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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Reduced generation of multiple motile cilia (RGMC) is a rare mucociliary clearance disorder, characterized by chronic airway disease. Here, the authors identify mutations in the Multicilin gene, MCIDAS, and suggest that these mutations cause RGMC through disruption of multiciliated cell differentiation.

Mieke Boon
Julia Wallmeier
Heymut Omran
Research22 Jul 2014
Nature Communications

Volume: 5, P: 1-8
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

The mechanism by which adenosine monophosphate modulates dynein ATPase-mediated ciliary and flagellar beating remains obscure. Here the authors identify an axonemal module including cilia and flagella associated protein 45 that supports adenine nucleotide homeostasis and underlies a human ciliopathy

Gerard W. Dougherty
Katsutoshi Mizuno
Heymut Omran
ResearchOpen Access02 Nov 2020
Nature Communications

Volume: 11, P: 1-20
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

Heymut Omran, Mary Porter and colleagues identify the nexin link–dynein regulatory complex subunit DRC1 from Chlamydomonas and show that mutations in the human DRC1 homolog CCDC164 cause primary ciliary dyskinesia. Their analyses show that loss of DRC1 results in distinct axonemal defects and altered ciliary beat patterns.

Maureen Wirschell
Heike Olbrich
Heymut Omran
Research27 Jan 2013
Nature Genetics

Volume: 45, P: 262-268
DYX1C1 is required for axonemal dynein assembly and ciliary motility

Heymut Omran, Joseph LoTurco and colleagues show that mutations in the dyslexia susceptibility candidate gene DYX1C1 cause primary ciliary dyskinesia. Their functional studies suggest that DYX1C1 is required for the cytoplasmic preassembly of axonemal dynein complexes.

Aarti Tarkar
Niki T Loges
Heymut Omran
Research21 Jul 2013
Nature Genetics

Volume: 45, P: 995-1003
Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia

Joerg Grosse-Onnebrink
Claudius Werner
Heymut Omran
Research13 Jan 2016
Pediatric Research

Volume: 79, P: 731-735
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Iain Drummond, Heymut Omran, Stephen King and colleagues show that CCDC103 mutations cause primary ciliary dyskinesia. Their studies suggest that CCDC103 is a core axonemal factor that helps anchor dynein motor complexes to ciliary microtubules.

Jennifer R Panizzi
Anita Becker-Heck
Iain A Drummond
Research13 May 2012
Nature Genetics

Volume: 44, P: 714-719
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Heymut Omran and colleagues show that biallelic mutations in CCNO cause a chronic destructive lung disease resulting from loss of multiple motile cilia from the surface of respiratory epithelial cells. Subcellular analyses suggest that CCNO deficiency leads to defective centriole amplification and migration, leading to reduced ciliogenesis.

Julia Wallmeier
Dalal A Al-Mutairi
Heymut Omran
Research20 Apr 2014
Nature Genetics

Volume: 46, P: 646-651
A reduced concentration of brain interstitial amino acids is associated with depression in subarachnoid hemorrhage patients

Mario Kofler
Alois Josef Schiefecker
Raimund Helbok
ResearchOpen Access26 Feb 2019
Scientific Reports

Volume: 9, P: 1-10
Surgical necrotizing enterocolitis but not spontaneous intestinal perforation is associated with adverse neurological outcome at school age

Alexander Humberg
Juliane Spiegler
Kristin Dawczynski
ResearchOpen Access11 Feb 2020
Scientific Reports

Volume: 10, P: 1-9

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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

A reduced concentration of brain interstitial amino acids is associated with depression in subarachnoid hemorrhage patients

Surgical necrotizing enterocolitis but not spontaneous intestinal perforation is associated with adverse neurological outcome at school age

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