000060702 001__ 60702 000060702 005__ 20230706131401.0 000060702 0247_ $$2doi$$a10.3390/ijms18030481 000060702 0248_ $$2sideral$$a98212 000060702 037__ $$aART-2017-98212 000060702 041__ $$aeng 000060702 100__ $$0(orcid)0000-0003-0170-7326$$aPuisac, B.$$uUniversidad de Zaragoza 000060702 245__ $$amRNA quantification of NIPBL isoforms A and B in adult and fetal human tissues, and a potentially pathological variant affecting only isoform a in two patients with Cornelia de Lange syndrome 000060702 260__ $$c2017 000060702 5060_ $$aAccess copy available to the general public$$fUnrestricted 000060702 5203_ $$aCornelia de Lange syndrome (CdLS) is a congenital developmental disorder characterized by craniofacial dysmorphia, growth retardation, limb malformations, and intellectual disability. Approximately 60% of patients with CdLS carry a recognizable pathological variant in the NIPBL gene, of which two isoforms, A and B, have been identified, and which only differ in the C-terminal segment. In this work, we describe the distribution pattern of the isoforms A and B mRNAs in tissues of adult and fetal origin, by qPCR (quantitative polymerase chain reaction). Our results show a higher gene expression of the isoform A, even though both seem to have the same tissue distribution. Interestingly, the expression in fetal tissues is higher than that of adults, especially in brain and skeletal muscle. Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys), showed a similar reduction in both isoforms, and a normal sensitivity to DNA damage. Overall, these results suggest that the position of the pathological variant at the 3´ end of the NIPBL gene affecting only isoform A, is likely to be the cause of the atypical mild phenotype of the two brothers. 000060702 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B20$$9info:eu-repo/grantAgreement/ES/FIS/PI15-00707$$9info:eu-repo/grantAgreement/ES/MICINN/IPT2011-0964-900000$$9info:eu-repo/grantAgreement/ES/MICINN/SAF2011-13156-E 000060702 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/ 000060702 590__ $$a3.687$$b2017 000060702 591__ $$aBIOCHEMISTRY & MOLECULAR BIOLOGY$$b90 / 292 = 0.308$$c2017$$dQ2$$eT1 000060702 591__ $$aCHEMISTRY, MULTIDISCIPLINARY$$b52 / 169 = 0.308$$c2017$$dQ2$$eT1 000060702 592__ $$a1.26$$b2017 000060702 593__ $$aMedicine (miscellaneous)$$c2017$$dQ1 000060702 593__ $$aPhysical and Theoretical Chemistry$$c2017$$dQ1 000060702 593__ $$aComputer Science Applications$$c2017$$dQ1 000060702 593__ $$aInorganic Chemistry$$c2017$$dQ1 000060702 593__ $$aSpectroscopy$$c2017$$dQ1 000060702 593__ $$aOrganic Chemistry$$c2017$$dQ1 000060702 593__ $$aMolecular Biology$$c2017$$dQ2 000060702 593__ $$aCatalysis$$c2017$$dQ2 000060702 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000060702 700__ $$0(orcid)0000-0002-7528-8518$$aTeresa-Rodrigo, M. 000060702 700__ $$0(orcid)0000-0001-8457-1377$$aHernández-Marcos, M. 000060702 700__ $$aBaquero-Montoya, C. 000060702 700__ $$0(orcid)0000-0002-9157-1444$$aGil-Rodríguez, M.C$$uUniversidad de Zaragoza 000060702 700__ $$aVisnes, T. 000060702 700__ $$aBot, C. 000060702 700__ $$aGómez-Puertas, P. 000060702 700__ $$aKaiser, F.J. 000060702 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F.J.$$uUniversidad de Zaragoza 000060702 700__ $$aStröm, L. 000060702 700__ $$0(orcid)0000-0003-3203-6254$$aPié, J.$$uUniversidad de Zaragoza 000060702 7102_ $$11005$$2410$$aUniversidad de Zaragoza$$bDpto. Farmacología y Fisiolog.$$cÁrea Fisiología 000060702 7102_ $$11010$$2670$$aUniversidad de Zaragoza$$bDpto. Pediatría Radiol.Med.Fís$$cÁrea Pediatría 000060702 773__ $$g18, 3 (2017), 481 [12 pp]$$pInt. j. mol. sci.$$tInternational Journal of Molecular Sciences$$x1661-6596 000060702 8564_ $$s3206701$$uhttps://zaguan.unizar.es/record/60702/files/texto_completo.pdf$$yVersión publicada 000060702 8564_ $$s107013$$uhttps://zaguan.unizar.es/record/60702/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000060702 909CO $$ooai:zaguan.unizar.es:60702$$particulos$$pdriver 000060702 951__ $$a2023-07-06-12:20:23 000060702 980__ $$aARTICLE