Dynein axonemal heavy chain 5 (DNAH5) is part of a microtubule-associated protein complex found within the cilia of the lung. Mutations in the DNAH5 gene lead to impaired ciliary function and are linked to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder. We established two human induced pluripotent stem cell (hiPSC) lines generated from a patient with PCD and homozygous mutation in the corresponding DNAH5 gene. These cell lines represent an excellent tool for modeling the ciliary dysfunction in PCD.
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http://dx.doi.org/10.1016/j.scr.2020.101848 | DOI Listing |
Cells
November 2024
Department of Neurosurgery, Juntendo University Graduate School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
is associated with primary ciliary dyskinesia in humans. -knockout (-/- mice develop acute hydrocephalus shortly after birth owing to impaired ciliary motility and cerebrospinal fluid (CSF) stagnation. In contrast to chronic adult-onset hydrocephalus observed in other models, this rapid ventricular enlargement indicates additional factors beyond CSF stagnation.
View Article and Find Full Text PDFBiol Direct
November 2024
Department of Transfusion Medicine, Key Laboratory of Jiangxi Province for Transfusion Medicine, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
Background: Tumor Mutational Burden (TMB) have emerged as pivotal predictive biomarkers in determining prognosis and response to immunotherapy in colorectal cancer (CRC) patients. While Whole Exome Sequencing (WES) stands as the gold standard for TMB assessment, carry substantial costs and demand considerable time commitments. Additionally, the heterogeneity among high-TMB patients remains poorly characterized.
View Article and Find Full Text PDFClin Genet
November 2024
Center for Genomic Medicine, Riyadh, Saudi Arabia.
Heterotaxy (HTX) is a group of clinical conditions with a shared pathology of dislocation of one or more organs along the left-right axis. The etiology of HTX is tremendously heterogeneous spanning environmental factors, chromosomal aberrations, mono/oligogenic variants, and complex inheritance. However, in the vast majority of cases, the etiology of HTX remains elusive.
View Article and Find Full Text PDFPrimary cilia are sensory organelles that mediate critical cellular functions yet are difficult to visualize because of their small size and low abundance. Expansion microscopy (ExM) is an imaging method that physically expands biological specimens using a swellable hydrogel, facilitating downstream imaging of small cellular structures. In this study, we apply ExM with confocal imaging to probe axonemal dynein expression in murine and human pancreatic islets.
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