X-linked disorders

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英文文献

  • Characterisation of Cdkl5 transcript isoforms in rat.
  • Hector RD1, Dando O2, Ritakari TE3, Kind PC4, Bailey ME5, Cobb SR6.
  • Gene.Gene.2017 Mar 1;603:21-26. doi: 10.1016/j.gene.2016.12.001. Epub 2016 Dec 7.
  • CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). The predominant human CDKL5 brain isoform is a 9.7kb transcript comprised of 18 exons with a large 6.6kb 3'-untranslated region (UTR). Mammalian models of CDKL5 disorde
  • PMID 27940108
  • Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.
  • Lin HH1, Wu RM2, Lin HI2, Chen ML2, Tai CH2, Lin CH3.
  • Neurobiology of aging.Neurobiol Aging.2017 Feb;50:169.e3-169.e4. doi: 10.1016/j.neurobiolaging.2016.10.021. Epub 2016 Oct 21.
  • Loss of function mutations in RAB39B were recently linked to X-linked recessive early-onset Parkinsonism with variable degrees of intellectual dysfunction. Postmortem examination of the brain biopsy from a patient carrying the gene deletion revealed widespread α-synuclein pathology. However, subseq
  • PMID 27838047
  • Immunodeficiency Presenting as an Undiagnosed Disease.
  • Routes JM1, Verbsky JW2.
  • Pediatric clinics of North America.Pediatr Clin North Am.2017 Feb;64(1):27-37. doi: 10.1016/j.pcl.2016.08.007.
  • Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more autoimmune disorders, unusual severe atopic disease, or a comb
  • PMID 27894450

和文文献

  • Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
  • SHIMOJIMA Keiko,SUGAWARA Midori,SHICHIJI Minobu,MUKAIDA Souichi,TAKAYAMA Rumiko,IMAI Katsumi,YAMAMOTO Toshiyuki
  • Journal of human genetics 56(8), 561-565, 2011-08-01
  • NAID 10030660361
  • Molecular and clinical studies of X-linked deafness among Pakistani families
  • WARYAH Ali M,AHMED Zubair M,BHINDER Munir A,CHOO Daniel I,SISK Robert A,SHAHZAD Mohsin,KHAN Shaheen N,FRIEDMAN Thomas B,RIAZUDDIN Sheikh,RIAZUDDIN Saima
  • Journal of human genetics 56(7), 534-540, 2011-07-01
  • NAID 10030660251
  • Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders
  • MIURA Kiyonori,HIGASHIJIMA Ai,SHIMADA Takako,MIURA Shoko,YAMASAKI Kentaro,ABE Shuhei,JO Ozora,KINOSHITA Akira,YOSHIDA Atsushi,YOSHIMURA Shuichiro,NIIKAWA Norio,YOSHIURA Koh-ichiro,MASUZAKI Hideaki
  • Journal of human genetics 56(4), 296-299, 2011-04-01
  • NAID 10030658849

関連リンク

X-linked disorders dominant/recessive genes (carried on X chromosome), responsible for X-linked inherited diseases; a male (XY) with the X-linked gene will show disease symptoms; a female (XX) with the X-linked gene may show ...
X-linked diseases are single gene disorders that reflect the presence of defective genes on the X chromosome. This chromosome is present as two copies in females but only as one copy in males. The inheritance patterns ...

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★リンクテーブル★
関連記事link」「disorder」「X」「linked」「x

link」

  [★]

  • n.
  • v.
associateassociationattachbearingbindcatenatecatenationconcatenationconnectconnectioncorrelatecorrelationimplicateimplicationjoinjunctureligateligationlinkagelinkedpertinentreferencerelaterelationrelationshiprelativerelevancerelevant

WordNet   license wordnet

「the means of connection between things linked in series」
nexus

WordNet   license wordnet

「a unit of length equal to 1/100 of a chain」

WordNet   license wordnet

「an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data」
data link

WordNet   license wordnet

「a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction"」
linkup, tie, tie-in

WordNet   license wordnet

「(computing) an instruction that connects one part of a program or an element on a list to another program or list」

PrepTutorEJDIC   license prepejdic

「(鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》」

PrepTutorEJDIC   license prepejdic

「たいまつ」


disorder」

  [★]

  • 障害:個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
  • n.
  • an untidy state; a lack of order or organization (⇔order)
  • violent behaviour of large groups of people
  • an illness that cause a part of the body to stop functioning correctly
  • 注意
disease <> illness <> disorder
  • vt.
  • 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
  • vi.

WordNet   license wordnet

「bring disorder to」
disarray

WordNet   license wordnet

「a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time"」
upset

WordNet   license wordnet

「a disturbance of the peace or of public order」

PrepTutorEJDIC   license prepejdic

「〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる」


X」

  [★] キサントシン, xanthosine

WordNet   license wordnet

「the 24th letter of the Roman alphabet」
x, ex

PrepTutorEJDIC   license prepejdic

「Christ / Christian」


linked」

  [★]

  • adj.
  • 連鎖の、連鎖的な、連鎖性の
catenationlinklinkage


x」

  [★]

PrepTutorEJDIC   license prepejdic

「x-axis」




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