Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments [0.03%]
Wiskott-Aldrich综合征：诊断、现有管理及新兴疗法
David Buchbinder,Diane J Nugent,Alexandra H Fillipovich
David Buchbinder
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder characterized by the triad of eczema, thrombocytopenia, and severe and often recurrent infections. Despite the rarity of this disorder, our understanding of...
Hypothesis of the neuroendocrine cortisol pathway gene role in the comorbidity of depression, type 2 diabetes, and metabolic syndrome [0.03%]
抑郁症、2型糖尿病和代谢综合征共病的神经内分泌糖皮质激素通路基因假说
Claudia Gragnoli
Claudia Gragnoli
Depression, type 2 diabetes (T2D), and metabolic syndrome (MetS) are often comorbid. Depression per se increases the risk for T2D by 60%. This risk is not accounted for by the use of antidepressant therapy. Stress causes hyperactivation of ...
Genetics of bipolar disorder [0.03%]
双相障碍的遗传学
Berit Kerner
Berit Kerner
Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has cele...
Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants [0.03%]
冠状动脉疾病的发病机制：侧重于遗传危险因素及遗传变异的鉴定
Sergi Sayols-Baixeras,Carla Lluís-Ganella,Gavin Lucas et al.
Sergi Sayols-Baixeras et al.
Coronary artery disease (CAD) is the leading cause of death and disability worldwide, and its prevalence is expected to increase in the coming years. CAD events are caused by the interplay of genetic and environmental factors, the effects o...
Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension [0.03%]
促进肾上腺皮质醛固酮生成、钠潴留和高血压的基因突变
Andreas G Moraitis,William E Rainey,Richard J Auchus
Andreas G Moraitis
Primary aldosteronism (PA) is the most common form of secondary hypertension, found in about 5% of all hypertension cases, and up to 20% of resistant hypertension cases. The most common forms of PA are an aldosterone-producing adenoma and i...
Gerrit Haaker,Albert Fujak
Gerrit Haaker
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN) protein that is mainly associated with proximal progressive muscle weakness and atrophy. ...
Association of PPARγ2 gene variant Pro12Ala polymorphism with hypertension and obesity in the aboriginal Qatari population known for being consanguineous [0.03%]
PPARγ2基因变异体Pro12Ala多态性与卡塔尔土著居民高血压和肥胖的相关性研究（该人群以近亲婚配著称）
Abdulbari Bener,Sarah Darwish,Abdulla Oaa Al-Hamaq et al.
Abdulbari Bener et al.
Aim: The aim of this study was to investigate the association of the Pro12Ala polymorphism of the human peroxisome proliferator-activated receptor gamma 2 (PPARγ2) gene with hypertension and obesity in a highly consangui...
Developments in the treatment of hemophilia B: focus on emerging gene therapy [0.03%]
血友病B治疗新进展：重点关注新兴基因疗法
Maria I Cancio,Ulrike M Reiss,Amit C Nathwani et al.
Maria I Cancio et al.
Hemophilia B is a genetic disorder that is characterized by a deficiency of clotting factor IX (FIX) and excessive bleeding. Advanced understanding of the pathophysiology of the disease has led to the development of improved treatment strat...
Cynthia Chehade,Johnny Awwad,Nadine Yazbeck et al.
Cynthia Chehade et al.
Background: Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic...
Braxton D Mitchell,Elizabeth A Streeten
Braxton D Mitchell
Osteoporotic fracture carries an enormous public health burden in terms of mortality and morbidity. Current approaches to identify individuals at high risk for fracture are based on assessment of bone mineral density and presence of other o...