DYX1C1 is required for axonemal dynein assembly and ciliary motility

A Tarkar, NT Loges, CE Slagle, R Francis… - Nature …, 2013 - nature.com
DYX1C1 has been associated with dyslexia and neuronal migration in the developing
neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a …

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

HM Mitchison, M Schmidts, NT Loges, J Freshour… - Nature …, 2012 - nature.com
Primary ciliary dyskinesia most often arises from loss of the dynein motors that power ciliary
beating. Here we show that DNAAF3 (also known as PF22), a previously uncharacterized …

The Zebrafish Orthologue of the Dyslexia Candidate Gene DYX1C1 Is Essential for Cilia Growth and Function

G Chandrasekar, L Vesterlund, K Hultenby… - PloS one, 2013 - journals.plos.org
DYX1C1, a susceptibility gene for dyslexia, encodes a tetratricopeptide repeat domain
containing protein that has been implicated in neuronal migration in rodent models. The …

DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm complexes

GW Dougherty, NT Loges, JA Klinkenbusch… - American journal of …, 2016 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic
respiratory disorders owing to impaired mucociliary clearance. Conventional transmission …

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

C Olcese, MP Patel, A Shoemark, S Kiviluoto… - Nature …, 2017 - nature.com
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory
mucociliary clearance, laterality determination and the transport of gametes and …

Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus

MR Fassad, A Shoemark, M Legendre, RA Hirst… - The American Journal of …, 2018 - cell.com
Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial
surfaces ensures that they are kept clear and protected from inhaled pathogens and …

A liquid-like organelle at the root of motile ciliopathy

RL Huizar, C Lee, AA Boulgakov, A Horani, F Tu… - Elife, 2018 - elifesciences.org
Motile ciliopathies are characterized by specific defects in cilia beating that result in chronic
airway disease, subfertility, ectopic pregnancy, and hydrocephalus. While many patients …

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

DJ Moore, A Onoufriadis, A Shoemark… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility,
and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer …

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

NT Loges, H Olbrich, L Fenske, H Mussaffi… - The American Journal of …, 2008 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by
chronic destructive airway disease and randomization of left/right body asymmetry. Males …

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

NT Loges, D Antony, A Maver, MA Deardorff… - The American Journal of …, 2018 - cell.com
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for
determination of left-right body asymmetry, is a major cause of laterality defects. Laterality …