GSTM1 null genotype in COPD and lung cancer: evidence of a modifier or confounding effect? [0.03%]
COPD和肺癌中GSTM1零等位基因：修饰效应或混杂效应的证据？
Robert P Young,Raewyn J Hopkins,Bryan A Hay et al.
Robert P Young et al.
Background: Studies over the past two decades have reported associations between GSTM1 (glutathione S-transferase mu 1) null genotype and chronic obstructive pulmonary disease (COPD) or lung cancer. However, a modifier or...
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment [0.03%]
乙酰谷氨酸合成酶缺乏症的遗传学、流行病学、病理生理及治疗研究进展
Nicholas Ah Mew,Ljubica Caldovic
Nicholas Ah Mew
The conversion of ammonia into urea by the human liver requires the coordinated function of the 6 enzymes and 2 transporters of the urea cycle. The initial and rate-limiting enzyme of the urea cycle, carbamylphosphate synthetase 1 (CPS1), r...
Genetic variations and associated pathophysiology in the management of epilepsy [0.03%]
遗传变异及在癫痫治疗中的病理生理学作用
John C Mulley,Leanne M Dibbens
John C Mulley
The genomic era has enabled the application of molecular tools to the solution of many of the genetic epilepsies, with and without comorbidities. Massively parallel sequencing has recently reinvigorated gene discovery for the monogenic epil...
Robert P Young,Raewyn J Hopkins,Gregory D Gamble et al.
Robert P Young et al.
Epidemiological studies indicate that tobacco smoke exposure accounts for nearly 90% of cases of chronic obstructive pulmonary disease (COPD) and lung cancer. However, genetic factors may explain why 10%-30% of smokers develop these complic...
A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder? [0.03%]
具有视耳椎谱系的黎巴嫩家系及其文献复习：视耳椎谱系是一种遗传异质性疾病吗？
Chantal Farra,Khaled Yunis,Nadine Yazbeck et al.
Chantal Farra et al.
Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocul...
Identifying the genetic components underlying the pathophysiology of movement disorders [0.03%]
鉴定运动障碍病理生理学中遗传因素成分的功能研究
Mario Ezquerra,Yaroslau Compta,Maria J Marti
Mario Ezquerra
Movement disorders are a heterogeneous group of neurological conditions, few of which have been classically described as bona fide hereditary illnesses (Huntington's chorea, for instance). Most are considered to be either sporadic or to fea...
Genetic basis of Parkinson's disease: inheritance, penetrance, and expression [0.03%]
帕金森病的遗传基础：遗传性、表现度和表达形式
Claudia Schulte,Thomas Gasser
Claudia Schulte
Parkinson's disease can be caused by rare familial genetic mutations, but in most cases it is likely to result from an interaction between multiple genetic and environmental risk factors. Over recent years, many variants in a growing number...
Raja T Abboud,Tanya N Nelson,Benjamin Jung et al.
Raja T Abboud et al.
Severe α1-antitrypsin deficiency (AATD) is an inherited disorder, leading to development of emphysema in smokers at a relatively young age with disability in their forties or fifties. The emphysema results from excessive elastin degradatio...
DataGenno: building a new tool to bridge molecular and clinical genetics [0.03%]
DataGenno：构建一种新工具以连接分子遗传学和临床遗传学
Fabricio F Costa,Luciano S Foly,Marcelo P Coutinho
Fabricio F Costa
Clinical genetics is one of the most challenging fields in medicine, with thousands of children born every year with congenital defects that have no satisfactory diagnosis. There are more than 6,000 known single-gene disorders that can caus...
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents [0.03%]
杜氏肌营养不良的新型化合物治疗药剂：新兴的药物疗法
Steve D Wilton,Sue Fletcher
Steve D Wilton
The identification of dystrophin and the causative role of mutations in this gene in Duchenne and Becker muscular dystrophies (D/BMD) was expected to lead to timely development of effective therapies. Despite over 20 years of research, cort...