Furthermore, mutations in TBX1 have been found in rare non-deleted patients. Despite having the same sized deletion, most VCFS/DGS patients exhibit significant clinical variability. Stochastic, environmental and genetic factors likely modify the phenotype of patients with the disorder. Here, we ...
Mutations in SOX9 are associated with male-to-female sex reversal in humans. To analyze Sox9 function during sex determination, we ectopically expressed th... Vidal,PI Valerie,Chaboissier,... - 《Nature Genetics》 被引量: 707发表: 2001年 A Second-Generation Genetic Linkage Map of Tilapia (Or...
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss 来自 掌桥科研 喜欢 0 阅读量: 46 摘要: The fact that hereditary hearing loss is the most common sensory disorder in humans is reflected by, among other things, an extraordinary ...
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. Molecular analysis of the human beta-galactosidase gene revealed six different mutations in 10 of 11 Japanese GM1-gangliosidosis patients. They were the on... K Yoshida,A Oshima,M ...
aIn humans, AF was reported as an isolated phenotype or a part of compound phenotype in patients harboring NKX2-5 mutations 在人, AF在怀有NKX2-5变化的患者报告了作为被隔绝的表现型或复合表现型的部分[translate] a风景优美,气候宜人,世界各地的游客纷纷沓来 The fine scenery, the pleasant weather,...
Aims/hypothesis Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the KATPchannels in pancreatic beta cells are a common cause of neon... AS Slingerland,R Nuboer,M Hadders-Algra,... - 《Diabetologia》 被引量: 229发表: 2006年 Modulation of Genetic and Epigenetic Biomarker...
Detection of these mutations suggests that the child has an AT/RT, rather than a MB/PNET, a finding with important prognostic value. 展开 关键词: Chromosomes, Human, Pair 22 Humans Medulloblastoma Neuroectodermal Tumors, Primitive Brain Neoplasms Monosomy DNA-Binding Proteins Chromosomal Proteins, ...
One study showed that infecting tomato plants containing the Tm-2 Gene with TMV strain Ltbl, resulted in point mutations in the 30 kDa movement protein31. TMV is well-known to be susceptible to environmental and evolutionary stressors and the emergence of mutants should not be surprising; ...
Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 (connexin 26) gene located on "DFNB1" locus (13q12) account for up to 50%... MH Chalesh...
In the aging process, differently than in the younger population, accumulation of mitochondria DNA mutations, impairment of oxidative phosphorylation and an imbalance in the expression of antioxidant enzymes result in further overproduction of ROS. The excess of ROS such as superoxide and hydrogen ...