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 …

Architecture of the human interactome defines protein communities and disease networks

EL Huttlin, RJ Bruckner, JA Paulo, JR Cannon, L Ting… - Nature, 2017 - nature.com
The physiology of a cell can be viewed as the product of thousands of proteins acting in
concert to shape the cellular response. Coordination is achieved in part through networks of …

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice

SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline

AJ Shapiro, SD Davis, D Polineni… - American journal of …, 2018 - atsjournals.org
Background: This document presents the American Thoracic Society clinical practice
guidelines for the diagnosis of primary ciliary dyskinesia (PCD). Target Audience: Clinicians …

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 …

Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry

L Djenoune, M Mahamdeh, TV Truong, CT Nguyen… - Science, 2023 - science.org
The breaking of bilateral symmetry in most vertebrates is critically dependent upon the
motile cilia of the embryonic left-right organizer (LRO), which generate a directional fluid …

De novo identification of mammalian ciliary motility proteins using cryo-EM

M Gui, H Farley, P Anujan, JR Anderson, DW Maxwell… - Cell, 2021 - cell.com
Dynein-decorated doublet microtubules (DMTs) are critical components of the oscillatory
molecular machine of cilia, the axoneme, and have luminal surfaces patterned periodically …

Little fish, big data: zebrafish as a model for cardiovascular and metabolic disease

P Gut, S Reischauer, DYR Stainier… - Physiological …, 2017 - journals.physiology.org
The burden of cardiovascular and metabolic diseases worldwide is staggering. The
emergence of systems approaches in biology promises new therapies, faster and cheaper …

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 …