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ABSTRACT:Objective To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia.

目的 利用直接测序法对一中国汉族人X性连锁少汗性外胚叶发育不良家系进行基因诊断。

Objective: To identify EDA gene mutation in a pedigree of Han nationality in Xinjiang with X-linked hypohidrotic ectodermal dysplasia so as to provide a basis for gene and genetics diagnosis of this disorder.

目的:检测一新疆汉族X连锁少汗性外胚叶发育不全家系引起先天缺牙的EDA基因突变,为XLHED综合征的基因和遗传学研究提供理论依据。

Methods Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.

采用聚合酶链反应扩增该家系中两名临床诊断为X性连锁少汗性外胚叶发育不良的患者、患者父母以及100例健康对照者ED1基因的8个外显子,进行DNA直接测序。

ABSTRACT Pachyonychia congenita is an autosomal dominant genodermatosis characterized by ectodermal dysplasias, of which the hypertrop...

先天性厚甲症(Pachyonychia congenita,PC)系外胚叶缺陷病,是一种常染色体显性遗传性疾病。

Renal-cell carcinoma, clear-cell sarcoma, mesoblastic nephroma, rhabdoid tumour, and renal medullary carcinoma form a heterogeneous group of childhood renal malignancies known as non-Wilms' tumours.

肾细胞癌、透明细胞肉瘤、先天性中胚叶肾瘤、横纹肌样瘤以及肾髓质癌均为来自于名为非 Wilm 肿瘤的一种儿童肾脏恶性肿瘤。

Stem cells have the ability of tissue differentiation toward mesodermal tissue, such as: cartilage, bone and adipose tissue. Presently, it reports that there is the expression of mesenchymal stem cells in cartilage.

干细胞具有向中胚叶组织如软骨、骨、脂肪等组织分化的能力,最近的研究发现软骨中也有间充质干细胞的表达。

Here we address this question, focusing on SKPs, a cultured adult stem cell from the dermis that generates both neural and mesodermal progeny.

本文仅就 SKPs 对此问题进行研究, SKPs 是来自皮肤真皮层的一种成体干细胞,该类细胞可以生成神经源性和中胚叶来源的子代细胞。

Bioassay results revealed: compared with alcohol control, extracts at parameter 1, 4, 7 stimulated the absolute germination rate and potential, radicle growth, plumular axis growth, fresh weight, dry weight at different levels; extracts at parameter 2, 3 stimulated the all germination index except radicle growth and axis growth; extracts at parameter 6 stimulated all but radicle growth and fresh weight; extract at parameter 8 stimulated only the germination potential.

生物检测结果显示,与酒精对照相比:萃取参数1、4和7等条件苦楝叶提取物对杉木种子绝对发芽率、绝对发芽势、胚根长、胚轴长、鲜重和干重等发芽指标均表现出不同程度的促进作用,萃取参数2和3等条件苦楝叶提取对除胚根和胚轴外的各发芽指标起促进作用,萃取参数5条件苦楝叶提取物对除鲜重和干重外的各发芽指标起促进作用,萃取参数6条件苦楝叶提取物对除胚根和鲜重外的各发芽指标起促进作用,而萃取参数8条件苦楝叶提取物仅对绝对发芽势起促进作用。

Results Histologically, AT/RT was characterized by the presence of rhabdoid cells associated with various degrees of primitive neuroectodermal, epithelial or mesenchymal differentiation.

结果 非典型畸胎样/横纹肌样瘤具有特征性的横纹肌样细胞,伴有不同程度的原始神经外胚叶、上皮和间质分化。

The neurofibromas are multiple benign neoplasms of the peripheral nervous system , arising from mesodermally-derived Schwann cells

神经纤维瘤是外围神经系统的多发良性肿瘤,由中胚叶的雪氏细胞发生。

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As she looked at Warrington's manly face, and dark, melancholy eyes, she had settled in her mind that he must have been the victim of an unhappy attachment.

每逢看到沃林顿那刚毅的脸,那乌黑、忧郁的眼睛,她便会相信,他一定作过不幸的爱情的受害者。

Maybe they'll disappear into a pothole.

也许他们将在壶穴里消失

But because of its youthful corporate culture—most people are hustled out of the door in their mid-40s—it had no one to send.

但是因为该公司年轻的企业文化——大多数员工在40来岁的时候都被请出公司——一时间没有好的人选。