Genes (34)
Species:
human : 33 mouse : 1 | |
| Mouse | EVI2A | 2123 | ecotropic viral integration site 2A | The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. | | Human | SPRED1 | 161742 | sprouty-related, EVH1 domain containing 1 | Studies show that the clinical features of the reported disorder resemble those of neurofibromatosis type 1 provide the first report of mutations of SPRED1 (SPROUTY)/SPRED family of genes) in human disease | | Human | INHBE | 83729 | inhibin, beta E | Effects of activin A on the growth of neurofibroma-derived cells from a patient with neurofibromatosis type 1. | | Human | ADAP2 | 55803 | ArfGAP with dual PH domains 2 | The human gene for centaurin alpha 2 is located on chromosome 17, position 17q11.2, near the neurofibromatosis 1 (NF1) locus and concentrated at the plasma membrane | | Human | SUZ12 | 23512 | SUZ12 polycomb repressive complex 2 subunit | JJAZ1 gene recombination may have a role in mosaicism in neurofibromatosis type 1 High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. | | Human | SPINK5 | 11005 | serine peptidase inhibitor, Kazal type 5 | In this article, the clinical findings and molecular advances in tuberous sclerosis complex, neurofibromatosis type 1, Bloom syndrome, epidermolytic hyperkeratosis, X-linked ichthyosis, Netherton syndrome, and Hermansky-Pudlak syndrome are reviewed. | | Human | RGS6 | 9628 | regulator of G-protein signaling 6 | The neurofibromatosis type 1 tumor suppressor protein neurofibromin, is a GTPase activating protein for H-, N-, K-, R-Ras and TC21/R-Ras2 proteins. A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene. NF1 was first identified as the gene responsible for the pathogenesis of the human genetic disorder neurofibromatosis type 1. cDNA cloning revealed that its putative protein product has a domain showing significant sequence homology with the mammalian Ras GTPase activating protein and two yeast Saccharomyces cerevisiae proteins, Ira1 and Ira2. | | Human | IQGAP1 | 8826 | IQ motif containing GTPase activating protein 1 | Melatonin deficiency, increased serotonin level with disturbed melatonin-serotonin interactions and calmodulin antagonism by increased IQGAP1 may be responsible for progression of both types of spinal deformities in neurofibromatosis 1. | | Human | TP63 | 8626 | tumor protein p63 | SUMMARY: This paper reviews recent developments in the molecular and biologic bases of neurofibromatosis type 1, tuberous sclerosis, and ectodermal disorders related to p63 and the connexin and NF-kappaB gene families. | | Human | AKAP1 | 8165 | A kinase (PRKA) anchor protein 1 | Characterization of three genes, AKAP84, BAW and WSB1, located 3; to the neurofibromatosis type 1 locus in Fugu rubripes. | | Human | SRY | 6736 | sex determining region Y | A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father. | | Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | Phaeochromocytoma is a neural-crest-derived tumour that may be a feature of several familial cancer syndromes including von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN 2), neurofibromatosis type 1 (NF1) and germline succinate dehydrogenase subunit (SDHB and SDHD) mutations. Up to date, four diagnosis of familal disease (multiple endocrine neoplasia type II, von Hippel Lindau disease, neurofibromatosis type 1 and hereditary paraganglioma) should be discussed and causative mutations in six different phaechomocytoma susceptibility genes (RET, VHL, NF1, SDHB, SDHD, SDHC) could be identified. Paragangliomas may be inherited in an autosomal dominant manner either alone (as in PGL1, PGL2, and PGL3 syndromes) or as a component of a multiple tumor syndrome (as in von Hippel-Lindau disease and neurofibromatosis type 1). About 10% of the patients with pheochromocytomas and paragangliomas present with a family history of von Hippel-Lindau disease (VHL), Multiple endocrine neoplasia type 2 (MEN2), one of the three familial paraganglioma syndromes (PGL; PGL1, PGL3, PGL4), or neurofibromatosis type 1 (NF1). However, our increased understanding of the three hereditary syndromes (neurofibromatosis 1, multiple endocrine neoplasia type 2, and von Hippel-Lindau syndrome) in which pheochromocytoma is found and the recent discovery that mutations in genes in the succinate dehydrogenase family (SDHB and SDHD) predispose to pheochromocytoma have necessitated a re-evaluation of the genetic basis of pheochromocytoma. | | Human | RASA1 | 5921 | RAS p21 protein activator (GTPase activating protein) 1 | Here we show that expression of neurofibromin GRD, but not the p120GAP GRD, restores normal growth and cytokine signaling in three lineages of primary Nf1-deficient cells that have been implicated in the pathogenesis of