Results 251 to 260 of about 12,422 (262)
Some of the next articles are maybe not open access.

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Nature Communications, 2016
Séverine Bär   +2 more
exaly  

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

American Journal of Human Genetics, 2015
Daniela Anne Braun   +2 more
exaly  

The Classic Ciliopathies

RadioGraphics, 2014
openaire   +2 more sources

Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Nature Medicine, 2009
Madeline A Lancaster, Sanjay K Nigam
exaly  

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

American Journal of Human Genetics, 2017
Julie C Van De Weghe   +2 more
exaly  

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

Nature Medicine, 2012
Calvin S Carter   +2 more
exaly  

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Journal of Medical Genetics, 2012
Jan Halbritter   +2 more
exaly  

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Nature Genetics, 2011
Erica E Davis   +2 more
exaly  

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Human Molecular Genetics, 2011
Artur V Cideciyan   +2 more
exaly  

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

Nature Medicine, 2012
Jeremy C Mcintyre   +2 more
exaly  
biology
gene
phenotype
genetics
ciliopathies
cilium
cell biology
medicine
joubert syndrome
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