000057816 001__ 57816
000057816 005__ 20170504090233.0
000057816 0247_ $$2doi$$a10.3390/ijms150610350
000057816 0248_ $$2sideral$$a87019
000057816 037__ $$aART-2014-87019
000057816 041__ $$aeng
000057816 100__ $$aTeresa-Rodrigo, M.
000057816 245__ $$aFunctional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with cornelia de lange syndrome
000057816 260__ $$c2014
000057816 5060_ $$aAccess copy available to the general public$$fUnrestricted
000057816 5203_ $$aCornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by distinctive craniofacial features, growth retardation, cognitive impairment, limb defects, hirsutism, and multisystem involvement. Mutations in five genes encoding structural components (SMC1A, SMC3, RAD21) or functionally associated factors (NIPBL, HDAC8) of the cohesin complex have been found in patients with CdLS. In about 60% of the patients, mutations in NIPBL could be identified. Interestingly, 17% of them are predicted to change normal splicing, however, detailed molecular investigations are often missing. Here, we report the first systematic study of the physiological splicing of the NIPBL gene, that would reveal the identification of four new splicing isoforms ¿E10, ¿E12, ¿E33,34, and B’. Furthermore, we have investigated nine mutations affecting splice-sites in the NIPBL gene identified in twelve CdLS patients. All mutations have been examined on the DNA and RNA level, as well as by in silico analyses. Although patients with mutations affecting NIPBL splicing show a broad clinical variability, the more severe phenotypes seem to be associated with aberrant transcripts resulting in a shift of the reading frame.
000057816 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B20$$9info:eu-repo/grantAgreement/ES/FIS/PI12-01318$$9info:eu-repo/grantAgreement/ES/UZ/UZ2011-BIO-02
000057816 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000057816 590__ $$a2.862$$b2014
000057816 591__ $$aCHEMISTRY, MULTIDISCIPLINARY$$b45 / 154 = 0.292$$c2014$$dQ2$$eT1
000057816 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b134 / 290 = 0.462$$c2014$$dQ2$$eT2
000057816 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000057816 700__ $$aEckhold, J.
000057816 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, B.$$uUniversidad de Zaragoza
000057816 700__ $$aDalski, A.
000057816 700__ $$0(orcid)0000-0002-9157-1444$$aGil-Rodríguez, M.C.
000057816 700__ $$aBraunholz, D.
000057816 700__ $$aBaquero, C.
000057816 700__ $$0(orcid)0000-0001-8457-1377$$aHernández-Marcos, M.
000057816 700__ $$ade Karam, J.C.
000057816 700__ $$aCiero, M.
000057816 700__ $$aSantos-Simarro, F.
000057816 700__ $$aLapunzina, P.
000057816 700__ $$aWierzba, J.
000057816 700__ $$aCasale, C.H.
000057816 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F.J.$$uUniversidad de Zaragoza
000057816 700__ $$aGillessen-Kaesbach, G.
000057816 700__ $$aKaiser, F.J.
000057816 700__ $$0(orcid)0000-0003-3203-6254$$aPié, J.$$uUniversidad de Zaragoza
000057816 7102_ $$11005$$2410$$aUniversidad de Zaragoza$$bDepartamento de Farmacología y Fisiología$$cFisiología
000057816 7102_ $$11010$$2670$$aUniversidad de Zaragoza$$bDepartamento de Pediatría, Radiología y Medicina Física$$cPediatría
000057816 773__ $$g15, 6 (2014), 10350-10364$$pInt. j. mol. sci.$$tINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES$$x1661-6596
000057816 8564_ $$s941558$$uhttps://zaguan.unizar.es/record/57816/files/texto_completo.pdf$$yVersión publicada
000057816 8564_ $$s95322$$uhttps://zaguan.unizar.es/record/57816/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000057816 909CO $$ooai:zaguan.unizar.es:57816$$particulos$$pdriver
000057816 951__ $$a2017-05-04-09:00:11
000057816 980__ $$aARTICLE