WordNet
- reimbursement for goods damaged while in transit or in use
- the quantity broken; "the total breakage was huge"
- the act of breaking something; "the breakage was unavoidable" (同)break, breaking
- of or relating to a chromosome; "chromosomal defect"
PrepTutorEJDIC
- 〈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
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- 1. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
- 2. ナイミーヘン染色体不安定症候群 nijmegen breakage syndrome
- 3. ブルーム症候群 bloom syndrome
- 4. 小児および思春期における遺伝性再生不良性貧血 inherited aplastic anemia in children and adolescents
- 5. 小頭症に対する臨床遺伝学的アプローチ microcephaly a clinical genetics approach
English Journal
- 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(1):31. [Epub ahead of print]
- 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
- Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
- Vetro A1, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O.
- Human mutation.Hum Mutat.2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7.
- The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be bor
- PMID 25754594
- DNA damage in cells exhibiting radiation-induced genomic instability.
- Keszenman DJ1, Kolodiuk L2, Baulch JE3.
- Mutagenesis.Mutagenesis.2015 May;30(3):451-8. doi: 10.1093/mutage/gev006. Epub 2015 Feb 22.
- Cells exhibiting radiation-induced genomic instability exhibit varied spectra of genetic and chromosomal aberrations. Even so, oxidative stress remains a common theme in the initiation and/or perpetuation of this phenomenon. Isolated oxidatively modified bases, abasic sites, DNA single strand breaks
- PMID 25711497
Japanese Journal
- Regulatory interaction between NBS1 and DNMT1 responding to DNA damage
- The journal of biochemistry 154(5), 429-435, 2013-11
- NAID 120005373519
- Interference in DNA Replication Can Cause Mitotic Chromosomal Breakage Unassociated with Double-Strand Breaks
- PLoS ONE 8(4), 2013-04-03
- NAID 120005244257
- Dissection of rye chromosomes by the gametocidal system
- Genes & Genetic Systems 88(6), 321-327, 2013
- NAID 130004137816
Related Links
- 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 breakage The disruption of a chromosome, as by radiation or toxic chemicals. When this occurs, the two fragments may rejoin, or a fragment may rejoin another broken chromosome. Unrepaired chromosome breaks are ...
Related Pictures
★リンクテーブル★
| リンク元 | 「染色体切断」「chromosome break」「chromosomal break」「chromosome breakage」 |
| 関連記事 | 「breakage」「chromosomal」 |
「染色体切断」
「chromosome break」
「chromosomal break」
「chromosome breakage」
「breakage」
- n.
- 関
- ablate、ablation、amputate、amputation、break、cleavage、cleave、damage、disruption、scission、sever、transection、truncate、truncation
「chromosomal」
- 染色体の、染色体性の