Results 131 to 140 of about 7,870 (178)
Joubert syndrome gene <i>fam149b1</i> homolog, <i>xbx-4</i> , is required for multiple sensory behaviors. [PDF]
MicroPubl BiolChing K, Sternberg PW, Barr MM.
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Retinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort. [PDF]
CureusVázquez-Folch SJ +3 more
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Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family. [PDF]
Mol Genet Genomic MedAljeaid D +4 more
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Cilium-by-cilium: unveiling hidden proteomic diversity and the molecular basis of ciliopathies. [PDF]
Signal Transduct Target TherChiong M, Li H, Lavandero S.
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Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity. [PDF]
NPJ Genom MedSangermano R +14 more
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A functional and therapeutic investigation of ciliopathy proteins and ciliopathies
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Nature Reviews Disease Primers, 2020
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia +6 more
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Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of
Wallmeier, Julia +6 more
openaire +8 more sources
Ophthalmic Genetics, 2007
While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.
N A, Adams +2 more
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While the functions of many of the proteins located in or associated with the photoreceptor cilia are poorly understood, disruption of the function of these proteins may result in a wide variety of phenotypes ranging from isolated retinal degeneration to more pleiotropic phenotypes.
N A, Adams +2 more
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Current Opinion in Genetics & Development, 2019
Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes.
Laura A, Devlin, John A, Sayer
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Renal ciliopathies are a group of disorders characterised by nephronophthisis, cystic kidneys or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes.
Laura A, Devlin, John A, Sayer
openaire +2 more sources