查询词典 mutations

Mutations in DKC1 gene encoding dyskerin are responsible for the X-linked dyskeratosis congenita.

DKC存在X染色体隐性、常染色体显性和隐性三种遗传方式。

Loss-of-function mutations in telomerase complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, both diseases that predispose to acute myeloid leukemia.

端粒末端转移酶的复杂基因丧失功能性突变可导致骨髓衰竭、先天性角化不良及获得性再生障碍性贫血，这些疾病都可以诱发急性髓样白血病。

Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis.

分别编码端粒末端转移酶反转录酶和端粒酶RNA的hTERT和hTR基因的种系突变导致常染色体显性先天性角化不良，它是一种罕见的因为再生障碍性贫血和肺纤维化而早亡的遗传性疾病。

Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis.

端粒酶逆转录酶的编码基因hTERT和端粒酶RNA的编码基因hTR发生种系突变时，可引起常染色体显性先天性角化不良，这是一种罕见的遗传性疾病，它与再生障碍性贫血和肺纤维变性所致的早产儿死亡具有相关性。

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。

In addition, DNA methylation profiles segregated patients with CEBPA aberrations from other subtypes of leukemia, defined four epigenetically distinct forms of AML with NPM1 mutations, and showed that established AML1-ETO, CBFb-MYH11, and PML-RARA leukemia entities are associated with specific methylation profiles.

此外，根据DNA甲基化的不同可将CEBPA基因畸变与其他亚型的白血病区分开来，并定义出四个不同表型的伴NPM1基因突变的急性髓系白血病，并且表明AML1-ETO， CBFb-MYH11，和 PML-RARA 三种白血病类型与特定的甲基化有关。

To investigate the physiological importance of particular vWF domains, we have introduced mutations into murine vWF cDNA inhibiting vWF binding to glycoprotein Ib, GpIIbIIIa, and to fibrillar collagen.

为研究vWF特定区域的生理作用，我们在鼠vWF的cDNA上引入变异株，抑制vWF与糖蛋白lb、GpIIbIIIa以及纤维胶原结合。

To investigate the disorder of Wnt signal transduction pathway in tumorigenesis, we studied the adenomatous polyposis coli gene and β-catenin gene mutations in desmoid-type fibromatosis.

本研究分析了韧带样型纤维瘤病中APC和β-catenin基因突变，探讨Wnt通路中APC/β-catenin基因异常在肿瘤发生中的作用。

Here, we show that mutations in GPR56, which encodes an orphan G protein–coupled receptor with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria.

作者发现编码一个带有较大胞外区的孤儿G蛋白耦联受体的基因GPR56的突变导致人类大脑皮质畸形（双侧额顶多小脑回畸形BFPP）。

60Co-γray was a useful mutagen in induced mutation breeding .After treated with 60Co-γray ,free-living conchocelis of wild Porphyra haitanensis were induced and represented in offsprings. Purple mutant and excellent practical characters strains were selected from a lot of gametophytic blades. Single cell clone and enzymolysis were used to propagate fast in pure strains of induced mutations.

坛紫菜野生丝状体经一定剂量60Co-γ射线辐照后，子代叶状体发生了变异，经大量培养后筛选出紫色突变体（3号Ⅰ）和经济性状优良的个体（7号Ⅰ和7号Ⅱ），通过体细胞酶解和单克隆技术快速获得诱变选育纯系，并对其主要经济性状进行了研究。

The two-acre Dunbar Community Garden in Little Rock has served as a model for several years.

几年来，坐落于小石城，占地两英亩的邓巴社区菜园树立了一个标杆。

Jerry points to the jacket hanging in the bathroom. It's ruined, and unwearable What?

杰瑞指着洗手间里挂着的夹克，毁了，不能穿了）什么？