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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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