neurofibromatosis type 1 (NF1). | | Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | Potential causative mutations or other genetic abnormalities in three genes (eg, RAS, neurofibromatosis type 1, and PTPN11), all of which are positioned in the GM-CSF/Ras signal transduction pathway, account for up to 75% of cases of JMML. | | Human | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | Apparently, not only MLH1, MSH2 and PMS2, but also MSH6 is involved in the syndrome of childhood cancer and signs of neurofibromatosis type 1. Recently, a syndrome was recognized in which children develop haematological malignancies, solid tumours and signs of neurofibromatosis type 1 due to bi-allelic MMR gene mutations in MLH1, MSH2 and PMS2. | | Human | PDGFRA | 5156 | platelet-derived growth factor receptor, alpha polypeptide | The point mutations of c-kit and platelet- derived growth factor receptor alpha genes may play a limited role in the tumorigenesis of type 1 neurofibromatosis-associated gastrointestinal stromal tumors | | Human | OMG | 4974 | oligodendrocyte myelin glycoprotein | Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. The oligodendrocyte-myelin glycoprotein (OMgp), a phosphatidylinositol-linked membrane glycoprotein expressed in the brain, is in man encoded by a gene that is entirely within an intron of and on the strand opposite to the neurofibromatosis type 1 (NF1) gene. By hybridization of the genomic clone to metaphase cells, we have localized the human OMgp gene to chromosome 17 bands q11-12, a region to which the neurofibromatosis type 1 gene has been previously mapped. | | Human | NF2 | 4771 | neurofibromin 2 (merlin) | The neurofibromatosis 1 and neurofibromatosis 2 genes are discussed as illustrative examples of tumor suppressors that function at the levels of signal transduction and environmental sensing, respectively. Identification of genetic alterations of the NF2 gene in skin tumors may help to identify neurofibromatosis-2-associated skin tumors, thus assisting in the diagnosis of neurofibromatosis 2 in ambiguous cases, and excluding neurofibromatosis 1 in unclear cases. The motor protein kinesin-1 links neurofibromin and this protein in a common cellular pathway of neurofibromatosis | | Human | NF1 | 4763 | neurofibromin 1 | Click here to display 16 evidence detail records. | | Human | MYBL2 | 4605 | v-myb avian myeloblastosis viral oncogene homolog-like 2 | Some genes that were not previously linked to this model, such as bric-a-brac (BTB) and cap-n-collar(CNC) homology 1(BACH1), early growth response protein 2 (EGR2), E47 interaction protein 1 (EIP1), Ngfi-A binding protein 2 (NAB2), myeloblastosis oncogene-like protein (MYBL2), neurofibromatosis 1 (NF1), ciliarry neurotropic factor (CNTF) and semaphorin 4A (Sema4A). | | Human | KITLG | 4254 | KIT ligand | Stem cell factor is an important cytokine in neurofibromatosis type 1 skin, but that additional (growth) factors and/or genetic mechanisms are needed to induce NF1-specific CALM hyperpigmentation Increased stem cell factor levels are associated with tumorigenesis in neurofibromatosis type 1 | | Human | MDK | 4192 | midkine (neurite growth-promoting factor 2) | By in situ hybridization and immunohistochemistry, we demonstrate aberrant expression of the angiogenic and tumorigenic growth factor midkine in the skin of patients with neurofibromatosis type 1, but not normal individuals. Increased midkine levels are associated with tumorigenesis in neurofibromatosis type 1 In conclusion, we introduce the skin as a source of dysregulated growth factors in neurofibromatosis type 1, and suggest the further study of the angiogenic factor midkine in neurofibromatosis type 1 pathogenesis. | | Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Expression of CD117 in a malignant peripheral nerve sheath tumour arising in a patient with type 1 neurofibromatosis. The expression levels for c-Kit are high for Schwann cells derived from MPNST of neurofibromatosis type 1 tumors patients | | Human | KIF5B | 3799 | kinesin family member 5B | links neurofibromin and merlin in a common cellular pathway of neurofibromatosis | | Human | KCNH1 | 3756 | potassium voltage-gated channel, subfamily H (eag-related), member 1 | We show that growth of the perineurial glia is controlled by interactions among five genes: ine, which encodes a putative neurotransmitter transporter; eag, which encodes a potassium channel; push, which encodes a large, Zn(2+)-finger-containing protein; amn, which encodes a putative neuropeptide related to the pituitary adenylate cyclase activator peptide; and NF1, the Drosophila ortholog of the human gene responsible for type 1 neurofibromatosis. |
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