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Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
Neurobiology of Disease, 2021 Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline ...
Abraham Andreu-Cervera +2 more
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Review on Genes related to Postaxial Polydactyly
Frontiers in Pediatrics, 2015 Background: Postaxial polydactyly (PAP) is one of the commonest congenital malformations and usually is associated to several syndromes . There is no primary investigational strategy for PAP cases with single gene disorder in literature.
Ashraf AbdulRahman El-Harouni +1 more
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Editorial: Advances in cilia and flagella research [PDF]
Frontiers in Cell and Developmental BiologyMaureen Wirschell, Lance Lee, Aimin Liu
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Disease Models & Mechanisms, 2022 Ciliopathies represent a disease class characterized by a broad range of phenotypes including polycystic kidneys and skeletal anomalies. Ciliopathic skeletal phenotypes are among the most common and most difficult to treat due to a poor understanding of ...
Christian Louis Bonatto Paese +3 more
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eLifeDysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathies, which ...
Maiko Kawasaki +24 more
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Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies
DiagnosticsCiliopathies are rare congenital disorders caused by defects in the structure or function of cilia, which can lead to a wide range of clinical manifestations. Among them, a subset known as skeletal ciliopathies exhibits significant phenotypic overlap and
Katia Margiotti +10 more
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Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in Drosophila
eLife, 2019 Cilia and flagella are conserved eukaryotic organelles essential for cellular signaling and motility. Cilia dysfunctions cause life-threatening ciliopathies, many of which are due to defects in the transition zone (TZ), a complex structure of the ciliary
Jean-André Lapart +10 more
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Hedgehog Signal and Genetic Disorders
Frontiers in Genetics, 2019 The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide spectrum of biological events including cell differentiation, proliferation, and ...
Noriaki Sasai +3 more
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Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
Frontiers in Genetics, 2022 Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz +5 more
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A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]
Journal of Clinical and Diagnostic Research, 2013 The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M. +4 more
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