Results 21 to 30 of about 18,948 (224)

Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]

, 2013
Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga, Carpenter, Gillian, Colnaghi, Rita, Kerzendorfer, Claudia, O'Driscoll, Mark   +4 more
core   +1 more source

Promotion and Suppression of Centriole Duplication Are Catalytically Coupled through PLK4 to Ensure Centriole Homeostasis

Cell Reports, 2016
PLK4 is the major kinase driving centriole duplication. Duplication occurs only once per cell cycle, forming one new (or daughter) centriole that is tightly engaged to the preexisting (or mother) centriole.
Minhee Kim, Brian P. O’Rourke, Rajesh Kumar Soni, Prasad V. Jallepalli, Ronald C. Hendrickson, Meng-Fu Bryan Tsou   +5 more
doaj   +1 more source

Atypical centrioles are present in Tribolium sperm [PDF]

Open Biology, 2017
Typical centrioles are made of microtubules organized in ninefold symmetry. Most animal somatic cells have two centrioles for normal cell division and function.
E. L. Fishman, Kyoung Jo, Andrew Ha, Rachel Royfman, Ashtyn Zinn, Malathi Krishnamurthy, Tomer Avidor-Reiss   +6 more
doaj   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

The interrelationship between APC/C and Plk1 activities in centriole disengagement

Biology Open, 2012
Summary Mother–daughter centriole disengagement, the necessary first step in centriole duplication, involves Plk1 activity in early mitosis and separase activity after APC/C activity mediates securin degradation.
Toshiyuki Hatano, Greenfield Sluder
doaj   +1 more source

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]

, 2016
The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina, John, Emily, Mahjoub, Moe R, Mitchell, Brian J, Moresco, James J, Silva, Erica, Spear, Philip, Yates, John R, III, Zhang, Siwei   +8 more
core   +2 more sources

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +3 more sources

Flies without Centrioles [PDF]

Cell, 2006
Centrioles and centrosomes have an important role in animal cell organization, but it is uncertain to what extent they are essential for animal development. The Drosophila protein DSas-4 is related to the human microcephaly protein CenpJ and the C. elegans centriolar protein Sas-4.
Basto, Renata, Lau, Joyce, Vinogradova, Tatiana, Gardiol, Alejandra, Woods, C. Geoffrey, Khodjakov, Alexey, Raff, Jordan   +6 more
openaire   +3 more sources

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Pericentrin-mediated SAS-6 recruitment promotes centriole assembly

eLife, 2019
The centrosome is composed of two centrioles surrounded by a microtubule-nucleating pericentriolar material (PCM). Although centrioles are known to regulate PCM assembly, it is less known whether and how the PCM contributes to centriole assembly. Here we
Daisuke Ito, Sihem Zitouni, Swadhin Chandra Jana, Paulo Duarte, Jaroslaw Surkont, Zita Carvalho-Santos, José B Pereira-Leal, Miguel Godinho Ferreira, Mónica Bettencourt-Dias   +8 more
doaj   +1 more source