Zobrazeno 1 - 10
of 366
pro vyhledávání: '"intronic variant"'
Autor:
Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze int
Externí odkaz:
https://doaj.org/article/d4c46e355609496a986f5d68753b59b9
Autor:
Rong-Yue Sun, Yue Xu, Qing-Qing Huang, Si-Si Hu, Hua-Zhi Xu, Yan-Zhao Luo, Ting Zhu, Jun-Hui Sun, Yu-Jing Gong, Mian-Mian Zhu, Hong-Wei Wang, Jing-Ye Pan, Chao-Sheng Lu, Dan Wang
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)
Abstract Background Genetic variants in COL4A2 are less common than those of COL4A1 and their fetal clinical phenotype has not been well described to date. We present a fetus from China with an intronic variant in COL4A2 associated with a prenatal di
Externí odkaz:
https://doaj.org/article/c4abd43693c04e8c93bdd88b4df5e015
Autor:
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103562- (2024)
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE
Externí odkaz:
https://doaj.org/article/72e21426c0fa43a5aca7565c4cfc1090
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)
Abstract Background Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are l
Externí odkaz:
https://doaj.org/article/bd60326e9d8749539029967305d4f013
Autor:
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno
Publikováno v:
Cells, Vol 13, Iss 15, p 1261 (2024)
Biallelic variants in USH2A are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of next-generation sequencing into clinica
Externí odkaz:
https://doaj.org/article/9f8300908b4346948f247decb549375c
Autor:
Chang Liu, Yanyu Lu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Xinchao Cheng, Fangfang Niu, Yawen Zhao, Jianwen Deng, Lingchao Meng, Zhaoxia Wang, Yun Yuan, Zhiying Xie
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e28020- (2024)
Most pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, mo
Externí odkaz:
https://doaj.org/article/30c3de73fd56453ba19bca83f52730ad
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Autor:
Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu Ma
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Phenylketonuria (PKU) is an autosomal recessive congenital metabolic disorder caused by PAH variants. Previously, approximately 5% of PKU patients remained undiagnosed after Sanger sequencing and multiplex ligation-dependent probe
Externí odkaz:
https://doaj.org/article/3dba0980b90543168c5f0a05674ca0ce
Autor:
Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)
Abstract Predicting the impact of coding and noncoding variants on splicing is challenging, particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing splice prediction tools are complementary but knowing which to u
Externí odkaz:
https://doaj.org/article/a68b29b28f7044f1a5d703764aca0078
Autor:
Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä, Hermine A. van Duyvenvoorde, Cindy Richel-van Assenbergh, Heleen M. van der Klift, Olivera Casar-Borota, Carina Frykholm, Anne-Marie Landtblom
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diag
Externí odkaz:
https://doaj.org/article/6fcf8f8bf0e6479fb4c92c4215f6da52
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Abstract Background Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. Usher syndrome type 1F is caused by biallelic loss‐of‐function variants in Protocadherin 15 (PCDH15), which e
Externí odkaz:
https://doaj.org/article/e0eee93ec9704402bbb8282c9b9c0c99