Results 111 to 120 of about 12,076 (219)

Ciliopathy in PCS (MVA) syndrome

Oncotarget, 2015
The spindle assembly checkpoint (SAC) is a surveillance mechanism of faithful chromosome segregation during mitosis. Budding uninhibited by benzimidazole-related-1 (BubR1) plays a central role in the SAC through inhibition of anaphase promoting complex/cyclosome (APC/C) activity until all chromosomes have established proper attachment to the mitotic ...
Tatsuo, Miyamoto, Shinya, Matsuura
openaire   +2 more sources

Cystic kidney diseases: many ways to form a cyst [PDF]

, 2012
Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
core   +1 more source

A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells [PDF]

, 2018
The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here, we show that
Betleja, Ewelina, Cheng, Tao, Mahjoub, Moe R, Nanjundappa, Rashmi   +3 more
core   +2 more sources

Liver and kidney disease in ciliopathies [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2009
AbstractHepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the ...
openaire   +2 more sources

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling jeune syndrome

, 2015
Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J, Bateman, John F, Bertram, John F, Caruana, Georgina, Dobbie, Michael S, Farlie, Peter G, Freckmann, Mary-Louise, Miller, Kerry A, Pope, Kate, Savarirayan, Ravi, Tan, Tiong Y, Welfare, Megan F   +11 more
core   +1 more source

The master cell cycle regulator APC-Cdc20 regulates ciliary length and disassembly of the primary cilium [PDF]

, 2014
The primary cilium has an important role in signaling; defects in structure are associated with a variety of human diseases. Much of the most basic biology of this organelle is poorly understood, even basic mechanisms, such as control of growth and ...
Kirschner, Marc W, Wang, Weiping, Wu, Tao   +2 more
core   +1 more source

Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period. [PDF]

, 2016
Joubert syndrome is a rare disorder, usually autosomal recessive, with a prevalence of 1:80 000 to 1:100 000. This disease presents most commonly as breathing irregularities, although the two major clinical criteria are hypotonia and developmental delay,
Albuquerque, C, Dâmaso, C, Moreira, A, Salva, I   +3 more
core   +1 more source

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms [PDF]

, 2016
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases.
Apic, G, Arts, HH, Beales, PL, Betts, MJ, Beyer, T, Blacque, OE, Bolat, E, Boldt, K, Coene, KL, Davis, EE, De Vrieze, E, Dougherty, G, Franco, B, Gibson, TJ, Giles, RH, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Horn, N, Huynen, MA, Iaconis, D, Jenkins, D, Katsanis, N, Kepes, F, Klose, F, Knapp, B, Koutroumpas, K, Kremer, H, Lamers, IJ, Latour, B, Letteboer, SJ, Lu, Q, Mans, DA, Marcelis, CL, Mitic, D, Morleo, M, Nguyen, TM, Omran, H, Oud, MM, Riemersma, M, Rix, S, Roepman, R, Russell, RB, Terhal, PA, Texier, Y, Toedt, G, Ueffing, M, UK10K Rare Diseases Group, Van Beersum, SE, van Dam, TJ, Van Reeuwijk, J, Van Wijk, E, Willer, JR, Wissinger, Y, Wolfrum, U, Wu, KM   +55 more
core  

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia

Cells
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes
Patrícia Quelhas, Diogo Morgado, Jorge dos Santos   +2 more
doaj   +1 more source

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports
Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD). Although the link between trisomy 13 and PKD is recognized, the timing and progression of renal cyst development remain ...
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
doaj   +1 more source