نتایج جستجو برای: ofd1

تعداد نتایج: 97  

2013
James E. Sillibourne Ilse Hurbain Thierry Grand-Perret Bruno Goud Phong Tran Michel Bornens

Primary cilium formation is initiated at the distal end of the mother centriole in a highly co-ordinated manner. This requires the capping of the distal end of the mother centriole with a ciliary vesicle and the anchoring of the basal body (mother centriole) to the cell cortex, both of which are mediated by the distal appendages. Here, we show that the distal appendage protein Cep123 (Cep89/CCD...

2014
Jane Andre Louise Kerry Xin Qi Erica Hawkins Kristina Drižytė Michael L. Ginger Paul G. McKean

The tubulin cofactor C domain-containing protein TbRP2 is a basal body (centriolar) protein essential for axoneme formation in the flagellate protist Trypanosoma brucei, the causal agent of African sleeping sickness. Here, we show how TbRP2 is targeted and tethered at mature basal bodies and provide novel insight into TbRP2 function. Regarding targeting, understanding how several hundred protei...

Journal: :American journal of medical genetics. Part A 2010
A M Lehman P Eydoux D Doherty I A Glass D Chitayat B Y H Chung S Langlois S L Yong R B Lowry F Hildebrandt P Trnka

Ciliary disorders share typical features, such as polydactyly, renal and biliary cystic dysplasia, and retinitis pigmentosa, which often overlap across diagnostic entities. We report on two siblings of consanguineous parents and two unrelated children, both of unrelated parents, with co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy, an association that adds to the obs...

Journal: :Mechanisms of Development 2009
Ben Chih Andrew Peterson

hemizygous male mutants die by E12 and display neural tube defects, exencephaly and left–right asymmetry. Analysis of heterozygous female mutants revealed a severe brain phenotype including expansion of the ventral telencephalon in the dorsal part of the brain, reduction of the cortex and defects in the formation of dorsomedial telencephalic structures from E12.5. Morphological staining of muta...

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