Results 21 to 30 of about 9,301 (255)

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies. [PDF]

J Cell Commun Signal
Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Yin J, Bai J, He X, He W, Miao H, Zhang M, Yu Z, Ni B.   +7 more
europepmc   +2 more sources

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Human Mutation, Volume 43, Issue 12, Page 2130-2140, December 2022., 2022
Abstract Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA‐seq) on RNA
Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham   +24 more
wiley   +1 more source

The nonmotile ciliopathies [PDF]

Genetics in Medicine, 2009
Over the last 5 years, disorders of nonmotile cilia have come of age and their study has contributed immeasurably to our understanding of cell biology and human genetics. This review summarizes the main features of the ciliopathies, their underlying genetics, and the functions of the proteins involved. We describe some of the key findings in the field,
Jonathan L. Tobin, Philip L. Beales
openaire   +3 more sources

Golgi Dysfunctions in Ciliopathies

Cells, 2022
The Golgi apparatus (GA) is essential for intracellular sorting, trafficking and the targeting of proteins to specific cellular compartments. Anatomically, the GA spreads all over the cell but is also particularly enriched close to the base of the primary cilium.
Masson, Justine, El Ghouzzi, Vincent
openaire   +4 more sources

CiliOPD: a ciliopathy-associated COPD endotype

Respiratory Research, 2021
The pathophysiology of chronic obstructive pulmonary disease (COPD) relies on airway remodelling and inflammation. Alterations of mucociliary clearance are a major hallmark of COPD caused by structural and functional cilia abnormalities.
Jeanne-Marie Perotin, Myriam Polette, Gaëtan Deslée, Valérian Dormoy   +3 more
doaj   +1 more source

Structures and functions of cilia during vertebrate embryo development

Molecular Reproduction and Development, Volume 89, Issue 12, Page 579-596, December 2022., 2022
Abstract Cilia are hair‐like structures that project from the surface of cells. In vertebrates, most cells have an immotile primary cilium that mediates cell signaling, and some specialized cells assemble one or multiple cilia that are motile and beat synchronously to move fluids in one direction.
Jeffrey D. Amack
wiley   +1 more source

Fetal cerebral ventriculomegaly: What do we tell the prospective parents?

Prenatal Diagnosis, Volume 42, Issue 13, Page 1674-1681, December 2022., 2022
Abstract Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central
Veronica Giorgione, Karina Krajden Haratz, Shlomi Constantini, Roee Birnbaum, Gustavo Malinger   +4 more
wiley   +1 more source

Ciliopathies in pediatric endocrinology

Annals of Pediatric Endocrinology & Metabolism, 2023
Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy.
Ilenia Cicolini, Annalisa Blasetti, Francesco Chiarelli   +2 more
openaire   +3 more sources

PIH1D3-knockout rats exhibit full ciliopathy features and dysfunctional pre-assembly and loading of dynein arms in motile cilia

Frontiers in Cell and Developmental Biology, 2023
Background: Recessive mutation of the X-linked gene, PIH1 domain-containing protein 3 (PIH1D3), causes familial ciliopathy. PIH1D3 deficiency is associated with the defects of dynein arms in cilia, but how PIH1D3 specifically affects the structure and ...
Tingting Zhang, Tingting Zhang, Shiquan Cui, Shiquan Cui, Xinrui Xiong, Xinrui Xiong, Ying Liu, Ying Liu, Qilin Cao, Qilin Cao, Xu-Gang Xia, Xu-Gang Xia, Hongxia Zhou, Hongxia Zhou   +13 more
doaj   +1 more source

The distal central pair segment is structurally specialised and contributes to IFT turnaround and assembly of the tip capping structures in Chlamydomonas flagella

Biology of the Cell, Volume 114, Issue 12, Page 349-364, December 2022., 2022
Tip structures of Chlamydomonas flagella are structurally and functionally related to IFT turnaround. During this process, the IFT‐172 subunit dissociates and specifically anchors to the LLS, a specialised component that is spatially restricted to the distal segment of the central pair complex.
Ambra Pratelli, Dalia Corbo, Pietro Lupetti, Caterina Mencarelli   +3 more
wiley   +1 more source