The genetics of multiple sclerosis: review of current and emerging candidates [0.03%]
多发性硬化症的遗传学：现有及新兴候选基因综述
Maider Muñoz-Culla,Haritz Irizar,David Otaegui
Maider Muñoz-Culla
Multiple sclerosis (MS) is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it...
Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors [0.03%]
遗传性肿瘤易患疾病中预期寿命减少
D Gareth R Evans,Sarah Louise Ingham
D Gareth R Evans
There are several hereditary diseases that are a predisposition to early-onset tumors. These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel-Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familia...
Melissa C Southey,Zhi L Teo,Ingrid Winship
Melissa C Southey
For almost two decades, breast cancer clinical genetics has operated in an environment where a heritable cause of breast cancer susceptibility is identified in the vast minority of women seeking advice about their personal and/or family his...
Candidate genes of Waldenström's macroglobulinemia: current evidence and research [0.03%]
瓦登斯特罗姆巨球蛋白血症的候选基因：现有证据和研究方向
Giada Bianchi,Antonio Sacco,Shaji Kumar et al.
Giada Bianchi et al.
Waldenström's macroglobulinemia (WM) is a relatively uncommon, indolent malignancy of immunoglobulin M-producing B cells. The World Health Organization classifies it as a lymphoplasmacytic lymphoma and patients typically present with anemi...
Sonia Michail,Gilberto Bultron,R William Depaolo
Sonia Michail
Crohn's disease is an immune-related disorder characterized by inflammation of the gastrointestinal mucosa, which can occur in any area throughout the digestive tract. This life-long disease commonly presents with abdominal pain, diarrhea, ...
José L Barbero
José L Barbero
Cohesin is a ring-form multifunctional protein complex, which was discovered during a search for molecules that keep sister chromatids together during segregation of chromosomes during cell division. In the past decade, a large number of re...
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies [0.03%]
心律失常的基因突变：离子通道病近期证据述评
Pi-Yin Hsiao,Hui-Chun Tien,Chu-Pin Lo et al.
Pi-Yin Hsiao et al.
Over the past 15 years, molecular genetic studies have linked gene mutations to many inherited arrhythmogenic disorders, in particular, "ion channelopathies", in which mutations in genes encode functional units of ion channels and/or their ...
Association of deletion allele of insertion/deletion polymorphism in α2B adrenoceptor gene and hypertension with or without type 2 diabetes mellitus [0.03%]
α-肾上腺素受体基因插入/缺失多态性缺失等位基因与原发性高血压及其伴2型糖尿病的关系研究
Safaa I Tayel,Heba F Khader,Nesreen G El-Helbawy et al.
Safaa I Tayel et al.
Background: Vascular α2B-adrenoreceptors have the potential to increase blood pressure by mediating vasoconstriction. A nine-nucleotide deletion in the receptor enhances vasoconstriction and exacerbates hypertension. The...
The genetics of neuroendocrine prostate cancers: a review of current and emerging candidates [0.03%]
神经内分泌前列腺癌的遗传学：当前及新兴候选基因综述
M Hammad Ather,Tahmeena Siddiqui
M Hammad Ather
Prostate cancer (PC) displays a strong familial link and genetic factors; genes regulating inflammation may have a pivotal role in the disease. Epigenetic changes control chromosomal integrity, gene functions, and, ultimately, carcinogenesi...
Laura M Dominguez,Kelley M Dodson
Laura M Dominguez
The purpose of this review is to assess the current literature on deafness nonsyndromic autosomal dominant 2 (DFNA2) hearing loss and the mutations linked to this disorder. Hearing impairment, particularly nonsyndromic hearing loss, affects...