ura

神经氨酸酶缺乏症
  • 文章类型: Case Reports
    我们介绍了一名41岁的男性患者,该患者被诊断为孤立的左肾,囊肿很少。他有单侧肾脏发育不全(URA)的家族史,但没有常染色体显性多囊肾病(ADPKD)。基因检测显示PKD1基因内含子11杂合核苷酸变异c.2854-23G>T,但URA中没有涉及基因突变。全球仅记录了8例带有一个肾脏的ADPKD。PC1和PC2中断,引起初级纤毛畸形或缺失,导致与第一次胚胎发育有关的改变。Cillia在许多疾病中的重要意义将需要更多的研究。
    We present the case of a 41-year-old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD). Genetic testing revealed PKD1 gene intron 11 heterozygous nucleotide variant c.2854-23G>T, but no gene mutation implicated in URA. Just eight cases of ADPKD with one kidney have been recorded globally. PC1 and PC2 disruption, causing primary cilia malformation or absence resulting in relevant in the first embryonic development alteration. Cillia\'s crucial significance in many diseases will require more research.
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  • 文章类型: Case Reports
    该病例报告概述了使用改良的Leighton's牵开器作为严重牙体发育不全患者的犬类牵开方法。有侵袭性牙周炎病史,牙齿脱落和特发性牙根吸收影响多颗牙齿。治疗涉及上部可拆卸矫治器与下部固定矫治器的组合,目的是改善患者的美学和功能。同时平衡最小化治疗持续时间和修改治疗机制以降低正畸风险的需要。
    This case report outlines the use of a modified Leighton\'s retractor as a method for canine retraction in a patient with severe hypodontia, a history of aggressive periodontitis with tooth loss and idiopathic root resorption affecting multiple teeth. Treatment involved an upper removable appliance in combination with a lower sectional fixed appliance with the aim of improving aesthetics and function for the patient, whilst balancing the need to minimise treatment duration and modify treatment mechanics to reduce the orthodontic risks.
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  • 文章类型: Journal Article
    \'Acro-renal syndrome\' refers to co-occurrence of congenital renal and limb anomalies. The term acro-renal syndrome was coined by Curran et al. in 1972 though Dieker and Opitz were the first to report this phenomenon in three male patients in 1969. The common limb defects include oligodactyly, ectrodactyly, syndactyly or brachydactyly anomalies of the carpal and tarsal bones and the common renal anomalies observed are unilateral renal agenesis (URA), bilateral renal hypoplasia, ureteric hypoplasia, hydroureteronephrosis and duplication abnormalities. The acro-renal syndrome as originally described is rare, reported only in ∼20 patients in the international literature. We report a 23-year-old male patient with renal anomalies in the form of absent right kidney, left-sided vesicoureteric reflux (VUR) and skeletal anomalies viz short radius, absent first metacarpal ray in left hand and left undescended testis, consistent with Dieker\'s type acro-renal syndrome. Apart from the classical acro-renal syndrome, several anomalies of acro-renal patterns and the abnormal gene loci involved are described in the literature. This article is a comprehensive review of the development of kidneys, types of acro-renal syndromes, congenital anomalies of the kidney and urinary tract (CAKUT), syndromes associated with combined limb and renal anomalies, and anomalies associated with URA.
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  • 文章类型: Journal Article
    转移RNA(tRNA)基因和其他RNA聚合酶III转录单位分散在整个核基因组中的高拷贝,并且可以拮抗RNA聚合酶II在其直接染色体位点的转录。先前在酿酒酵母中的工作发现,这种局部沉默需要靠近核仁的tRNA基因的亚核聚类。在这里,我们表明沉默也需要核小体的参与,尽管核小体相互作用的性质似乎与其他形式的转录沉默不同。对组蛋白氨基酸取代的广泛文库的分析发现了影响沉默的大量残基,在组蛋白N末端尾巴和核小体盘表面。所涉及的磁盘表面上的残留物与影响其他调节现象的残留物大不相同。与影响tgm沉默的大量组蛋白残基一致,对染色质修饰突变的调查表明,还需要几种已知影响核小体修饰和定位的酶。这些酶包括Rpd3脱乙酰酶复合物,Hos1脱乙酰酶,Glc7磷酸酶,和RSC核小体重塑活性,但不是其他沉默形式或tRNA基因位点的边界元件功能所需的多种其他活性。讨论了tRNA基因转录复合物与局部染色质之间的通讯模型。
    Transfer RNA (tRNA) genes and other RNA polymerase III transcription units are dispersed in high copy throughout nuclear genomes, and can antagonize RNA polymerase II transcription in their immediate chromosomal locus. Previous work in Saccharomyces cerevisiae found that this local silencing required subnuclear clustering of the tRNA genes near the nucleolus. Here we show that the silencing also requires nucleosome participation, though the nature of the nucleosome interaction appears distinct from other forms of transcriptional silencing. Analysis of an extensive library of histone amino acid substitutions finds a large number of residues that affect the silencing, both in the histone N-terminal tails and on the nucleosome disk surface. The residues on the disk surfaces involved are largely distinct from those affecting other regulatory phenomena. Consistent with the large number of histone residues affecting tgm silencing, survey of chromatin modification mutations shows that several enzymes known to affect nucleosome modification and positioning are also required. The enzymes include an Rpd3 deacetylase complex, Hos1 deacetylase, Glc7 phosphatase, and the RSC nucleosome remodeling activity, but not multiple other activities required for other silencing forms or boundary element function at tRNA gene loci. Models for communication between the tRNA gene transcription complexes and local chromatin are discussed.
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