Results 61 to 70 of about 11,932 (230)

CiliaCarta: An integrated and validated compendium of ciliary genes.

PLoS ONE, 2019
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies.
Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen   +48 more
doaj   +1 more source

Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]

, 2016
Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar, Alfinito, Avasthi, Bachmann-Gagescu, Baker, Beech, Brockerhoff, Cao, Deacon, Eblimit, Goetz, Huang, Insinna, Insinna, Insinna, Jiang, Jimeno, Jimeno, Kodani, Krock, Lopes, Louie, Makhankov, Marszalek, Marszalek, Muresan, Muresan, Nascimento, Nonaka, Pazour, Ryan, Scholey, Shu, Stearns, Sukumaran, Traverso, Trivedi, Tsujikawa, Tuma, Westerfield, Whitehead, Wolfrum, Yamazaki, Yang, Zhao   +44 more
core   +2 more sources

Liver Cirrhosis in Woman with Ciliopathy Syndrome

Acta Medica Indonesiana, 2022
Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis.
Syifa Mustika, Dian Hasanah
doaj  

Congenital hepatic fibrosis: case report and review of literature

The Pan African Medical Journal, 2021
Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease
Brahim El Hasbaoui, Zainab Rifai, Salahiddine Saghir, Anas Ayad, Najat Lamalmi, Rachid Abilkassem, Aomar Agadr   +6 more
doaj   +1 more source

The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex

Frontiers in Cell and Developmental Biology, 2021
The primary cilium, a microtubule based organelle protruding from the cell surface and acting as an antenna in multiple signaling pathways, takes center stage in the formation of the cerebral cortex, the part of the brain that performs highly complex ...
Kerstin Hasenpusch-Theil, Kerstin Hasenpusch-Theil, Thomas Theil, Thomas Theil   +3 more
doaj   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of origin recognition complex factors [PDF]

, 2019
Meier–Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism disorder. MGS is caused by genetic variants of components of the origin recognition complex (ORC) consisting of ORC1–6 and the pre-replication complex, which together ...
Casar Tena, Teresa, Donow, Cornelia, Gerhards, Julian, Jeggo, Penelope A, Maerz, Lars D, Philipp, Melanie   +5 more
core   +1 more source

Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell–cell junctions during neural tube formation

Developmental Dynamics, EarlyView.
Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas, Brittany M. Hufft‐Martinez, Zarna Lalwani, Vi Pham, Mary Elmeniawi, An J. Tran, Jianming Xu, Irfan Saadi, Walid D. Fakhouri   +8 more
wiley   +1 more source

Molecular genetics of renal ciliopathies

Biochemical Society Transactions, 2021
Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and ...
Miguel Barroso-Gil, Eric Olinger, John A. Sayer   +2 more
openaire   +3 more sources

Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival

Life Science Alliance
This study shows that the ciliopathy kinases Mak and Ick cooperatively act as ciliary tip-localized IFT regulators that are phosphorylated and activated by Ccrk in retinal photoreceptor cells.
Taro Chaya, Yamato Maeda, Ryotaro Tsutsumi, Makoto Ando, Yujie Ma, Naoko Kajimura, Teruyuki Tanaka, Takahisa Furukawa   +7 more
doaj   +1 more source