- 関
- NF1 gene
WordNet
- (genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors" (同)cistron, factor
- autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities (同)von Recklinghausen''s disease
- informal term for information; "give me the gen on your new line of computers"
PrepTutorEJDIC
- 遺伝子
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- NF1 Mutations Are Common in Desmoplastic Melanoma.
- Wiesner T1, Kiuru M, Scott SN, Arcila M, Halpern AC, Hollmann T, Berger MF, Busam KJ.
- The American journal of surgical pathology.Am J Surg Pathol.2015 Oct;39(10):1357-62. doi: 10.1097/PAS.0000000000000451.
- Desmoplastic melanoma (DM) is a rare variant of melanoma with distinct clinical, histopathologic, and immunohistochemical features. Clinically, DM differs from conventional melanoma by a higher propensity for local recurrence and less frequent metastatic spread to regional lymph nodes. In its pure f
- PMID 26076063
- Ketotifen suppression of NF1 neurofibroma growth over 30 years.
- Riccardi VM1.
- American journal of medical genetics. Part A.Am J Med Genet A.2015 Jul;167(7):1570-7. doi: 10.1002/ajmg.a.37045. Epub 2015 May 14.
- A patient with NF1 was treated with oral ketotifen for 30 years since infancy. Review of the patient's course and treatment details establishes a basis for reconsideration of several fundamental precepts about NF1 pathogenesis. The data suggest a distinctive benefit to treating an NF1 patient with a
- PMID 25974154
- Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
- Zhang J1, Tong H2, Fu X3, Zhang Y2, Liu J4, Cheng R1, Liang J1, Peng J5, Sun Z6, Liu H3, Zhang F3, Lu W2, Li M1, Yao Z1.
- Scientific reports.Sci Rep.2015 Jun 9;5:11291. doi: 10.1038/srep11291.
- Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disease that is primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor NF1. Because of the age-dependent presentation of NF1, it is often difficu
- PMID 26056819
Japanese Journal
- 神経線維腫症I型(von Recklinghausen 病)に合併した鼻腔平滑筋肉腫例
- 尾上 義浩,小池 修治,那須 隆,野田 大介,石田 晃弘,石井 健一,青柳 優
- 耳鼻咽喉科臨床 102(11), 931-937, 2009-11-01
- … We report a case of leiomyosarcoma of the nasal cavity with neurofibromatosis type 1 (NF1). … The risk of malignancy among NF1 patients is higher than among the general population, i.e., the NF1 gene is a tumor suppressor gene of which mutation involves a fourfold increased risk for cancer. … The NF1 gene product neurofibromin is thought to deliver much of its function by downregulating the oncogene ras. …
- NAID 10025527376
- GASTRIC SCHWANNOMA WITH ADJACENT EXTERNAL PROGRESSION HARBORED ABERRANT NF2 GENE
- OGASAWARA NAOTAKA,SASAKI MAKOTO,ISHIGURO HIDEYUKI,ITOH YUKIMI,NOJIRI SYUNSUKE,KUBOTA EIJI,WADA TSUNEYA,KATAOKA HIROMI,KUWABARA YOSHIYUKI,JOH TAKASHI
- Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society 21(3), 192-195, 2009-07-01
- NAID 10026611357
Related Links
- Abstract Neurofibromatosis type 1 is one of the most common inherited disorders with an incidence of 1 in 3000. The search for NF1 mutations has been hampered by the overall size of the gene, the large number of exons, and the ...
- Wallace et al., 1990 M. Wallace, D. Marchuk, L. Anderson, R. Letcher, H. Odeh, A. Saulino, J. Fountain, A. Brereton, J. Nicholson, A. Mitchell, B. Brownstein, F. Collins Type 1 neurofibromatosis gene: Identification of a large ...
★リンクテーブル★
[★]
- 関
- neurofibromatosis 1 gene
[★]
- 英
- neurofibromatosis 1 gene、NF1 gene
- 関
- NF1遺伝子
[★]
神経線維腫症 NF