Primary Ciliary Dyskinesia: A Clinical Review
KA Despotes, MA Zariwala, SD Davis, TW Ferkol - Cells, 2024 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, motile ciliopathy,
characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract …
characterized by neonatal respiratory distress, recurrent upper and lower respiratory tract …
Not all are the same: the power of registries in defining genotype–phenotype relationships in primary ciliary dyskinesia
Extract Steve Jobs once said “You can't connect the dots looking forward; you can only
connect them looking backwards. So you have to trust that the dots will somehow connect in …
connect them looking backwards. So you have to trust that the dots will somehow connect in …
TUBB4B is essential for the cytoskeletal architecture of cochlear supporting cells and motile cilia development
U Sanzhaeva, H Boyd-Pratt, PTR Bender… - Communications …, 2024 - nature.com
Microtubules are essential for various cellular processes. The functional diversity of
microtubules is attributed to the incorporation of various α-and β-tubulin isotypes encoded …
microtubules is attributed to the incorporation of various α-and β-tubulin isotypes encoded …
AlphaFold2-guided engineering of split-GFP technology enables labeling of endogenous tubulins across species while preserving function
K Xu, Z Li, L Mao, Z Guo, Z Chen, Y Chai, C Xie… - Plos …, 2024 - journals.plos.org
Dynamic properties are essential for microtubule (MT) physiology. Current techniques for in
vivo imaging of MTs present intrinsic limitations in elucidating the isotype-specific nuances …
vivo imaging of MTs present intrinsic limitations in elucidating the isotype-specific nuances …
TUBB4B is essential for the expansion of differentiating spermatogonia
U Sanzhaeva, NR Wonsettler, SB Rhodes… - Scientific Reports, 2024 - nature.com
Microtubules, polymers of αβ-tubulin heterodimers, are essential for various cellular
processes. The incorporation of different tubulin isotypes, each encoded by distinct genes, is …
processes. The incorporation of different tubulin isotypes, each encoded by distinct genes, is …
Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest
H Hu, X Wan, H Zhang, J Sun, F Meng… - Journal of Medical …, 2024 - jmg.bmj.com
Background Recurrent preimplantation embryo developmental arrest (RPEA) is the most
common phenotype in assisted reproductive technology treatment failure associated with …
common phenotype in assisted reproductive technology treatment failure associated with …
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
J Santoyo-Lopez, JE Murray, K Macleod… - Pediatric …, 2024 - research.ed.ac.uk
Background: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia.
Most cases are inherited recessively, due to variants in> 50 genes that result in abnormal or …
Most cases are inherited recessively, due to variants in> 50 genes that result in abnormal or …
R391 human dominant mutation does not affect TubB4b localization and sensory hair cells structure in zebrafish inner ear and lateral line.
W Smaili, C Pezet, S Marlin, S Ernest - Developmental Biology, 2024 - Elsevier
ABSTRACT Heterozygous R391 TUBB4B pathogenic variations are responsible for an
association of hearing loss and retinal dystrophy in human. With the goal of understanding …
association of hearing loss and retinal dystrophy in human. With the goal of understanding …
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
Background Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most
cases are inherited recessively, due to variants in> 50 genes that result in abnormal or …
cases are inherited recessively, due to variants in> 50 genes that result in abnormal or …
[PDF][PDF] Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
SM de Proce PhD - 2024 - pure.ed.ac.uk
Background: Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia.
Most cases are inherited recessively, due to variants in> 50 genes that result in abnormal or …
Most cases are inherited recessively, due to variants in> 50 genes that result in abnormal or …