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a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation (同)mongolianism, Down''s syndrome, Down_syndrome, trisomy_21

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蒙古症,モンゴリズム(白痴の一種)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/06/01 08:30:42」(JST)

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Two novel C-type lectins with a low-density lipoprotein receptor class A domain have antiviral function in the shrimp Marsupenaeus japonicus.

Xu YH, Bi WJ, Wang XW, Zhao YR, Zhao XF, Wang JX.Author information The Key Laboratory of Plant Cell Engineering and Germplasm Innovation of Ministry of Education, School of Life Sciences, Shandong University, Jinan, Shandong 250100, China; Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, School of Life Sciences, Shandong University, Jinan, Shandong 250100, China.AbstractC-type lectins (CTLs) are pattern-recognition receptors (PRRs) that play important roles in immune response. In this study, two new CTLs containing a low-density lipoprotein receptor class A domain (LDLR) and a carbohydrate recognition domain (CRD) were identified in Marsupenaeus japonicus and designated as LdlrLec1 and LdlrLec2. The two CTLs expressed in all the tested tissues of shrimp, however, LdlrLec1 was mainly expressed in hemocytes, heart, gill and intestines, whereas LdlrLec2 was expressed in hepatopancreas and heart. The expression patterns of both LdlrLec1 and LdlrLec2 mRNA were obviously upregulated upon white spot syndrome virus (WSSV) challenge. Injection of recombinant LdlrLec1 or LdlrLec2 into shrimp inhibited WSSV replication, whereas knocking down the expression of LdlrLec1 and LdlrLec2 by RNA interference increased WSSV replication in vivo. The infection rates of WSSV incubated with LdlrLecs were reduced significantly compared with the control group. The LdlrLec proteins could interact with VP28, a major envelope protein of WSSV, which is necessary for the attachment and penetration of WSSV into shrimp cells. These results indicate that LdlrLec1 and LdlrLec2 may function in antiviral response by binding to WSSV and inhibiting their pervasion and replication in shrimp.
Developmental and comparative immunology.Dev Comp Immunol.2014 Feb;42(2):323-32. doi: 10.1016/j.dci.2013.10.003. Epub 2013 Oct 16.
C-type lectins (CTLs) are pattern-recognition receptors (PRRs) that play important roles in immune response. In this study, two new CTLs containing a low-density lipoprotein receptor class A domain (LDLR) and a carbohydrate recognition domain (CRD) were identified in Marsupenaeus japonicus and desig
PMID 24140299

Intracellular distribution of differentially phosphorylated dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A).

Kaczmarski W, Barua M, Mazur-Kolecka B, Frackowiak J, Dowjat W, Mehta P, Bolton D, Hwang YW, Rabe A, Albertini G, Wegiel J.Author information Department of Developmental Neurobiology, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York.AbstractThe gene encoding dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) is located within the Down syndrome (DS) critical region of chromosome 21. DYRK1A interacts with a plethora of substrates in the cytosol, cytoskeleton, and nucleus. Its overexpression is a contributing factor to the developmental alterations and age-associated pathology observed in DS. We hypothesized that the intracellular distribution of DYRK1A and cell-compartment-specific functions are associated with DYRK1A posttranslational modifications. Fractionation showed that, in both human and mouse brain, almost 80% of DYRK1A was associated with the cytoskeleton, and the remaining DYRK1A was present in the cytosolic and nuclear fractions. Coimmunoprecipitation revealed that DYRK1A in the brain cytoskeleton fraction forms complexes with filamentous actin, neurofilaments, and tubulin. Two-dimensional gel analysis of the fractions revealed DYRK1A with distinct isoelectric points: 5.5-6.5 in the nucleus, 7.2-8.2 in the cytoskeleton, and 8.7 in the cytosol. Phosphate-affinity gel electrophoresis demonstrated several bands of DYRK1A with different mobility shifts for nuclear, cytoskeletal, and cytosolic DYRK1A, indicating modification by phosphorylation. Mass spectrometry analysis disclosed one phosphorylated site in the cytosolic DYRK1A and multiple phosphorylated residues in the cytoskeletal DYRK1A, including two not previously described. This study supports the hypothesis that intracellular distribution and compartment-specific functions of DYRK1A may depend on its phosphorylation pattern. © 2013 Wiley Periodicals, Inc.
Journal of neuroscience research.J Neurosci Res.2014 Feb;92(2):162-73. doi: 10.1002/jnr.23279. Epub 2013 Nov 22.
The gene encoding dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) is located within the Down syndrome (DS) critical region of chromosome 21. DYRK1A interacts with a plethora of substrates in the cytosol, cytoskeleton, and nucleus. Its overexpression is a contributing factor to
PMID 24327345

Functional connectivity of the cortex of term and preterm infants and infants with Down's syndrome.

Imai M, Watanabe H, Yasui K, Kimura Y, Shitara Y, Tsuchida S, Takahashi N, Taga G.Author information Graduate School of Education, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.AbstractNear-infrared spectroscopy (NIRS) imaging studies have revealed the functional development of the human brain in early infancy. By measuring spontaneous fluctuations in cerebral blood oxygenation with NIRS, we can examine the developmental status of the functional connectivity of networks in the cortex. However, it has not been clarified whether premature delivery and/or chromosomal abnormalities affect the development of the functional connectivity of the cortex. In the current study, we investigated the spontaneous brain activity of sleeping infants who were admitted to a neonatal intensive care unit at term age. We classified them into the 3 following infant groups: (i) term-or-late-preterm, (ii) early-preterm, and (iii) Down's syndrome (DS). We used multichannel NIRS to measure the spontaneous changes in oxygenated hemoglobin (oxy-Hb) and deoxygenated hemoglobin (deoxy-Hb) at 10 measurement channels, which covered the frontal, temporal, and occipital regions. In order to reveal the functional connectivity of the cortical networks, we calculated the temporal correlations of the time-course signals among all of the pairs of measurement channels. The functional connectivity was classified into the 4 following types: (i) short-range, (ii) contralateral-transverse, (iii) ipsilateral-longitudinal, and (iv) control. In order to examine whether the local properties of hemodynamics reflected any pathological conditions, we calculated the phase differences between the oxy- and deoxy-Hb time-course signals in the 3 groups. The statistical analyses of the functional connectivity data showed main effects of group and the types of connectivity. For the group effect, the mean functional connectivity of the infants in the term-or-late-preterm group did not differ from that in the early-preterm group, and the mean functional connectivity of the infants in the DS group was lower than that in the other 2 groups. For the effect of types of connectivity, short-range connectivity was highest compared to any of the other types of connectivity, and the second highest connectivity was the contralateral-transverse one. The phase differences between the oxy- and deoxy-Hb changes showed that there were significant differences between the DS group and the other 2 groups. Our findings suggested that the development of the functional connectivity of cortical networks did not differ between term-or-late-preterm infants and early-preterm infants around term-equivalent ages, while DS infants had alterations in their functional connectivity development and local hemodynamics at term age. The highest short-range connectivity and the second highest contralateral-transverse connectivity suggested that the precursors for the basic cortical networks of functional connectivity were present at term age.
NeuroImage.Neuroimage.2014 Jan 15;85 Pt 1:272-8. doi: 10.1016/j.neuroimage.2013.04.080. Epub 2013 Apr 28.
Near-infrared spectroscopy (NIRS) imaging studies have revealed the functional development of the human brain in early infancy. By measuring spontaneous fluctuations in cerebral blood oxygenation with NIRS, we can examine the developmental status of the functional connectivity of networks in the cor
PMID 23631984