WordNet

a decrease in size of an organ caused by disease or disuse (同)wasting, wasting away
undergo atrophy; "Muscles that are not used will atrophy"
any weakening or degeneration (especially through lack of use) (同)withering
(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
informal term for information; "give me the gen on your new line of computers"

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Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases.

Varela MA1, Curtis HJ1, Douglas AG1, Hammond SM1, O'Loughlin AJ1, Sobrido MJ2, Scholefield J1, Wood MJ1.
European journal of human genetics : EJHG.Eur J Hum Genet.2015 May 20. doi: 10.1038/ejhg.2015.94. [Epub ahead of print]
Allele-specific gene therapy aims to silence expression of mutant alleles through targeting of disease-linked single-nucleotide polymorphisms (SNPs). However, SNP linkage to disease varies between populations, making such molecular therapies applicable only to a subset of patients. Moreover, not all
PMID 25990798

Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.

Hyppönen J1, Äikiä M2, Joensuu T2, Julkunen P2, Danner N2, Koskenkorva P2, Vanninen R2, Lehesjoki AE2, Mervaala E2, Kälviäinen R2.
Neurology.Neurology.2015 Apr 14;84(15):1529-36. doi: 10.1212/WNL.0000000000001466. Epub 2015 Mar 13.
OBJECTIVE: This Finnish nationwide study aimed to refine the clinical phenotype variability and to identify factors that could explain the extensive variability in the clinical severity of the symptoms observed among patients with Unverricht-Lundborg disease (progressive myoclonus epilepsy type 1 [E
PMID 25770194

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.

Das Bhowmik A1, Rangaswamaiah S1, Srinivas G1, Dalal AB2.
European journal of medical genetics.Eur J Med Genet.2015 Mar;58(3):160-7. doi: 10.1016/j.ejmg.2014.12.010. Epub 2014 Dec 19.
Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene.
PMID 25534560

端里香,中村彰利,杉本健郎,金子一成
脳と発達 = OFFICIAL JOURNAL OF THE JAPANESE SOCIETY OF CHILD NEUROLOGY 39(6), 445-449, 2007-11-01
… We report the clinical course and results of electroencephalographic (EEG) examinations in 2 sisters with infantile dentatorubral pallidoluysian atrophy (DRPLA).<BR>Typical development was seen until the age of 6 months. …
NAID 10020115456

中山智博,舟塚真,林北見,斉藤加代子,小国弘量,大澤真木子
てんかん研究 25(1), 4-9, 2007-04-30
脊髄小脳変性症に対するTRH療法は構語障害や歩行障害などの臨床症状の改善に有効である。今回我々は、遺伝子検索にて歯状核赤核淡蒼球ルイ体萎縮症(DRPLA)と診断された(CAGリピート数71)24歳女性の不随意運動に対し、バルプロ酸(VPA)、クロナゼパム(CZP)等各種抗痙攣剤では効果がないためTRH療法を施行したところ、著明な効果を認めた。また同時に日常活動度が改善した。しかしながらその効果は徐 …
NAID 110006250658

高野政彦
新潟医学会雑誌 119(11), 683-693, 2005-11-10
… Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. … To study the effect of expanded polyglutamine stretches on the CREB-dependent transcriptional activation in vivo, we made transgenic mice harboring a CRE-LacZ reporter gene and a full-length mutant human DRPLA gene with expanded CAG repeats (Q76). …
NAID 110004777815