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The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.

作者信息

Komatsu K, Matsuura S, Tauchi H, Endo S, Kodama S, Smeets D, Weemaes C, Oshimura M

出版信息

Am J Hum Genet. 1996 Apr;58(4):885-8.

PMID:8644753
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914668/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8a5/1914668/e5a554a10f26/ajhg00017-0243-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8a5/1914668/e5a554a10f26/ajhg00017-0243-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8a5/1914668/e5a554a10f26/ajhg00017-0243-a.jpg

相似文献

1
The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11.尼曼-匹克病C型基因（V2）不在11号染色体上。
Am J Hum Genet. 1996 Apr;58(4):885-8.
2
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.利用微细胞介导的染色体转移进行基因定位表明，尼曼-匹克氏病断裂综合征的一个基因座位于8号染色体q21 - 24区域。
Am J Hum Genet. 1997 Jun;60(6):1487-94. doi: 10.1086/515461.
3
Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome.智力发育正常的严重小头畸形：奈梅亨断裂综合征
Arch Dis Child. 1995 Nov;73(5):431-4. doi: 10.1136/adc.73.5.431.
4
Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.通过染色体转移对共济失调毛细血管扩张症细胞进行表型互补的研究。
Am J Hum Genet. 1995 Feb;56(2):438-43.
5
Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.患有以免疫缺陷、小头畸形和染色体不稳定为特征的遗传性综合征的患者：与共济失调毛细血管扩张症的遗传关系。
Am J Hum Genet. 1988 Jan;42(1):66-73.
6
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients.共济失调毛细血管扩张症和尼曼-匹克氏病C型的基因互补分析：50例患者的调查
Cytogenet Cell Genet. 1988;49(4):259-63. doi: 10.1159/000132673.
7
Human chromosome 11 complements ataxia-telangiectasia cells but does not complement the defect in AT-like Chinese hamster cell mutants.人类11号染色体可互补共济失调毛细血管扩张症细胞，但不能互补类共济失调毛细血管扩张症的中国仓鼠细胞突变体中的缺陷。
Hum Genet. 1993 Oct 1;92(3):259-64. doi: 10.1007/BF00244469.
8
Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1.
J Radiat Res. 2000 Mar;41(1):9-17. doi: 10.1269/jrr.41.9.
9
Positional cloning of the gene for Nijmegen breakage syndrome.奈梅亨断裂综合征基因的定位克隆
Nat Genet. 1998 Jun;19(2):179-81. doi: 10.1038/549.
10
ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.阿特弗雷斯诺：一种将共济失调毛细血管扩张症与尼曼-匹克氏病C型联系起来的表型。
Am J Hum Genet. 1989 Aug;45(2):270-5.

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本文引用的文献

1
Co-dominance of radioresistant DNA synthesis in a group of AT-like Chinese hamster cell mutants.
Cytogenet Cell Genet. 1993;63(3):176-80. doi: 10.1159/000133528.
2
Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.通过染色体转移对共济失调毛细血管扩张症细胞进行表型互补的研究。
Am J Hum Genet. 1995 Feb;56(2):438-43.
3
Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome 11q22-q23.
Int J Radiat Biol. 1994 Dec;66(6 Suppl):S45-56.
4
单一同义突变决定了新生蛋白的磷酸化和稳定性。
J Mol Cell Biol. 2019 Mar 1;11(3):187-199. doi: 10.1093/jmcb/mjy049.
4
ATM-mediated mitochondrial damage response triggered by nuclear DNA damage in normal human lung fibroblasts.ATM 介导线粒体损伤反应触发正常人类肺成纤维细胞的核 DNA 损伤。
Cell Cycle. 2017;16(24):2345-2354. doi: 10.1080/15384101.2017.1387697. Epub 2017 Nov 29.
5
NBS1 and multiple regulations of DNA damage response.NBS1与DNA损伤反应的多重调控
J Radiat Res. 2016 Aug;57 Suppl 1(Suppl 1):i11-i17. doi: 10.1093/jrr/rrw031. Epub 2016 Apr 10.
6
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.奈梅亨断裂综合征。国际奈梅亨断裂综合征研究小组。
Arch Dis Child. 2000 May;82(5):400-6. doi: 10.1136/adc.82.5.400.
7
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.奈梅亨断裂综合征基因在8q21的精细定位：共同始祖单倍型的证据
Am J Hum Genet. 1998 Jul;63(1):125-34. doi: 10.1086/301927.
8
Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.奈梅亨断裂综合征细胞在暴露于电离辐射后无法诱导p53介导的DNA损伤反应。
Mol Cell Biol. 1997 Sep;17(9):5016-22. doi: 10.1128/MCB.17.9.5016.
9
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.利用微细胞介导的染色体转移进行基因定位表明，尼曼-匹克氏病断裂综合征的一个基因座位于8号染色体q21 - 24区域。
Am J Hum Genet. 1997 Jun;60(6):1487-94. doi: 10.1086/515461.
10
Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons.共济失调毛细血管扩张症/共济失调毛细血管扩张变异型异核体中辐射诱导染色体畸变的非互补现象
Am J Hum Genet. 1997 May;60(5):1246-51.
Functional complementation studies with X-ray-sensitive mutants of Chinese hamster cells closely resembling ataxia-telangiectasia cells.对与共济失调毛细血管扩张症细胞极为相似的中国仓鼠细胞X射线敏感突变体进行的功能互补研究。
Int J Radiat Biol. 1994 Dec;66(6 Suppl):S189-95.
5
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.一个与PI-3激酶产物相似的共济失调毛细血管扩张症基因。
Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600.
6
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.共济失调毛细血管扩张变异基因1和2与位于11号染色体q23.1上的共济失调毛细血管扩张基因不同。
Am J Hum Genet. 1995 Oct;57(4):960-2.
7
Ataxia-telangiectasia: closer to unraveling the mystery.
Eur J Hum Genet. 1995;3(2):116-38. doi: 10.1159/000472285.
8
A gene that regulates DNA replication in response to DNA damage is located on human chromosome 4q.
Am J Hum Genet. 1995 Nov;57(5):1095-103.
9
A new chromosomal instability disorder: the Nijmegen breakage syndrome.一种新的染色体不稳定疾病：奈梅亨断裂综合征。
Acta Paediatr Scand. 1981 Jul;70(4):557-64. doi: 10.1111/j.1651-2227.1981.tb05740.x.
10
Complementation of the defects of DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells.辐射和未辐射的共济失调毛细血管扩张症细胞中DNA合成缺陷的互补作用。
Proc Natl Acad Sci U S A. 1982 Mar;79(6):1960-3. doi: 10.1073/pnas.79.6.1960.