The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease [0.03%]
罕见遗传病家族基因检测的益处与挑战——法布雷病中的启示
Dominique P Germain,Sergey Moiseev,Fernando Suárez-Obando et al.
Dominique P Germain et al.
Background: Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disea...
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children [0.03%]
GDF2纯合子终止突变导致循环BMP9和BMP10的缺乏并与儿童PAH或“HHT样”综合征相关联
Joshua Hodgson,Lidia Ruiz-Llorente,Jamie McDonald et al.
Joshua Hodgson et al.
Background: Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH), yet loss of circulating BMP9 has not...
Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2 [0.03%]
COL5A2同义突变引起的经典型埃勒斯-丹洛斯综合征病例的临床和基因分析
Na Ma,Zhenhua Zhu,Jing Liu et al.
Na Ma et al.
Background: Classical Ehlers-Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2. The majority of the COL5A2 mutations reported to date ...
Genetic variants related to successful migraine prophylaxis with verapamil [0.03%]
与维拉帕米偏头痛成功预防相关的遗传变异体
Fred Michael Cutrer,Ann M Moyer,Elizabeth J Atkinson et al.
Fred Michael Cutrer et al.
Background: Currently, there is no biologically based rationale for drug selection in migraine prophylactic treatment. Methods: To inve...
Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations [0.03%]
含脱髓鞘蛋白零基因突变的韩国查理-玛蒂欧- Tooth病患者的临床及遗传特征分析
Hye Jin Kim,Soo Hyun Nam,Hye Mi Kwon et al.
Hye Jin Kim et al.
Background: Charcot-Marie-Tooth disease (CMT) is the most common disorder of inherited peripheral neuropathies characterized by distal muscle weakness and sensory loss. CMT is usually classified into three types, demyelin...
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants [0.03%]
CPLANE1变异两兄弟乔贝尔综合征的临床异质性和家族内变异
Xiujuan Zhang,Yue Shen,Ping Li et al.
Xiujuan Zhang et al.
Background: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain-hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical hete...
Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta [0.03%]
BMP1新突变导致的一种新的常染色体隐性成骨不全表型
Lei Xi,Shanshan Lv,Hao Zhang et al.
Lei Xi et al.
Background: Osteogenesis imperfecta (OI) is a rare heritable bone disorder that is characterised by increased bone fragility and recurrent fractures. To date, only 19 OI patients have been reported, as caused by BMP1 gene...
DNA methylation of tumour necrosis factor (TNF) alpha gene is associated with specific blood fatty acid levels in a gender-specific manner [0.03%]
肿瘤坏死因子(TNF)α基因的DNA甲基化与性别特异性的血液脂肪酸水平相关
Bethan Hussey,Richard P Steel,Boakye Gyimah et al.
Bethan Hussey et al.
Background: Fatty acids, specifically polyunsaturated fatty acids (PUFAs) play an important role in inflammation and its resolution, however, their interaction with the epigenome is relatively unexplored. Here we investig...
A glimpse of the genetics of young-onset Parkinson's disease in Central Asia [0.03%]
中亚年轻发病帕金森病的遗传学特征初探
Rauan Kaiyrzhanov,Akbota Aitkulova,Jana Vandrovcova et al.
Rauan Kaiyrzhanov et al.
Background: Knowledge of the genetic background of many human diseases is currently lacking from genetically undiscovered regions, including Central Asia. Kazakhstan is the first Central Asian country where the genetic st...
Investigating the ACE2 polymorphisms in COVID-19 susceptibility: An in silico analysis [0.03%]
COVID-19易感性ACE2多态性的研究：一项基于计算的分析
Nasser Pouladi,Sepehr Abdolahi
Nasser Pouladi
Background: Novel coronavirus (SARS-CoV-2) became an epidemic disease and lead to a pneumonia outbreak first in December 2019 in Wuhan, China. The symptoms related to coronavirus disease-19 (COVID-19) were different rangi...