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To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria (DSH) in conjunct with developmental delay.A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 28 2021 for abnormal skin pigmentation of the extremities and growth retardation for ...
Yu Zhang+6 more
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH).Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing.The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation ...
Changyin, Wang+6 more
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To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH).Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing.The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation ...
Changyin, Wang+6 more
openaire +3 more sources
Involvement of PU.1 in mouse adar-1 gene transcription induced by high-dose esiRNA
Adar-1 gene plays an important role in the negative regulation of RNA interference. We previously showed that increased adar-1 mRNA level was associated with the rebound of gene expression after RNAi suppression. In this study, we identified a PU.1 binding site upstream from transcription start point of adar-1 gene and is essential for the promoter ...
Tongde Wu+4 more
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Knockdown of c-myc expression via RNAi is expected to be an efficient approach to suppress tumor growth. In our preliminary study, we intraperitoneally injected different doses of c-myc-directed esiRNA (esic-MYC, c-myc-directed Escherichia coli expressed and enzyme digested siRNA) into C57BL6/6J mice with bearing B16 melanoma to investigate the ...
Jie Hong+3 more
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Adenosine Deaminases Acting on RNA (ADARs) are evolutionarily conserved enzymes known to convert adenosine to inosine in double-stranded RNAs and participate in host-virus interactions. Conducting a meta-analysis of available transcriptome data, we identified and characterised eight ADAR transcripts in Chlamys farreri, a farmed marine scallop ...
Enrico Bortoletto+5 more
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The RNA-dependent protein kinase PKR promoter is interferon (IFN) inducible and possesses a novel 15-base pair (bp) constitutive activator element, designated kinase conserved sequence (KCS), in addition to an IFN-stimulated response element (ISRE). Deletion of the KCS element or point mutations within the KCS element greatly reduce both basal and IFN ...
Simone Visosky Ward+3 more
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Introduction: Members of the adenosine deaminase acting on RNA (ADAR) family of enzymes consist of double-stranded RNA-binding domains (dsRBDs) and a deaminase domain (DD) that converts adenosine (A) into inosine (I), which acts as guanosine (G) during translation.
Md Thoufic Anam Azad+2 more
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The F11 receptor (F11R) gene encoding junctional adhesion molecule A has been associated with gastric cancer (GC) and colorectal cancer (CRC), in which its role and regulation remain to be further elucidated. Recently F11R was also identified as a potential target of adenosine-to-inosine (A-to-I) mediated by the adenosine deaminases acting on RNA ...
Chuanqing Bao+8 more
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AbstractBackground & AimsOur previous study found that rs4845384 in ADAR1 gene to be associated with HBeAg seroconversion. However, the effect of rs4845384 on HBsAg seroclearance is unknown. To assess the relationship between rs4845384 and HBsAg seroclearance.MethodsTwo independent case–control studies were conducted to test whether rs4845384 in ...
Xiaopan Wu+9 more
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