NSTL国家科技图书文献中心

1. Rare RNF213 variants is related to early-onset intracranial atherosclerosis: A Chinese community-based study NSTL国家科技图书文献中心

Fang, Jianxun | Yang, Xinzhuang ... - 《Journal of stroke and cerebrovascular diseases》 - 2024,33(11) - 107982～107982 - 共7页

摘要：Background: The relationship between rare variants in Ring finger protein 213 (RNF213) and intracranial atherosclerosis (ICAS) remained unelucidated. Using whole-exome sequencing (WES) and high-resolu...

关键词： RNF213 | Rare variant | Intracranial atherosclerosis | Extracranial atherosclerosis

2. Identification of novel FBN1 variations implicated in congenital scoliosis SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Lin, Mao | Zhao, Sen ... - 《Journal of human genetics》 - 2020,65(3) - 221～230 - 共10页

摘要：Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function cau...

3. RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism

Fang, Jianxun | Yang, Xinzhuang ... - 《chinese medical journal》 - 2024,137(21) - 2552～2560 - 共9页

摘要：Moyamoya disease (MMD) is a cerebrovascular disorder characterized by a steno-occlusive internal carotid artery and compensatory vascular network formation. Although the precise pathogenic mechanism r...

关键词： Moyamoya disease | RNF213 | Polymorphism | p.R4810K | RS112735431 POLYMORPHISM | GENOMEWIDE ASSOCIATION | ISCHEMIC-STROKE | VARIANT | P.R4810K | POPULATION...

4. A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy

Yang, Xinzhuang | Zhang, Dingding ... - 《bmc medical genomics》 - 2023,16(1) - 共9页

摘要：Background Oculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis, ophthalmoplegia and weakness of the facial, pharyngeal and lim...

关键词： CGG repeat expansion | Long-read whole-genome sequencing | Neurodegenerative disease | Oculopharyngodistal myopathy | RILPL1

5. Genotype-Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5?-Reductase Deficiency

Gui, Ting | Yao, Fengxia ... - 《international journal of general medicine》 - 2022,15 - 6633～6643 - 共11页

摘要：Objective: The 5 alpha-reductase type 2 deficiency is mainly caused by mutations in the SRD5A2 gene. Our study aims to investigate the SRD5A2 gene mutations and their corresponding manifestations. Met...

关键词： 5?-reductase type 2 deficiency | androgen receptor insensitivity | disorders of sex development | differential diagnosis | 5-ALPHA-REDUCTASE TYPE-2 DEFICIENCY | COMPLETE ANDROGEN INSENSITIVITY | PREVALENCE | DIAGNOSIS | VARIANTS | GENETICS

6. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

Fan, Xin | Zhao, Sen ... - 《journal of genetics and genomics》 - 2021,48(5) - 396～402 - 共7页

摘要：Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations. Although the diagnost...

关键词： Short stature | Exome sequencing | Molecular diagnosis | Variants | Genes and growth | RARE VARIANTS | GENOMICS

7. Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

Tian, Wen | Huang, Yingzhao ... - 《Orphanet journal of rare diseases》 - 2020,15(1) - 共7页

摘要：Background: Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain in...

关键词： Macrodactyly | Phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) | AKT1 serine/threonine kinase 1 (AKT1) | Somatic mosaicism | Proteus syndrome | NATURAL-HISTORY | MUTATIONS | OVERGROWTH | MALFORMATIONS | DELINEATION...

8. Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study

Chen, Jia | Zhu, Qiankun ... - 《medical science monitor》 - 2018,24 - 5598～5609 - 共12页

摘要：
The present study aimed to evaluate whether the fat mass and obesity-associated (FTO) gene polymorphisms are associated with risk of intervertebral disc degeneration (IDD...

关键词： Genetic Linkage | Intervertebral Disc Degeneration | Low Back Pain | Polymorphism, Single Nucleotide | Prognosis | NUCLEUS PULPOSUS CELLS | VITAMIN-D-RECEPTOR | TAG SNP SELECTION | LOW-BACK-PAIN | LUMBAR...