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Esther Meyer
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK
Am J Hum Genet 86:471-8. 2010..This is the first gene to be associated with Fowler syndrome, and this finding provides a basis for further studies to elucidate the pathogenetic mechanisms and phenotypic spectrum of associated disorders... - Germline SDHB mutations and familial renal cell carcinomaChristopher Ricketts
Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK
J Natl Cancer Inst 100:1260-2. 2008.... - Identification of novel VHL target genes and relationship to hypoxic response pathwaysEsther N Maina
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
Oncogene 24:4549-58. 2005..These provide insights into mechanisms of pVHL tumour suppressor function and identify novel hypoxia-responsive targets that might be implicated in tumorigenesis in both VHL disease and in other cancers with HIF upregulation... - Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like diseaseE Meyer
Department of Medical and Molecular Genetics, Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, UK
Mol Genet Metab 104:637-43. 2011..We propose that diagnostic screening of GJC2 should include sequence analysis of the non-coding exon 1, as well as the coding regions to avoid misdiagnosis or diagnostic delay in suspected PMLD... - Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancerA J Alvi
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, UK
Mol Pathol 55:153-5. 2002..CONCLUSIONS: Genetic alterations in the RB2/p130 gene (exons 19-22) are unlikely to be involved directly in the pathogenesis of sporadic ovarian cancer or HNSCC... - Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlationW W Lam
Department of Paediatrics and Child Health, University of Birmingham, UK
J Med Genet 36:518-23. 1999.... - Germline mutation in DOK7 associated with fetal akinesia deformation sequenceJ Vogt
Department of Medical and Molecular Genetics and WellChild Paediatric Research Centre, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
J Med Genet 46:338-40. 2009.... - Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibilityDewi Astuti
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham, UK
Clin Endocrinol (Oxf) 59:728-33. 2003..CONCLUSION: The significantly lower frequency (P = 0.028) of germline SDH subunit mutations in familial PC only cases compared to those with familial PC and HNPGL suggests that further PC susceptibility gene(s) remain to be identified... - Tumour specific promoter region methylation of the human homologue of the Drosophila Roundabout gene DUTT1 (ROBO1) in human cancersAshraf Dallol
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Oncogene 21:3020-8. 2002..Our findings suggest that DUTT1 warrants further analysis as a candidate for the tumour suppressor gene (TSG) at 3p12, a region defined by hemi and homozygous deletions and functional analysis... - Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau diseaseMalgorzata Zatyka
Section of Medical and Molecular Genetics, Department of Pediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, United Kingdom
Cancer Res 62:3803-11. 2002..05). These findings suggest that a variety of HIF-independent mechanisms may contribute to pVHL tumor suppressor activity and that polymorphic variation at one pVHL target influences the phenotypic expression of VHL disease... - Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastomaCaroline D E Margetts
Department of Medical and Molecular Genetics, Institute of Biomedical Research Cancer Research, UK
Endocr Relat Cancer 15:777-86. 2008..These findings extend epigenotype of phaeochromocytoma and identify candidate genes implicated in sporadic phaeochromocytoma tumourigenesis... - The pressure rises: update on the genetics of phaeochromocytomaEamonn R Maher
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, School of Medicine, University of Birmingham and West Midlands Genetics Service, Birmingham, UK
Hum Mol Genet 11:2347-54. 2002..The mechanism by which SDH subunit mutations predispose to phaeochromocytomas has not been defined in detail, but dysregulation of hypoxia-responsive genes and impairment of mitochondria-mediated apoptosis have both been suggested... - Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinomaMark R Morris
Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Edgbaston, United Kingdom
Cancer Res 65:4598-606. 2005..This information provides opportunities to develop novel targeted approaches to the treatment of RCC... - 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... - Von Hippel-Lindau disease: clinical and molecular perspectivesS C Clifford
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham, B15 2TT, United Kingdom
Adv Cancer Res 82:85-105. 2001..Clinical and laboratory studies of VHL disease have provided a paradigm for demonstrating the importance of familial cancer syndromes in elucidating mechanisms of tumorigenesis in familial and sporadic cancer... - A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13N V Morgan
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
J Med Genet 40:431-5. 2003..Families with both mild and severe forms of ATD mapped to 15q13, but mutation analysis of two candidate genes, GREMLIN and FORMIN, did not show pathogenic mutations... - Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidismHakan Cangul
Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
Clin Endocrinol (Oxf) 73:671-7. 2010..We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG... - Endometriosis and the neoplastic processRajesh Varma
