Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Ruen Yao"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background The MACF1 gene, found on chromosome 1p34.3, is vital for controlling cytoskeleton dynamics, cell movement, growth, and differentiation. It consists of 101 exons, spanning over 270 kb. The 16p13.11 microduplication syndrome results
Externí odkaz:
https://doaj.org/article/59b165c410704e1fae2de1f299bd75f5
Autor:
Guoying Chang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Ruen Yao, Yu Ding, Juan Li, Xiaodong Huang, Yongnian Shen, Tingting Yu, Jian Wang, Xiumin Wang
Publikováno v:
BMC Endocrine Disorders, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background ABCC8 variants can cause hyperinsulinemia by activating or deactivating gene expression. This study used targeted exon sequencing to investigate genetic variants of ABCC8 and the associated phenotypic features in Chinese patients
Externí odkaz:
https://doaj.org/article/7703f98d562c4ce492db922700c8620a
Autor:
Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104940- (2024)
Summary: Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases
Externí odkaz:
https://doaj.org/article/feaa18e3ae4044efa81e50c3d6abb23f
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal domin
Externí odkaz:
https://doaj.org/article/9c8279160a45475284a3b828201879f5
Autor:
Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Background Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrich
Externí odkaz:
https://doaj.org/article/c1539a08f2d94f69bee56d40c7fa0456
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
SATB1 variants causing developmental delay with dysmorphic facies and dental anomalies have been reported in a small cohort. Most patients present epilepsy as a main clinical feature in neurodevelopmental disorders; however, its treatment is unknown.
Externí odkaz:
https://doaj.org/article/6695d2e8527e49039acdfdad2da4fecd
Autor:
Wenxiu Chan, Shiwei Yang, Jian Wang, Shilu Tong, Minyin Lin, Pengtao Lu, Ruen Yao, Lanping Wu, Lijun Chen, Ying Guo, Jie Shen, Tingliang Liu, Fen Li, Huiwen Chen, Hao Zhang, Shushui Wang, Lijun Fu
Publikováno v:
EClinicalMedicine, Vol 49, Iss , Pp 101466- (2022)
Summary: Background: Few data on paediatric hypertrophic cardiomyopathy (HCM) are available in developing countries. A multicentre, retrospective, cohort study was conducted to profile the clinical characteristics and survival of children with HCM in
Externí odkaz:
https://doaj.org/article/53ed7ee5033b478eaabb23d604e42367
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-5 (2020)
Abstract Background Mutations in CNKSR2 have been described in patients with neurodevelopmental disorders characterized by childhood epilepsy, language deficits, and attention problems. The encoded protein plays an important role in synaptic function
Externí odkaz:
https://doaj.org/article/d2b5a1f104024cc6adfe38202f775bfc
Publikováno v:
Journal of International Medical Research, Vol 50 (2022)
Variations in the POU Class 3 Homeobox 4 ( POU3F4 ) gene are associated with X-linked mixed deafness. Here, the identification of a novel variant of POU3F4 in a male paediatric patient (the proband) with incomplete partition type III (IP-III) hearing
Externí odkaz:
https://doaj.org/article/3d2f77d28c054d99b3358eca20568bdc
Autor:
Tingyu Rong, Ruen Yao, Yujiao Deng, Qingmin Lin, Guanghai Wang, Jian Wang, Fan Jiang, Yanrui Jiang
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental de
Externí odkaz:
https://doaj.org/article/3b40f2de7b5a461889f996ad84823cd3