Motile ciliopathies

J Wallmeier, KG Nielsen, CE Kuehni… - Nature reviews Disease …, 2020 - nature.com
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of
various organ systems. Genetic mutations (usually with autosomal recessive inheritance) …

Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …

Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq

A Zeisel, AB Muñoz-Manchado, S Codeluppi… - Science, 2015 - science.org
The mammalian cerebral cortex supports cognitive functions such as sensorimotor
integration, memory, and social behaviors. Normal brain function relies on a diverse set of …

Primary ciliary dyskinesia in the genomics age

JS Lucas, SD Davis, H Omran… - The Lancet Respiratory …, 2020 - thelancet.com
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired
function of motile cilia causes failure of mucociliary clearance. Patients typically present with …

Motile cilia and airway disease

M Legendre, LE Zaragosi, HM Mitchison - Seminars in cell & …, 2021 - Elsevier
A finely regulated system of airway epithelial development governs the differentiation of
motile ciliated cells of the human respiratory tract, conferring the body's mucociliary …

Teratozoospermia: spotlight on the main genetic actors in the human

C Coutton, J Escoffier, G Martinez… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND Male infertility affects> 20 million men worldwide and represents a major
health concern. Although multifactorial, male infertility has a strong genetic basis which has …

Genetics of male infertility

C Krausz, V Rosta, RS Swerdloff, C Wang - Emery and rimoin's principles …, 2022 - Elsevier
Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Experimental nutrient additions accelerate terrestrial carbon loss from stream ecosystems

AD Rosemond, JP Benstead, PM Bumpers, V Gulis… - Science, 2015 - science.org
Nutrient pollution of freshwater ecosystems results in predictable increases in carbon (C)
sequestration by algae. Tests of nutrient enrichment on the fates of terrestrial organic C …

Genetics and biology of primary ciliary dyskinesia

A Horani, TW Ferkol, SK Dutcher, SL Brody - Paediatric respiratory reviews, 2016 - Elsevier
Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure
and function. Our understanding of the complex genetic and functional phenotypes of these …