Results 61 to 70 of about 11,057 (243)
Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child
Indian Journal of Paediatric Dermatology, 2021 Introduction: Oral-facial-digital syndrome (OFDS) is a rare type of ectodermal dysplasias characterized by malformations of the face, oral cavity, and digits. The OFDS type 1 is most common and has an X-linked dominant inheritance. Case report: We report
Sameeksha Chand
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Ciliary Dyneins and Dynein Related Ciliopathies
Cells, 2021 Although ubiquitously present, the relevance of cilia for vertebrate development and health has long been underrated. However, the aberration or dysfunction of ciliary structures or components results in a large heterogeneous group of disorders in ...
D. Antony, H. Brunner, M. Schmidts
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Zebrafish Assays of Ciliopathies [PDF]
, 2011 In light of the growing list of human disorders associated with their dysfunction, primary cilia have recently come to attention as being important regulators of developmental signaling pathways and downstream processes. These organelles, present on nearly every vertebrate cell type, are highly conserved structures allowing for study across a range of ...
Norann A. Zaghloul, Nicholas Katsanis
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Frontiers in Pediatrics, 2023 IntroductionBardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia.
Ana Simičić Majce +11 more
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Centriolar Protein C2cd3 Is Required for Craniofacial Development
Frontiers in Cell and Developmental Biology, 2021 The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders termed ciliopathies. C2 domain containing 3 centriole elongation regulator (C2cd3), encodes a centriolar protein essential
Ching-Fang Chang +9 more
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Journal of Medical Genetics, 2021 Background Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the ‘cell’s antenna’. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service (NHS ...
Sunayna Best +14 more
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eLife, 2022 Primary ciliary defects cause a group of developmental conditions known as ciliopathies. Here, we provide mechanistic insight into ciliary ubiquitin processing in cells and for mouse model lacking the ciliary protein Mks1. In vivo loss of Mks1 sensitises
Katarzyna Szymanska +8 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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Ciliopathies A reference for clinicians [PDF]
Clinical Kidney Journal, 2014 This is a multi-author book encompassing 14 chapters on diseases associated with defects in proteins expressed in the primary cilia, a structure long regarded as a useless vestigial organelle. The first chapter covers our current knowledge of the structure and biology of the motile and non-motile (primary) cilia and proposes a clinical diagnosis ...
Patrick Niaudet, Laurence Heidet
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Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
Frontiers in Genetics, 2022 Background: Alström syndrome (AS) is an ultrarare multisystemic progressive disease caused by autosomal recessive variations of the ALMS1 gene (2p13). AS is characterized by double sensory impairment, cardiomyopathy, childhood obesity, extreme insulin ...
Luca Marozio +7 more
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