Zobrazeno 1 - 10
of 795
pro vyhledávání: '"splicing mutation"'
Autor:
Xiu-juan Yao, Qian Chen, Hong-ping Yu, Dan-dan Ruan, Shi-jie Li, Min Wu, Li-sheng Liao, Xin-fu Lin, Zhu-ting Fang, Jie-wei Luo, Bao-song Xie
Publikováno v:
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Primary ciliary dyskinesia (PCD) is an autosomal recessive hereditary disease characterized by recurrent respiratory infections. In clinical manifestations, DNAH5 (NM_001361.3) is one of the recessive pathogenic genes. Primary fam
Externí odkaz:
https://doaj.org/article/15b90ce4c538442da7531ae5b746bca1
Publikováno v:
International Journal of Ophthalmology, Vol 16, Iss 10, Pp 1595-1600 (2023)
AIM: To report a novel splicing mutation in the RPGR gene (encoding retinitis pigmentosa GTPase regulator) in a three-generation Chinese family with X-linked retinitis pigmentosa (XLRP). METHODS: Comprehensive ophthalmic examinations including best c
Externí odkaz:
https://doaj.org/article/fda00ba7f8c640b4bcdb5e6e1134388f
Publikováno v:
ESC Heart Failure, Vol 10, Iss 4, Pp 2479-2486 (2023)
Abstract Aims This study aimed to identify a novel splicing‐altering LAMP2 variant associated with Danon disease. Methods and results To identify the potential genetic mutation in a Chinese pedigree, whole‐exome sequencing was conducted in the pr
Externí odkaz:
https://doaj.org/article/607fff5fdbb348af84e9d99065cb341b
Publikováno v:
口腔疾病防治, Vol 31, Iss 8, Pp 552-558 (2023)
Objective This article explores the relationship between congenital tooth agenesis and related gene mutations, providing a reference for early diagnosis of the disease. Methods Clinical and radiographic examinations of a rare case of congenital tooth
Externí odkaz:
https://doaj.org/article/82c621b729dc47f1915f1e6fb8d3c0bb
Autor:
Yang Wang, Tao Liu, Jiaqi Liu, Yan Xiang, Lan Huang, Jiacheng Li, Xizhou An, Shengyan Cui, Zishuai Feng, Jie Yu
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Abstract Background and Aims: Glucose phosphate isomerase (GPI) deficiency is an extremely rare autosomal recessive disorder caused by mutations in the GPI gene. In this research, the proband displaying typical manifestations of haemolytic anaemia an
Externí odkaz:
https://doaj.org/article/b54b4b5c35c14e958b5863628a1661a4
Publikováno v:
罕见病研究, Vol 2, Iss 2, Pp 178-185 (2023)
Objective To summarize the clinical features of a family with Basan syndrome and to analyze mutation of the SMARCAD1 gene. Methods The Basan family was diagnosed at Dermatology Hospital, Southern Medical University in 2022. Backgroud data was collect
Externí odkaz:
https://doaj.org/article/eb1fed77501a444b934d90bddf7c9c06
Publikováno v:
Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background Kallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including ANOS1 and FGFR1 have been identified in different genetic models of KS without affirmatory genotype–pheno
Externí odkaz:
https://doaj.org/article/05ebd8f62d2f462b8aead95ce192f341
Autor:
Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation. According to the Human Gene
Externí odkaz:
https://doaj.org/article/1136e6121fbc41f59d599f06d38c7438
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy.Case
Externí odkaz:
https://doaj.org/article/7fdcef1ad38442f0aee6e3c7c70bc659
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
SCPx deficiency is a rare disorder of peroxisomal beta-oxidation dysfunction, and it has only been documented in two patients thus far. In the previously reported patients, both patients were primarily presented with slowly progressive dystonia or at
Externí odkaz:
https://doaj.org/article/09077b1ccc404605ad113eee3c931fe2