WordNet

(genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
a change or alteration in form or qualities
the 9th letter of the Roman alphabet (同)i
(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
the 7th letter of the Roman alphabet (同)g

PrepTutorEJDIC

変化,俸転 / (生物の)突然変異;その変種
『私は』私が
iodineの化学記号
遺伝子

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1. ジストニアの分類および評価 classification and evaluation of dystonia
2. 小児における運動過多な運動障害 hyperkinetic movement disorders in children
3. 上皮成長因子受容体変異を有する進行非小細胞肺癌に対する全身療法 systemic therapy for advanced non small cell lung cancer with an activating mutation in the epidermal growth factor receptor
4. ドライバー変異が認められない進行非小細胞肺癌に対する初期全身化学療法 initial systemic chemotherapy for advanced non small cell lung cancer without a driver mutation
5. 遺伝性疾患の基本原則 basic principles of genetic disease

English Journal

Unusual Case of Levodopa-Responsive Camptocormia in a Patient With Negative Dopamine Transporter Scan and Normal DYT 5 Gene.

Oravivattanakul S1, Abboud H, Fernandez H, Itin I.Author information 1*Center for Neurological Restoration, Cleveland Clinic Foundation; and †Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH.AbstractOBJECTIVE: To describe an unusual case of camptocormia responding to levodopa.
Clinical neuropharmacology.Clin Neuropharmacol.2014 Mar-Apr;37(2):63-4. doi: 10.1097/WNF.0000000000000024.
OBJECTIVE: To describe an unusual case of camptocormia responding to levodopa.METHODS: We present a case of camptocormia with a sustained excellent response to levodopa in a patient with negative dopamine transporter and no DYT 5 genetic mutations.RESULTS: We present a 52-year-old man with 2 years'
PMID 24614670

Identification of an enhancer region for immune activation in the human GTP cyclohydrolase I gene.

Liang Y1, Inagaki H, Hao Q, Sakamoto M, Ohye T, Suzuki T, Ichinose H.Author information 1Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama 226-8501, Japan.AbstractGTP cyclohydrolase I (GCH) catalyzes the first and rate limiting step reaction for the de novo synthesis of 5,6,7,8-tetrahydrobiopterin (BH4). The expression of GCH is dramatically elevated by immune activation, while the mechanism remains to be elucidated. In this study, we investigated the transcription mechanism of the GCH gene using lipopolysaccharide (LPS) to stimulate mouse macrophage RAW264.7 cells. With luciferase assay, we found a highly conserved enhancer region spanning approximately 300 bp in intron 1 of GCH gene as a response element to LPS stimulation. The same enhancer region was also responsible for the induction of the GCH gene by IFN-γ and TNF-α in HUVECs. With electrophoresis mobility shift assay (EMSA) and site directed mutation analysis, we identified two key fragments containing C/EBP and Ets binding motifs within the enhancer. Furthermore, C/EBP-β was involved in LPS activated GCH transcription through direct binding to the enhancer shown by supershift, chromatin immunoprecipitation, and RNA interference experiments. In conclusion, our findings uncovered a novel mechanism of GCH transcriptional regulation by immune activation.
Biochemical and biophysical research communications.Biochem Biophys Res Commun.2013 Dec 6;442(1-2):72-8. doi: 10.1016/j.bbrc.2013.11.002. Epub 2013 Nov 9.
GTP cyclohydrolase I (GCH) catalyzes the first and rate limiting step reaction for the de novo synthesis of 5,6,7,8-tetrahydrobiopterin (BH4). The expression of GCH is dramatically elevated by immune activation, while the mechanism remains to be elucidated. In this study, we investigated the transcr
PMID 24220333

Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.

Lee JY1, Yang HJ, Kim JM, Jeon BS.Author information 1Department of Neurology, SMG-SNU Boramae Medical Center, Seoul, South Korea.AbstractOBJECTIVE: To describe the long-term follow-up data of Korean patients with GTP cyclohydrolase (GTPCH) I deficient dopa-responsive dystonia (DRD) with novel mutations and unusual long-lasting dyskinesias.
Parkinsonism & related disorders.Parkinsonism Relat Disord.2013 Dec;19(12):1156-9. doi: 10.1016/j.parkreldis.2013.08.003. Epub 2013 Sep 7.
OBJECTIVE: To describe the long-term follow-up data of Korean patients with GTP cyclohydrolase (GTPCH) I deficient dopa-responsive dystonia (DRD) with novel mutations and unusual long-lasting dyskinesias.METHODS: Clinical features and genetic testing results of GCH1 from 19 patients that included 4
PMID 24018121