Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe, +33

Nature Genetics

Mitochondrial MyopathyMitochondrial CalciumMuscle DisorderMolecular NeuroscienceMolecular Physiology +9

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, +72

Nature Cell Biology

Ciliopathy GenesFunctional GenomicsGliomaGeneticsGene Regulation +8

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Adriana Buskin, Lili Zhu, Valeria Chichagova, +39

Nature Communications

A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

Cornelia Blume, Claire Jackson, C. Mirella Spalluto, +24

Nature Genetics

AsthmaNovel Ace2 IsoformImmunologyRespiratory InfectionInfectious Respiratory Disease +4

CiliaCarta: An integrated and validated compendium of ciliary genes

Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, +45

PLoS ONE

GeneticsGene CharacterizationMolecular GeneticsDisease Gene IdentificationGenomics +17

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

Helen R. Dawe, Matthew Adams, Gabrielle Wheway, +5

Journal of Cell Science

Cell PhysiologyDevelopmental BiologySignal TransductionNesprin-2 InteractsActin Cytoskeleton +13

A meckelin–filamin A interaction mediates ciliogenesis

Matthew Adams, Roslyn Simms, Zakia Abdelhamed, +11

Human Molecular Genetics

Developmental BiologyMendelian DisorderGenetic DisorderDevelopmental GeneticsCell Interaction +10

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, +4

Human Molecular Genetics

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

Amelia Shoemark, Helen Griffin, Gabrielle Wheway, +66

European Respiratory Journal

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway

Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, +4

Disease Models & Mechanisms