Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies [PDF]
, 2012 Katarzyna Szymańska +12 more
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MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity [PDF]
, 2019 Tana S. Pottorf +5 more
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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia [PDF]
, 2020 Madeline Louise Reilly +17 more
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Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290 [PDF]
, 2021 Valencia L. Potter +3 more
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Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor [PDF]
, 2021 Eleni Leventea +7 more
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Senior- Loken Syndrome – A Ciliopathy
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2014 Senior - Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto - retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis.
openaire +3 more sources
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies [PDF]
, 2019 I-Chun Tsai +5 more
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Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]
, 2018 We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique +10 more
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FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]
, 2017 Retinitis pigmentosa (RP) is a retinal degenerative disease characterized by the progressive loss of photoreceptors. We have previously demonstrated that RP can be caused by recessive mutations in the human FAM161A gene, encoding a protein with unknown ...
Arsenijevic, Yvan +8 more
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