Published in J Mol Diagn on October 01, 2005
Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev (2012) 2.70
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer. Genome Biol (2011) 2.11
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. PLoS Biol (2010) 1.61
Structural basis of fumarate hydratase deficiency. J Inherit Metab Dis (2011) 1.58
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet (2008) 1.38
Alterations of metabolic genes and metabolites in cancer. Semin Cell Dev Biol (2012) 1.18
Leiomyoma cutis: a clinicopathological series of 37 cases. Indian J Dermatol (2010) 1.15
Epigenetic regulation in RCC: opportunities for therapeutic intervention? Nat Rev Urol (2012) 0.99
Metabolomics Reveals a Key Role for Fumarate in Mediating the Effects of NADPH Oxidase 4 in Diabetic Kidney Disease. J Am Soc Nephrol (2015) 0.93
Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry. Mod Pathol (2013) 0.85
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet (2002) 8.19
Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet (2003) 2.88
A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal Biochem (1978) 2.54
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet (2003) 2.04
Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol (2005) 1.75
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol (2003) 1.72
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol (2001) 1.46
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest (1994) 1.45
The multisubunit active site of fumarase C from Escherichia coli. Nat Struct Biol (1995) 1.40
Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim Biophys Acta (1997) 1.27
Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab (1998) 1.14
Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology (1990) 1.11
Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med (2004) 1.06
Mutations of fumarase that distinguish between the active site and a nearby dicarboxylic acid binding site. Protein Sci (1997) 1.01
The cytosolic pathway of L-malic acid synthesis in Saccharomyces cerevisiae: the role of fumarase. Appl Microbiol Biotechnol (1996) 0.90
Crystal structures of native and recombinant yeast fumarase. J Mol Biol (1998) 0.88
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet (2007) 11.62
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet (2002) 8.19
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet (2007) 6.02
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med (2003) 4.88
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer (2003) 4.68
Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature (2011) 4.32
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet (2010) 4.20
Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet (2007) 3.93
Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev Cancer (2005) 3.85
Chromosomal instability confers intrinsic multidrug resistance. Cancer Res (2011) 3.70
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci U S A (2004) 3.62
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2008) 3.34
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proc Natl Acad Sci U S A (2011) 3.10
Evaluation of PIK3CA mutation as a predictor of benefit from nonsteroidal anti-inflammatory drug therapy in colorectal cancer. J Clin Oncol (2013) 2.90
Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway. Cancer Cell (2007) 2.69
Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas. Cancer Res (2004) 2.56
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34
Genomic instability--the engine of tumorigenesis? Nat Rev Cancer (2003) 2.27
CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability. Cancer Res (2005) 2.19
Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice. Hum Mol Genet (2008) 2.00
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol (2004) 1.95
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer. Hum Mol Genet (2013) 1.87
KRAS mutation is associated with lung metastasis in patients with curatively resected colorectal cancer. Clin Cancer Res (2011) 1.87
Clonality assessment and clonal ordering of individual neoplastic crypts shows polyclonality of colorectal adenomas. Gastroenterology (2010) 1.83
Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. J Cell Biol (2002) 1.83
Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol (2005) 1.75
Clinicopathologic features of skin cancer in organ transplant recipients: a retrospective case-control series. J Am Acad Dermatol (2006) 1.74
Relationship between p53 codon 72 polymorphism and susceptibility to sunburn and skin cancer. J Invest Dermatol (2002) 1.66
E-cadherin/catenin complex status in solid pseudopapillary tumor of the pancreas. Am J Surg Pathol (2008) 1.60
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
The TGFBR1*6A/9A polymorphism is not associated with differential risk of breast cancer. Breast Cancer Res Treat (2009) 1.55
Diabetes self-management education core outcomes measures. Diabetes Educ (2003) 1.52
Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma. Oncogene (2005) 1.49
DNA copy-number alterations underlie gene expression differences between microsatellite stable and unstable colorectal cancers. Clin Cancer Res (2008) 1.44
Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells. J Invest Dermatol (2011) 1.44
Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res (2003) 1.40
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. Hum Mol Genet (2008) 1.40
Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer (2007) 1.39
The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet (2008) 1.38
Evidence of linkage to chromosome 9q22.33 in colorectal cancer kindreds from the United Kingdom. Cancer Res (2006) 1.37
Genomic profiling identifies discrete deletions associated with translocations in glioblastoma multiforme. Cell Cycle (2006) 1.34
Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism. Hum Mol Genet (2010) 1.33
Molecular genetic evidence that endometriosis is a precursor of ovarian cancer. Int J Cancer (2006) 1.32
Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry. PLoS One (2013) 1.32
Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. J Clin Endocrinol Metab (2006) 1.31
The role of hyaluronic acid in wound healing: assessment of clinical evidence. Am J Clin Dermatol (2005) 1.29
The Apc 1322T mouse develops severe polyposis associated with submaximal nuclear beta-catenin expression. Gastroenterology (2009) 1.28
The stem cell marker CD133 associates with enhanced colony formation and cell motility in colorectal cancer. PLoS One (2010) 1.24
Tissue, cell and stage specificity of (epi)mutations in cancers. Nat Rev Cancer (2005) 1.24
MED12 exon 2 mutations are common in uterine leiomyomas from South African patients. Oncotarget (2011) 1.22
What can we learn from the population incidence of cancer? Armitage and Doll revisited. Lancet Oncol (2007) 1.22
Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients. Oncogene (2003) 1.20
Whole-genome methylation analysis of benign and malignant colorectal tumours. J Pathol (2013) 1.20
Unregulated smooth-muscle myosin in human intestinal neoplasia. Proc Natl Acad Sci U S A (2008) 1.20
Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia. Oncogene (2005) 1.19
Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice. Cancer Res (2004) 1.19
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol (2011) 1.18
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet (2012) 1.18
Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. Cancer Res (2002) 1.17
Analysis of ovarian cancer cell lines using array-based comparative genomic hybridization. J Pathol (2005) 1.17
The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. Ann Med (2003) 1.16
Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci (2003) 1.16
A basal gradient of Wnt and stem-cell number influences regional tumour distribution in human and mouse intestinal tracts. Gut (2012) 1.16
A nonlinear mathematical model of cell turnover, differentiation and tumorigenesis in the intestinal crypt. J Theor Biol (2006) 1.13
Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 1.13
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol (2006) 1.12
Survival in stage II/III colorectal cancer is independently predicted by chromosomal and microsatellite instability, but not by specific driver mutations. Am J Gastroenterol (2013) 1.12
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. J Clin Endocrinol Metab (2006) 1.12
Promoter hypermethylation leads to decreased APC mRNA expression in familial polyposis and sporadic colorectal tumours, but does not substitute for truncating mutations. Exp Mol Pathol (2008) 1.11
Tyrosine dephosphorylation is required for Bak activation in apoptosis. EMBO J (2010) 1.09
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol (2003) 1.08
Single nucleotide polymorphism array analysis defines a specific genetic fingerprint for well-differentiated cutaneous SCCs. J Invest Dermatol (2009) 1.08
High frequency and diversity of cutaneous appendageal tumors in organ transplant recipients. J Am Acad Dermatol (2003) 1.07
Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res (2012) 1.07
Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Hum Mol Genet (2011) 1.07
Breast cancer dormancy can be maintained by small numbers of micrometastases. Cancer Res (2010) 1.06
Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies. PLoS One (2010) 1.05
Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. J Cell Sci (2007) 1.04
Low penetrance breast cancer predisposition SNPs are site specific. Breast Cancer Res Treat (2008) 1.03
The keratins and their disorders. Am J Med Genet C Semin Med Genet (2004) 1.01
Low-penetrance susceptibility variants in familial colorectal cancer. Cancer Epidemiol Biomarkers Prev (2010) 1.01
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet (2002) 1.00
The Wnt pathway, epithelial-stromal interactions, and malignant progression in phyllodes tumours. J Pathol (2002) 0.99
HPV8 early genes modulate differentiation and cell cycle of primary human adult keratinocytes. Exp Dermatol (2007) 0.97
PHLDA1 expression marks the putative epithelial stem cells and contributes to intestinal tumorigenesis. Cancer Res (2011) 0.97
Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. Hum Genet (2004) 0.96