5pトリソミー
WordNet
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
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English Journal
- Chromosome 21-derived hsa-miR-155-5p regulates mitochondrial biogenesis by targeting Mitochondrial Transcription Factor A (TFAM).
- Quiñones-Lombraña A1, Blanco JG2.
- Biochimica et biophysica acta.Biochim Biophys Acta.2015 Jul;1852(7):1420-7. doi: 10.1016/j.bbadis.2015.04.004. Epub 2015 Apr 11.
- The regulation of mitochondrial biogenesis is under the control of nuclear genes including the master Mitochondrial Transcription Factor A (TFAM). Recent evidence suggests that the expression of TFAM is regulated by microRNAs (miRNAs) in various cellular contexts. Here, we show that hsa-miR-155-5p,
- PMID 25869329
- MicroRNA-194-5p could serve as a diagnostic and prognostic biomarker in myelodysplastic syndromes.
- Choi JS1, Nam MH1, Yoon SY1, Kang SH2.
- Leukemia research.Leuk Res.2015 Jul;39(7):763-8. doi: 10.1016/j.leukres.2015.04.013. Epub 2015 Apr 25.
- Trisomy 8 and trisomy 1q are the most frequent chromosomal abnormalities in Korean patients with myelodysplastic syndrome (MDS). MicroRNA (miRNA) deregulation is involved in the development of hematological malignancies, including MDS, and cancer-associated genomic regions are known to encode miRNAs
- PMID 25975751
- Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).
- Walters-Sen LC1, Windemuth K1, Angione K1, Nandhlal J1, Milunsky JM2.
- European journal of medical genetics.Eur J Med Genet.2015 May;58(5):305-9. doi: 10.1016/j.ejmg.2015.03.004. Epub 2015 Apr 6.
- Submicroscopic duplications of 5p13 have been recently reported in several cases, warranting the description of a new clinical entity (Chromosome 5p13 Duplication Syndrome; MIM 613174). These microduplications, while variable in size, all contain at least part of the NIPBL gene. Patients with duplic
- PMID 25858703
Japanese Journal
- P1-IS-53 Prenatal 3D-ultrasound diagnosis of Exencephaly associated with partial trisomy 2p and distal 5p deletion
- Kim Sa Jin,Kim Min Jeong,Kim Myung Shin,Park In Yang,Hur Soo Young,Lee Gui Sera,Shin Joung Chul
- 日本産科婦人科學會雜誌 59(2), 775, 2007-02-01
- NAID 110006804439
- Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20
- OKADA Michiko,USAMI Akemi,OKAJIMA Kaori,YAMADA Miwako,YAMAGUCHI Yuka,UMEZAKI Izumi,MATSUDA Yoshio,OHTA Hiroaki
- Congenital anomalies 45(4), 161-164, 2005-12-01
- NAID 10027384697
- A-11 Two sisters with 5p partial trisomy syndrome.
- HASEGAWA D.,NUMABE H.,KOISHI H.,TSUTIDA N.,SASAMOTO M.,MIYAJIMA T.,HOSHIKA A.
- Congenital anomalies 40(3), 201, 2000-09
- NAID 110002785677
★リンクテーブル★
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- 英
- trisomy 5p
- 関
- 5番染色体