Zobrazeno 1 - 10
of 15 775
pro vyhledávání: '"genotype phenotype"'
Autor:
Si-Xiu Li, Na He, Jian-Xiang Liao, Xin-Guo Lu, Wen-Guang Hu, Xiao-Rong Liu, Wei-Ping Liao, Xing-Wang Song, Bin Li
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract The LONP1 gene encodes Lon protease, which is responsible for degrading damaged or misfolded proteins and binding mitochondrial DNA. Previously, LONP1 variants have been identified in patients with cerebral, ocular, dental, auricular, and sk
Externí odkaz:
https://doaj.org/article/fdc0c5b5768348d28439a1582f30355d
Autor:
Alice Grossi, Francesca Rosamilia, Silvia Carestiato, Ettore Salsano, Isabella Ceccherini, Tiziana Bachetti
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Alexander disease (ALXDRD) is a rare neurodegenerative disorder of astrocytes resulting from pathogenic variants in the GFAP gene. The genotype-phenotype correlation remains elusive due to the variable expressivity of clinical manifestations
Externí odkaz:
https://doaj.org/article/a1c0b5bdba1c49318f81f15a964c9991
Autor:
Garrett Bullock, Jared A. Jaffey, Leah A. Cohn, Erika Sox, Eric T. Hostnik, Kyle D. Hutcheson, Erin Matero, Karen S. Hoffmann, Gary S. Johnson, Martin L. Katz
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 38, Iss 5, Pp 2431-2443 (2024)
Abstract Background Human patients with Ehlers‐Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 or COL5A2, is a very common sub
Externí odkaz:
https://doaj.org/article/e3f4160d8c9c4938a6ba6147b1ed522a
Autor:
Haifeng Feng, Shasha Huang, Ying Ma, Jinyuan Yang, Yijin Chen, Guojian Wang, Mingyu Han, Dongyang Kang, Xin Zhang, Pu Dai, Yongyi Yuan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Hearing loss (HL) is the most common sensory birth deficit worldwide, with causative variants in more than 150 genes. However, the etiological contribution and clinical manifestations of X-linked inheritance in HL remain unclear w
Externí odkaz:
https://doaj.org/article/692e7f1966154a87b7be9644b1de4a3f
Autor:
Ilaria Martinelli, Jessica Mandrioli, Andrea Ghezzi, Elisabetta Zucchi, Giulia Gianferrari, Cecilia Simonini, Francesco Cavallieri, Franco Valzania
Publikováno v:
Neural Regeneration Research, Vol 20, Iss 1, Pp 130-138 (2025)
Amyotrophic lateral sclerosis (ALS) is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex, brainstem, and spinal cord. While the typical clinical phenotype of ALS involves both upper and lower motor n
Externí odkaz:
https://doaj.org/article/0208827a07b44cb9bfdaaf5a41d406a3
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-21 (2024)
Abstract Background Decoding human genomic sequences requires comprehensive analysis of DNA sequence functionality. Through computational and experimental approaches, researchers have studied the genotype-phenotype relationship and generate important
Externí odkaz:
https://doaj.org/article/9dbae15c9c97451f9c9ac30c66879970
Autor:
Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background A comprehensive understanding of the genetic basis of rare diseases and their regulatory mechanisms is essential for human molecular genetics. However, the genetic mutant spectrum of pathogenic genes within the Chinese population
Externí odkaz:
https://doaj.org/article/e9a03254ab4e479e9ed0efd5ccfed104
Autor:
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 295-303 (2024)
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical and genetic hetero- geneity of EDS frequently leads to unde
Externí odkaz:
https://doaj.org/article/db6025bccc7742379bb0fdaab73a2b71
Autor:
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 272-279 (2024)
Abstract The neuronal ceroid lipofuscinosis type 2 (CLN2) is a heterogeneous group of neurodegenerative lysosomal storage disorders caused by autosomal recessive inheritance of two pathogenic variants in trans in the TPP1 gene. Classical late‐infan
Externí odkaz:
https://doaj.org/article/f61fe51db3314df292863543e663df7c
Autor:
Abhirami Krishnamoorthy Sundaresan, Jaya Gangwar, Aravind Murugavel, Ganesh Babu Malli Mohan, Jayapradha Ramakrishnan
Publikováno v:
AMB Express, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Urinary tract infections (UTI) by antibiotic resistant and virulent K. pneumoniae are a growing concern. Understanding the genome and validating the genomic profile along with pangenome analysis will facilitate surveillance of high-risk clon
Externí odkaz:
https://doaj.org/article/8bd83adfcd8a459683a11751b538bfb3