ATR promotes cilia signalling: links to developmental impacts

Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder. Hitherto, the clinical manifestation of ATR deficiency has been attributed to its canonical role in DNA damage response signalling following replication fork stallin...

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Veröffentlicht in:	Human molecular genetics 2016-04, Vol.25 (8), p.1574-1587
Hauptverfasser:	Stiff, Tom, Casar Tena, Teresa, O'Driscoll, Mark, Jeggo, Penny A, Philipp, Melanie
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Ataxia Telangiectasia Mutated Proteins - genetics Ataxia Telangiectasia Mutated Proteins - metabolism Cell Line Cilia - metabolism Cilia - pathology Danio rerio Disease Models, Animal DNA Replication Dwarfism - genetics Dwarfism - pathology Facies Gene Expression Regulation, Developmental Humans Microcephaly - genetics Microcephaly - pathology Signal Transduction Zebrafish - embryology Zebrafish - genetics Zebrafish - metabolism Zebrafish Proteins - genetics Zebrafish Proteins - metabolism
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