Zobrazeno 1 - 10
of 808
pro vyhledávání: '"MISSENSE VARIANTS"'
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 446-451 (2024)
The surge of genome sequencing data has underlined substantial genetic variants of uncertain significance (VUS). The decryption of VUS discovered by sequencing poses a major challenge in the post-sequencing era. Although experimental assays have prog
Externí odkaz:
https://doaj.org/article/ff2abe6194e1426295abe653a55d1cea
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background The PKD2, encoding polycystin-2 (PC2) protein, is second major genetic determinant of autosomal dominant polycystic kidney disease (ADPKD) after PKD1. However, the structural and functional consequences of genetic variants in PKD2
Externí odkaz:
https://doaj.org/article/03eb9df3bad04e1ea91c0c95a106b8d9
Autor:
Gabriele Mayr, Maike Bublitz, Tim A. Steiert, Britt-Sabina Löscher, Michael Wittig, Hesham ElAbd, Christoph Gassner, Andre Franke
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Kell is one of the most complex blood group systems, with a highly polymorphic genetic background. Extensive allelic variations in the KEL gene affect the encoded erythrocyte surface protein Kell. Genetic variants causing aberrant splicing, premature
Externí odkaz:
https://doaj.org/article/1b189703134846f19f74ce0e814ce49e
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract MPS III is an autosomal recessive lysosomal storage disease caused mainly by missense variants in the NAGLU, GNS, HGSNAT, and SGSH genes. The pathogenicity interpretation of missense variants is still challenging. We aimed to develop unsuper
Externí odkaz:
https://doaj.org/article/e102fd916cb0443e9dc6840e3efa0455
Autor:
Kevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, Ahmad Elbahnsi, Sandrine Maestri, Isabelle Gourlaouen, Claude Férec, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100335- (2024)
Summary: Heterozygous mutations in SLC40A1, encoding a multi-pass membrane protein of the major facilitator superfamily known as ferroportin 1 (FPN1), are responsible for two distinct hereditary iron-overload diseases: ferroportin disease, which is a
Externí odkaz:
https://doaj.org/article/628bcda8ead241819061e4af36cf09ea
Autor:
Ayesha Yousaf, Sairah Yousaf, Asra S. Shabbir, Rafia Yousaf, Saima Riazuddin, Rehan S. Shaikh, Regie Lyn P. Santos‐Cortez, Zubair M. Ahmed
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
Abstract Background Otitis media (OM) is the most frequent and complex middle ear condition with multifactorial etiology including genetic predisposition. OM depicts a variable clinical spectrum, leading to speech, developmental delay, and hearing lo
Externí odkaz:
https://doaj.org/article/1e03f75a035c448caef401d07f158078
Autor:
Ivo Fierro-Monti
Publikováno v:
Frontiers in Molecular Biosciences, Vol 11 (2024)
RNA-binding proteins (RBPs) play a key role in gene expression and post-transcriptional RNA regulation. As integral components of ribonucleoprotein complexes, RBPs are susceptible to genomic and RNA Editing derived amino acid substitutions, impacting
Externí odkaz:
https://doaj.org/article/0c94ff60417d40d08edd40a5117d0e27
Autor:
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complicated. We aimed to
Externí odkaz:
https://doaj.org/article/86acb045fc3d4749a3f4198b0d35e13c
Publikováno v:
BMC Bioinformatics, Vol 25, Iss S1, Pp 1-16 (2024)
Abstract Background In the past decade, single nucleotide variants (SNVs) have been identified as having a significant relationship with the development and treatment of diseases. Among them, prioritizing missense variants for further functional impa
Externí odkaz:
https://doaj.org/article/12baea084ff24b9d8a260140fe81e38e
Publikováno v:
Translational Oncology, Vol 45, Iss , Pp 101963- (2024)
Objective: This study presents a detailed analysis of the clinical and genetic characteristics of uterine leiomyoma associated with Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), combined with exploration of family history, pathology, and m
Externí odkaz:
https://doaj.org/article/7ba20c22347246e296ab5ffc5ec9aac4