Section of Medical and Molecular Genetics, Birmingham Women s Hospital, Birmingham, UK
Reproduction 127:293-304. 2004.... - Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinomaMark R Morris
Department of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, B15 2TT, UK
Anticancer Res 29:4337-43. 2009..Loss of HIF-1alpha expression has been described in RCC cell lines and primary tumours. Whether mutations in the alpha-subunits of HIF-1alpha and HIF-2alpha contribute to renal tumourigenesis was investigated here... - 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... - Depletion of the Ras association domain family 1, isoform A-associated novel microtubule-associated protein, C19ORF5/MAP1S, causes mitotic abnormalitiesAshraf Dallol
Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, United Kingdom
Cancer Res 67:492-500. 2007.... - Frequent epigenetic inactivation of RASSF1A and BLU genes located within the critical 3p21.3 region in gliomasLuke Hesson
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK
Oncogene 23:2408-19. 2004..In addition, RASSF1A and BLU methylation appear to be independent and specific events and not due to region-wide changes in DNA methylation... - Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutationsTim Forshew
Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK
Hum Genet 117:452-9. 2005..These findings confirm that mutations in HSF4 may result in both autosomal dominant and autosomal recessive congenital cataract, and highlight the locus heterogeneity in autosomal recessive congenital cataract... - RAN GTPase is a RASSF1A effector involved in controlling microtubule organizationAshraf Dallol
Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
Curr Biol 19:1227-32. 2009..These findings reveal a mechanism for how RASSF1A controls microtubule stability and for how its loss compromises the integrity of the mitotic spindle, leading to aneuploidy and tumorigenesis... - 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.... - Genotype-phenotype correlations in von Hippel-Lindau diseaseKai Ren Ong
Department of Clinical Genetics, Birmingham Women s Hospital, Edgbaston, Birmingham, United Kingdom
Hum Mutat 28:143-9. 2007..These results extend genotype-phenotype-protein structure correlations in VHL disease and provide a baseline for future chemoprevention studies in VHL disease... - 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... - Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCNEmma R Woodward
Cancer Research UK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham and West Midlands Regional Genetics Service, Birmingham Women s Hospital, United Kingdom
Clin Cancer Res 14:5925-30. 2008.... - 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... - Population-based survey of cancer risks in chromosome 3 translocation carriersEmma R Woodward
CRUK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham, B15 2TT, UK
Genes Chromosomes Cancer 49:52-8. 2010..322, P = 0.673). These findings suggest that, in the absence of a family history of RCC or evidence of disruption of a specific tumor suppressor gene, chromosome 3 translocations carriers are not at high risk of developing RCC... - Von Hippel-Lindau disease and endocrine tumour susceptibilityEmma R Woodward
Section of Medical and Molecular Genetics and Cancer Research UK Renal Molecular Oncology Group, University of Birmingham, Institute of Biomedical Research, Birmingham B15 2TT, UK
Endocr Relat Cancer 13:415-25. 2006..Recently, it has been suggested that an HIF-independent failure of developmental apoptosis is a common feature of all inherited phaeochromocytoma susceptibility syndromes... - Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)Esther Meyer
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
PLoS Genet 5:e1000423. 2009..These observations are consistent with the hypothesis that NLRP2 has a previously unrecognised role in establishing or maintaining genomic imprinting in humans... - The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathwaysF E Lock
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
Oncogene 29:4307-16. 2010..These results implicate RASSF8 as a tumor suppressor gene that is essential for maintaining AJs function in epithelial cells and have a role in epithelial cell migration... - Detailed mapping of a congenital heart disease gene in chromosome 3p25E K Green
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, UK
J Med Genet 37:581-7. 2000..These findings will accelerate the identification of the 3p25 CHD susceptibility locus and facilitate investigations of the role of this locus in non-syndromic AVSDs, which are a common form of familial and isolated CHD... - A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) geneDerek H K Lim
Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham B15 2TT, UK
Hum Mutat 31:E1043-51. 2010..The mutations are comprised of deletions (44.3%), substitutions (35.7%), duplications (14.3%) and deletion/insertions (5.7%). The database is accessible online at http://www.lovd.nl/flcn... - Design and validation of a metabolic disorder resequencing microarray (BRUM1)Christopher K Bruce
School of Clinical and Experimental Medicine, The University of Birmingham, Birmingham, United Kingdom
Hum Mutat 31:858-65. 2010..Although the methodology has strengths and weaknesses, application of this technique could expedite diagnosis in most patients with multilocus IMDs... - Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinomaChristopher Ricketts
Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham, UK
