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Ciliopathies in pediatric endocrinology [PDF]

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.
Ilenia Cicolini, Annalisa Blasetti, Francesco Chiarelli   +2 more
doaj   +1 more source

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 ...
Justine Masson, Vincent El Ghouzzi
doaj   +1 more source

The importance of genomic profiling for differential diagnosis of pediatric lung disease patients with suspected ciliopathies [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2019
Introduction/Objective. Dysfunction of the axonemal structure leads to ciliopathies. Sensory and motile ciliopathies have been associated with numerous pediatric diseases, including respiratory diseases.
Anđelković Marina, Spasovski Vesna, Vreća Miša, Sovtić Aleksandar, Rodić Milan, Komazec Jovana, Pavlović Sonja, Minić Predrag   +7 more
doaj   +1 more source

CPLANE Complex and Ciliopathies

Biomolecules, 2022
Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP)
Jesús Eduardo Martín-Salazar, Diana Valverde   +1 more
doaj   +1 more source

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

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

Primary cilia-associated protein IFT172 in ciliopathies

Frontiers in Cell and Developmental Biology, 2023
Cilium is a highly conserved antenna-like structure protruding from the surface of the cell membrane, which is widely distributed on most mammalian cells. Two types of cilia have been described so far which include motile cilia and immotile cilia and the
Nan-Xi Zheng, Ya-Ting Miao, Xi Zhang, Mu-Zhi Huang, Muhammad Jahangir, Shilin Luo, Shilin Luo, Bing Lang   +7 more
doaj   +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

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

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, Francesca Dassie, Gianluca Bertschy, Emilie M. Canuto, Gabriella Milan, Stefano Cosma, Pietro Maffei, Chiara Benedetto   +7 more
doaj   +1 more source