Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis [0.03%]
泰国一家族复发性骨纤维结构不良的RANKL新突变鉴定：病例报告及RANKL成骨硬化症综述
Pongtawat Lertwilaiwittaya,Bhoom Suktitipat,Phongphak Khongthon et al.
Pongtawat Lertwilaiwittaya et al.
Background: Osteopetrosis is a rare form of skeletal dysplasia characterized by increased bone density that leads to bone marrow failure, compressive neuropathy, and skeletal dysmorphism. Molecular diagnosis is essential ...
CHL1 deletion is associated with cognitive and language disabilities - Case report and review of literature [0.03%]
CHL1基因缺失与认知和语言障碍的关系-病例报告及文献回顾
Melissa Tsuboyama,Mohammed Anwar Iqbal
Melissa Tsuboyama
Background: There is a small, but growing number of reports of pediatric patients with terminal deletions at 3p26.3 involving only the cell adhesion molecule L1-like (CHL1) gene that has been found to have language delays...
Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population [0.03%]
CYP2A6和ABCC4基因多态性与巴西亚马逊地区慢性髓系白血病的保护作用相关
Natasha Monte,Karla B C C Pantoja,Juliana C G Rodrigues et al.
Natasha Monte et al.
Background: Susceptibility to Chronic Myeloid Leukemia (CML) may be modulated by genetic variables. However, the majority of previous investigations have focused on genetically homogeneous populations, resulting in a lack...
Genetic polymorphism of vitamin D receptors and plasminogen activator inhibitor-1 and osteonecrosis risk in childhood acute lymphoblastic leukemia [0.03%]
维生素D受体和纤溶酶原激活物抑制剂-1遗传多态性与儿童急性淋巴细胞白血病的骨坏死风险关联研究
Laila M Sherief,Mohamed Beshir,Nermin Raafat et al.
Laila M Sherief et al.
Background: Osteonecrosis (ON) is one of the major therapy-related complications in childhood acute lymphoblastic leukemia (ALL). The purpose of the current study is to assess the frequency of ON in children with ALL and ...
A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration [0.03%]
一种新的常染色体显性遗传的线粒体膜蛋白相关神经退行性疾病病例
Stuart Fraser,Mary Koenig,Laura Farach et al.
Stuart Fraser et al.
Background: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogeni...
In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs [0.03%]
TEX19与LIRE1的相互作用的计算机模拟以及TEX19基因错义SNP分析
Faisal A Alzahrani,Yousef MohammedRabaa Hawsawi,Hisham N Altayeb et al.
Faisal A Alzahrani et al.
Background: Testis expressed 19 (TEX19) is a specific human stem cell gene identified as cancer-testis antigen (CTA), which emerged as a potential therapeutic drug target. TEX19.1, a mouse paralog of human TEX19, can inte...
The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome [0.03%]
神经管缺陷和Klippel-Feil综合征均由VANGL1 P384R变异引起
Chen Cheng,Sheng Zhao,Xia Zhu et al.
Chen Cheng et al.
Background: Neural tube defect (NTD) is a common birth defect causing much death in the world. Variants in VANGL1 lead to NTD and caudal regression syndrome. NTD displays a complex phenotype encompassing both genetic and ...
The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis [0.03%]
CYP19A1基因变异及单倍型与乳腺癌发病风险、临床病理特征和预后之间的关系研究
Ahmad Mohammed Alwan,Fahimeh Afzaljavan,Jalil Tavakol Afshari et al.
Ahmad Mohammed Alwan et al.
Background: Different genetic variants in hormone-regulating pathways have been identified to influence the risk of breast cancer. This study aimed to evaluate the association of CYP19A1 rs10046 and rs700519 polymorphisms...
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China [0.03%]
基因组革命的准备：在香港和中国的深圳开展初级保健遗传咨询的态度、临床实践和培训需求
Man Wai Cecilia Yu,Jasmine Lee Fong Fung,Amy Pui Pui Ng et al.
Man Wai Cecilia Yu et al.
Purpose: The aim was to evaluate knowledge, attitudes, and clinical practice concerning medical genetics, genetic testing, and counseling among primary care physicians (PCPs) in Hong Kong and Shenzhen, China. ...
LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay [0.03%]
LAMB2新变异c.2885-9C>A影响最小基因检测试验中的RNA剪接
Xiaoyuan Wang,Huijie Xiao,Baige Su et al.
Xiaoyuan Wang et al.
Background: Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2 biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2 gene have been reported. However, the pathogeni...