Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

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Fältnamn	Indikatorer	Metadata
000		04747naa a2201033 4500
001		oai:DiVA.org:uu-171658
003		SwePub
008		120325s2012 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1716582 URI
024	7	a https://doi.org/10.1038/ng.10842 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Anderson, Beverley H.4 aut
245	1 0	a Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
264		c 2012-01-22
264	1	b Springer Science and Business Media LLC,c 2012
338		a print2 rdacarrier
520		a Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
700	1	a Kasher, Paul R.4 aut
700	1	a Mayer, Josephine4 aut
700	1	a Szynkiewicz, Marcin4 aut
700	1	a Jenkinson, Emma M.4 aut
700	1	a Bhaskar, Sanjeev S.4 aut
700	1	a Urquhart, Jill E.4 aut
700	1	a Daly, Sarah B.4 aut
700	1	a Dickerson, Jonathan E.4 aut
700	1	a O'Sullivan, James4 aut
700	1	a Leibundgut, Elisabeth Oppliger4 aut
700	1	a Muter, Joanne4 aut
700	1	a Abdel-Salem, Ghada M. H.4 aut
700	1	a Babul-Hirji, Riyana4 aut
700	1	a Baxter, Peter4 aut
700	1	a Berger, Andrea4 aut
700	1	a Bonafe, Luisa4 aut
700	1	a Brunstom-Hernandez, Janice E.4 aut
700	1	a Buckard, Johannes A.4 aut
700	1	a Chitayat, David4 aut
700	1	a Chong, Wui K.4 aut
700	1	a Cordelli, Duccio M.4 aut
700	1	a Ferreira, Patrick4 aut
700	1	a Fluss, Joel4 aut
700	1	a Forrest, Ewan H.4 aut
700	1	a Franzoni, Emilio4 aut
700	1	a Garone, Caterina4 aut
700	1	a Hammans, Simon R.4 aut
700	1	a Houge, Gunnar4 aut
700	1	a Hughes, Imelda4 aut
700	1	a Jacquemont, Sebastien4 aut
700	1	a Jeannet, Pierre-Yves4 aut
700	1	a Jefferson, Rosalind J.4 aut
700	1	a Kumar, Ram4 aut
700	1	a Kutschke, Georg4 aut
700	1	a Lundberg, Staffan,d 1956-u Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten4 aut0 (Swepub:uu)staflund
700	1	a Lourenco, Charles M.4 aut
700	1	a Mehta, Ramesh4 aut
700	1	a Naidu, Sakkubai4 aut
700	1	a Nischal, Ken K.4 aut
700	1	a Nunes, Luis4 aut
700	1	a Ounap, Katrin4 aut
700	1	a Philippart, Michel4 aut
700	1	a Prabhakar, Prab4 aut
700	1	a Risen, Sarah R.4 aut
700	1	a Schiffmann, Raphael4 aut
700	1	a Soh, Calvin4 aut
700	1	a Stephenson, John B. P.4 aut
700	1	a Stewart, Helen4 aut
700	1	a Stone, Jon4 aut
700	1	a Tolmie, John L.4 aut
700	1	a van der Knaap, Marjo S.4 aut
700	1	a Vieira, Jose P.4 aut
700	1	a Vilain, Catheline N.4 aut
700	1	a Wakeling, Emma L.4 aut
700	1	a Wermenbol, Vanessa4 aut
700	1	a Whitney, Andrea4 aut
700	1	a Lovell, Simon C.4 aut
700	1	a Meyer, Stefan4 aut
700	1	a Livingston, John H.4 aut
700	1	a Baerlocher, Gabriela M.4 aut
700	1	a Black, Graeme C. M.4 aut
700	1	a Rice, Gillian I.4 aut
700	1	a Crow, Yanick J.4 aut
710	2	a Uppsala universitetb Institutionen för kvinnors och barns hälsa4 org
773	0	t Nature Geneticsd : Springer Science and Business Media LLCg 44:3, s. 338-342q 44:3<338-342x 1061-4036x 1546-1718
856	4	u http://repositorio.chlc.min-saude.pt/bitstream/10400.17/2516/1/Nature%20Genet%202012_44_338.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-171658
856	4 8	u https://doi.org/10.1038/ng.1084

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Av författaren/redakt...: Anderson, Beverl ...; Kasher, Paul R.; Mayer, Josephine; Szynkiewicz, Mar ...; Jenkinson, Emma ...; Bhaskar, Sanjeev ...; visa fler...; Urquhart, Jill E ...; Daly, Sarah B.; Dickerson, Jonat ...; O'Sullivan, Jame ...; Leibundgut, Elis ...; Muter, Joanne; Abdel-Salem, Gha ...; Babul-Hirji, Riy ...; Baxter, Peter; Berger, Andrea; Bonafe, Luisa; Brunstom-Hernand ...; Buckard, Johanne ...; Chitayat, David; Chong, Wui K.; Cordelli, Duccio ...; Ferreira, Patric ...; Fluss, Joel; Forrest, Ewan H.; Franzoni, Emilio; Garone, Caterina; Hammans, Simon R ...; Houge, Gunnar; Hughes, Imelda; Jacquemont, Seba ...; Jeannet, Pierre- ...; Jefferson, Rosal ...; Kumar, Ram; Kutschke, Georg; Lundberg, Staffa ...; Lourenco, Charle ...; Mehta, Ramesh; Naidu, Sakkubai; Nischal, Ken K.; Nunes, Luis; Ounap, Katrin; Philippart, Mich ...; Prabhakar, Prab; Risen, Sarah R.; Schiffmann, Raph ...; Soh, Calvin; Stephenson, John ...; Stewart, Helen; Stone, Jon; Tolmie, John L.; van der Knaap, M ...; Vieira, Jose P.; Vilain, Cathelin ...; Wakeling, Emma L ...; Wermenbol, Vanes ...; Whitney, Andrea; Lovell, Simon C.; Meyer, Stefan; Livingston, John ...; Baerlocher, Gabr ...; Black, Graeme C. ...; Rice, Gillian I.; Crow, Yanick J.; visa färre...

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Av lärosätet: Uppsala universitet

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