Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH [0.03%]
临床和分子的特征分析一个新的22q13缺失-重复综合症患者使用微阵列 Comparative Genomic Hybridization(CGH)技术
Isabel Ochando,Antonio Urbano,Juana Rubio et al.
Isabel Ochando et al.
Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global deve...
Skeletal muscle SIRT1 and the genetics of metabolic health: therapeutic activation by pharmaceuticals and exercise [0.03%]
骨骼肌SIRT1与代谢健康遗传学：药物和运动的激活疗法
Cameron B Williams,Brendon J Gurd
Cameron B Williams
Silent mating type information regulation 2 homolog 1 (SIRT1) is implicated in the control of skeletal muscle mitochondrial content and function through deacetylation of peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α...
Diana Tasher,Ilan Dalal
Diana Tasher
Severe combined immunodeficiency (SCID) syndromes are characterized by a block in T lymphocyte differentiation that is variably associated with abnormal development of other lymphocyte lineages (B and/or natural killer [NK] cells), leading ...
Association analysis of genetic variations of eNOS and α2β1 integrin genes with type 2 diabetic retinopathy [0.03%]
eNOS和α2β1整合素基因多态性与糖尿病视网膜病变的关联分析
Rania Azmy,Ashraf Dawood,Ayman Kilany et al.
Rania Azmy et al.
Background: Diabetic retinopathy (DR) is classically defined as a microvasculopathy that primarily affects the small blood vessels of the inner retina as a complication of diabetes mellitus. It has been suggested that nit...
Susan E Sparks
Susan E Sparks
Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation...
Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis [0.03%]
家族性淀粉样变性神经病变：转甲状腺素介导的淀粉样变性的当前和新兴治疗选择
Ernst Hund
Ernst Hund
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a fatal clinical disorder characterized by extracellular deposition of abnormal fibrils derived from misfolded, normally soluble transthyretin (TTR) molecules. The disease is most c...
Tabinda J Burney,Jane C Davies
Tabinda J Burney
Gene therapy is being developed as a novel treatment for cystic fibrosis (CF), a condition that has hitherto been widely-researched yet for which no treatment exists that halts the progression of lung disease. Gene therapy involves the tran...
Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation [0.03%]
慢性淋巴细胞性白血病相关的染色体异常和微小核糖核酸失调
Yvonne Kiefer,Christoph Schulte,Markus Tiemann et al.
Yvonne Kiefer et al.
Chronic lymphocytic leukemia is the most common leukemia in adults. By cytogenetic investigations major subgroups of the disease can be identified that reflect different routes of tumor development. Of these chromosomal deviations, trisomy ...
Martin H Maurer
Martin H Maurer
Piera Rizzolo,Valentina Silvestri,Mario Falchetti et al.
Piera Rizzolo et al.
Breast cancer is the most common cancer among women, accounting for about 30% of all cancers. In contrast, breast cancer is a rare disease in men, accounting for less than 1% of all cancers. Up to 10% of all breast cancers are hereditary fo...