Zobrazeno 1 - 10
of 83 767
pro vyhledávání: '"' exon"'
Publikováno v:
Clinical, Cosmetic and Investigational Dermatology, Vol Volume 17, Pp 2773-2776 (2024)
Shuqi Huang,* Moath abbas abdalla alhadidi,* Nanfei Feng, Chuan Wan Department of Dermatology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People’s Republic of China*These authors contributed e
Externí odkaz:
https://doaj.org/article/84634b271c68480cb9b576daa0da07a3
Autor:
Dongyang Li, Karina Al-Dahleh, Daniel A Murphy, Sonya Georgieva, Nik Matthews, Claire L Shovlin
Publikováno v:
Cell Stress, Vol 11, Pp 112-124 (2024)
Human peripheral blood mononuclear cells (PBMCs) are used to examine biological processes and disease, when basal variability in cellular activation and splicing is described and unexplained. Using isolation systems that maintained buffy coat cells (
Externí odkaz:
https://doaj.org/article/673ed9bec2f04663ad507a7927105b26
Autor:
Cătălin Vasile Munteanu, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa
Publikováno v:
BMC Genomic Data, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impa
Externí odkaz:
https://doaj.org/article/a6119d78d567491e88e8c7def5420876
Autor:
Yuka Koike
Publikováno v:
Neuroscience Research, Vol 208, Iss , Pp 1-7 (2024)
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by nuclear depletion and cytoplasmic aggregation of TAR DNA-binding protein-43 (TDP-43). TDP-43 plays a key role in regulating the splicing of numerous genes, inc
Externí odkaz:
https://doaj.org/article/b7cdb22ca57f4fe5876cca077e0710f7
Autor:
Rongzhen Li, Xiaoyan Liu, Yan Xu, Jing Zhao, Wei Zhong, Xiaoxing Gao, Minjiang Chen, Mengzhao Wang
Publikováno v:
Thoracic Cancer, Vol 15, Iss 32, Pp 2339-2343 (2024)
Abstract Mesenchymal–epithelial transition (MET) exon 14 (METex14) skipping mutation is a rare (3%–4%) driver mutation in non‐small cell lung cancer (NSCLC). Tepotinib, a selective MET inhibitor, has shown promise in treating METex14 skipping
Externí odkaz:
https://doaj.org/article/99ed271fb2f4452da56c2df66dccf708
Publikováno v:
FEBS Open Bio, Vol 14, Iss 10, Pp 1682-1690 (2024)
The search for genetic variants that act as causative factors in human diseases by disrupting the normal splicing process has primarily focused on single nucleotide variants (SNVs). It is worth noting that insertions or deletions (indels) have also b
Externí odkaz:
https://doaj.org/article/2009ab69933e433792fc41ce4e4217df
Publikováno v:
BMC Cancer, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Purpose Extracellular heat shock protein 90 AA1(eHSP90α) is intricately linked to tumor progression and prognosis. This study aimed to investigate the difference in the value of eHSP90α in post-treatment response assessment and prognosis p
Externí odkaz:
https://doaj.org/article/dee9d7a29eb4463e965a0cdfde0ad8f1
Publikováno v:
Clinical and Translational Discovery, Vol 4, Iss 5, Pp n/a-n/a (2024)
Abstract Most eukaryotic genes generate multiple messenger RNA (mRNA) transcript variants by alternative splicing. The incomplete annotation of gene transcripts in genomic databases can result in improper primer design, adversely affecting the reliab
Externí odkaz:
https://doaj.org/article/22d6195a50f24874af3d213a5063bfd3
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 3, Pp 12-23 (2024)
Background. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, that occurs between one and three years of age. DMD is caused by pathogenic and likely pathogenic variants in the DMD gene, which lead to a defic
Externí odkaz:
https://doaj.org/article/2ae0308147c14e91b799735f4891b7f3