PLoS ONE 4:e6037. 2009..Hence we hypothesised that low-penetrance functional genetic variants in pathways related to the VHL protein (pVHL) function might (a) modify the phenotypic expression of VHL disease and/or (b) predispose to sporadic RCC... - 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... - 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... - Involvement of the RASSF1A tumor suppressor gene in controlling cell migrationAshraf Dallol
Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, United Kingdom
Cancer Res 65:7653-9. 2005..These findings represent a novel function for RASSF1A, which may help explain its tumor suppression ability independently of its effects on cell cycle and apoptosis... - Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndromeWendy N Cooper
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
Genomics 89:613-7. 2007..In contrast to meiotic recombination, the mitotic recombination frequency did not decline near the centromere... - Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndromeWendy N Cooper
1Medical and Molecular Genetics Section, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
Eur J Hum Genet 13:1025-32. 2005.... - RASSF1A interacts with microtubule-associated proteins and modulates microtubule dynamicsAshraf Dallol
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham, United Kingdom
Cancer Res 64:4112-6. 2004..Our data identify a role for RASSF1A in the regulation of microtubules and cell cycle dynamics that could be part of the mechanism(s) by which RASSF1A exerts its growth inhibition on cancer cells... - A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)Neil V Morgan
Section of Medical and Molecular Genetics, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, United Kingdom
Am J Hum Genet 78:160-6. 2006..These findings define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS... - Frequent epigenetic inactivation of the SLIT2 gene in gliomasAshraf Dallol
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK
Oncogene 22:4611-6. 2003..2. Furthermore, our data suggest that a detailed analysis of both the cancer genome and epigenome will be required to identify key TSGs involved in glioma development... - VHL mutation analysis in patients with isolated central nervous system haemangioblastomaEmma R Woodward
Cancer Research UK Renal Molecular Oncology Group, Department of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, UK
Brain 130:836-42. 2007.... - Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancersAngelo Agathanggelou
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
Oncogene 22:1580-8. 2003..Together, these data suggest a significant role for epigenetic inactivation of BLU in the pathogenesis of common human cancers and that methylation inactivation of BLU occurs independent of RASSF1A in SCLC and neuroblastoma tumours... - Frequent RASSF1A tumour suppressor gene promoter methylation in Wilms' tumour and colorectal cancerKate J Wagner
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, UK
Oncogene 21:7277-82. 2002..We have demonstrated that RASSF1A inactivation is the most frequent genetic or epigenetic event yet reported in Wilms' tumourigenesis and that allelotyping studies may fail to identify regions containing important TSGs... - Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancerF M Richards
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
Hum Mol Genet 8:607-10. 1999..Thus, CDH1 should be investigated as a cause of inherited susceptibility to both gastric and colorectal cancers... - Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysisS C Hillman
School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
Ultrasound Obstet Gynecol 37:6-14. 2011..The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping... - Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathyEsther Meyer
Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
Mol Vis 16:650-64. 2010..To define the phenotype and elucidate the molecular basis for an autosomal recessively inherited optic atrophy and auditory neuropathy in a consanguineous family with two affected children... - Detection of RASSF1A aberrant promoter hypermethylation in sputum from chronic smokers and ductal carcinoma in situ from breast cancer patientsSofia Honorio
Department of Paediatrics and Child Health, University of Birmingham, UK
Oncogene 22:147-50. 2003..Furthermore, since RASSF1A promoter hypermethylation was detected in ductal carcinoma in situ, inactivation of RASSF1A may be an early event in breast tumorigenesis... - Frequent epigenetic inactivation of the RASSF1A tumour suppressor gene in testicular tumours and distinct methylation profiles of seminoma and nonseminoma testicular germ cell tumoursSofia Honorio
Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, The Medical School, Edgbaston, UK
Oncogene 22:461-6. 2003..0016). These findings are consistent with a multistep model for TGCT pathogenesis in which RASSF1A methylation occurs early in tumorigenesis and additional epigenetic events characterize progression from seminoma to NSTGCTs... - SLIT2 axon guidance molecule is frequently inactivated in colorectal cancer and suppresses growth of colorectal carcinoma cellsAshraf Dallol
Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, United Kingdom
Cancer Res 63:1054-8. 2003..In addition, conditioned medium from SLIT2-transfected COS-7 cells reduced cell growth and induced apoptosis in SW48 colorectal tumor cell line. In conclusion, SLIT2 is an excellent candidate tumor suppressor gene for colorectal cancer...