chromosome breakage syndrome

染色体切断症候群

WordNet

1. reimbursement for goods damaged while in transit or in use
2. the quantity broken; "the total breakage was huge"
3. the act of breaking something; "the breakage was unavoidable" (同)break, breaking
4. a pattern of symptoms indicative of some disease
5. a complex of concurrent things; "every word has a syndrome of meanings"
6. a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"

PrepTutorEJDIC

1. 〈U〉破損;〈C〉破損箇所 / 破損量 / 〈C〉《通例複数形で》《英》破損物 / 〈C〉破損額
2. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
3. 染色体

UpToDate Contents

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• 1. ナイミーヘン染色体不安定症候群 nijmegen breakage syndrome
• 2. 症候群をきたす免疫不全症 syndromic immunodeficiencies
• 3. 先天異常の遺伝学的および環境的原因 genetic and environmental causes of birth defects
• 4. ブルーム症候群 bloom syndrome
• 5. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions

English Journal

• Defects in the Fanconi Anemia Pathway and Chromatid Cohesion in Head and Neck Cancer.

• Stoepker C1, Ameziane N1, van der Lelij P1, Kooi IE1, Oostra AB1, Rooimans MA1, van Mil SE1, Brink A2, Dietrich R3, Balk JA1, Ylstra B4, Joenje H1, Feller SM5, Brakenhoff RH6.
• Cancer research.Cancer Res.2015 Sep 1;75(17):3543-53. doi: 10.1158/0008-5472.CAN-15-0528. Epub 2015 Jun 29.
• Failure to repair DNA damage or defective sister chromatid cohesion, a process essential for correct chromosome segregation, can be causative of chromosomal instability (CIN), which is a hallmark of many types of cancers. We investigated how frequent this occurs in head and neck squamous cell carcin
• PMID 26122845

• Hepatitis B virus pre-S2 mutant large surface protein inhibits DNA double-strand break repair and leads to genome instability in hepatocarcinogenesis.

• Hsieh YH1, Chang YY1, Su IJ2, Yen CJ3, Liu YR4, Liu RJ1, Hsieh WC2, Tsai HW5, Wang LH4, Huang W1,6,7.
• The Journal of pathology.J Pathol.2015 Jul;236(3):337-47. doi: 10.1002/path.4531. Epub 2015 Apr 22.
• Although hepatitis B virus (HBV) has been established to cause hepatocellular carcinoma (HCC), the exact mechanism remains to be clarified. Type II ground glass hepatocytes (GGHs) harbouring the HBV pre-S2 mutant large surface protein (LHBS) have been recognized as a morphologically distinct hallmar
• PMID 25775999

• A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.

• Thiffault I1,2, Saunders C3,4,5, Jenkins J6,7,8, Raje N9, Canty K10, Sharma M11, Grote L12,13,14, Welsh HI15,16,17, Farrow E18, Twist G19, Miller N20, Zwick D21, Zellmer L22, Kingsmore SF23,24,25,26, Safina NP27,28,29.
• BMC medical genetics.BMC Med Genet.2015 May 7;16:31. doi: 10.1186/s12881-015-0177-y.
• BACKGROUND: Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy.CASE PRESENTATION: We performed exome sequencing on a girl with a suspected ch
• PMID 25948378

Japanese Journal

• 204 A CASE OF CHROMOSOME BREAKAGE SYNDROME WITH SEVERE GROWTH FAILURE AND SYSTEMIC BONE DISEASE

• Yamanaka C,Nishi Y,Yorifuji T
• Clinical pediatric endocrinology 12(2), 161, 2003-12
• NAID 110002984556

• Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome : evidence for a common mechanism of chromosome breakage

• JONES C
• Hum Mol Genet 9, 1201-1208, 2000
• NAID 30018400970

• Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1

• TAUCHI H
• Genomics 55, 242-247, 1999
• NAID 30021500538

Related Links

• Chromosomal Breakage Syndromes - Medscape Reference

24 Oct 2011 ... Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. In culture, cells from affected individuals exhibit elevated rates of chromosomal ...

• Chromosome instability syndrome - Wikipedia, the free encyclopedia

Chromosome instability syndrome. From Wikipedia, the free encyclopedia. Jump to: navigation, search. Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often ...

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★リンクテーブル★

リンク元	「染色体切断症候群」
関連記事	「breakage」「chromosome breakage」「syndrome」

「染色体切断症候群」

　　[★]

英

chromosome breakage syndrome

同

染色体不安定症候群 chromosome instability syndrome

[show details]

染色体切断症候群 : 39 件
染色体不安定症候群 : 約 90 件

「breakage」

　　[★]

• n.

• 破損、切断

関

ablate、ablation、amputate、amputation、break、cleavage、cleave、damage、disruption、scission、sever、transection、truncate、truncation

　 　 　 　

「chromosome breakage」

　　[★]

• 染色体切断

関

chromosomal break、chromosomal breakage、chromosome break

「syndrome」

　　[★]

• n.

• 症候群