Resources & publications
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2012Journal (source)Am J Hum GenetTCTN3 mutations cause Mohr-Majewski syndrome.
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2018Journal (source)Hum Mutat
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurr...
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2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...
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2022Journal (source)Hum Mol Genet
The renal inflammatory network of nephronophthisis.
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Journal (source)Proc Natl Acad Sci U S A
Agonists of prostaglandin E2 receptors as potential first in class treatment ...
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2023Journal (source)Kidney Int
Repurposing small molecules for nephronophthisis and related renal ciliopathies.
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2023Journal (source)Sci Data
Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidne...
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2023Journal (source)Front Mol Biosci
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu...
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2023Journal (source)Kidney Int
The genetic landscape and clinical spectrum of nephronophthisis and related c...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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Journal (source)Stud Health Technol Inform
Identification of Similar Patients Through Medical Concept Embedding from Ele...
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2010Journal (source)Nat Genet
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and relat...
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2015Journal (source)J Med Genet
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy p...
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2019Journal (source)Hum. Mol. Genet.
Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2015Journal (source)J Cell Biol
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the cilia...
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
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2019Journal (source)J Biomed Inform
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
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2016Journal (source)Nat Commun
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule...
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2016Journal (source)Nat. Cell Biol.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition ...
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2016Journal (source)PLoS Genet.
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YA...
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2017Journal (source)Hum. Mutat.
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
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2018Journal (source)Nat Commun
KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone...
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2018Journal (source)Hum. Mol. Genet.
A human patient-derived cellular model of Joubert syndrome reveals ciliary de...
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2019Journal (source)Hum. Mol. Genet.
Functional characterization of tektin-1 in motile cilia and evidence for TEKT...
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Journal (source)Am. J. Physiol. Renal Physiol.
Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mec...
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2019Journal (source)EMBO J.
Cell type-specific regulation of ciliary transition zone assembly in vertebra...