Cargando…

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Cornelia 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...

Descripción completa

Detalles Bibliográficos
Autores principales:	Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C., Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C., Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H., Ramos, Feliciano J., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J., Pié, Juan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100155/ https://www.ncbi.nlm.nih.gov/pubmed/24918291 http://dx.doi.org/10.3390/ijms150610350

Ejemplares similares

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome
por: Teresa-Rodrigo, María E., et al.
Publicado: (2016)

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
por: Wierzba, Jolanta, et al.
Publicado: (2012)

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
por: Garcia, Patricia, et al.
Publicado: (2021)

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11
por: Latorre‐Pellicer, Ana, et al.
Publicado: (2021)

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
por: Latorre-Pellicer, Ana, et al.
Publicado: (2021)

Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
por: Krawczynska, Natalia, et al.
Publicado: (2018)

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
por: Kuzniacka, Alina, et al.
Publicado: (2012)

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
por: Kuzniacka, Alina, et al.
Publicado: (2013)

mRNA 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
por: Puisac, Beatriz, et al.
Publicado: (2017)

Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
por: Park, Kyung-Hee, et al.
Publicado: (2010)

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
por: Thanh, Duong Chi, et al.
Publicado: (2020)

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
por: Krawczynska, Natalia, et al.
Publicado: (2019)

Cornelia de Lange syndrome and cancer: An open question
por: Pallotta, Maria M., et al.
Publicado: (2022)

Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases
por: Bajaj, Shailesh, et al.
Publicado: (2013)

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
por: Mende, Rose H., et al.
Publicado: (2012)

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
por: Trujillano, Laura, et al.
Publicado: (2022)

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients
por: Peng, Ying, et al.
Publicado: (2021)

A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome
por: Chen, Yonghua, et al.
Publicado: (2022)

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion
por: Panarotto, Melanie, et al.
Publicado: (2022)

High rate of autonomic neuropathy in Cornelia de Lange Syndrome
por: Pablo, M. J., et al.
Publicado: (2021)

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
por: Latorre-Pellicer, Ana, et al.
Publicado: (2020)

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
por: Gil-Salvador, Marta, et al.
Publicado: (2022)

Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome
por: Muto, Akihiko, et al.
Publicado: (2011)

Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl (+/−) Mouse, a Model of Cornelia de Lange Syndrome
por: Kawauchi, Shimako, et al.
Publicado: (2009)

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts
por: Pistocchi, A, et al.
Publicado: (2013)

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
por: Lucia-Campos, Cristina, et al.
Publicado: (2022)

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF
por: Nolen, Leisha D., et al.
Publicado: (2013)

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome
por: Shi, Meizhen, et al.
Publicado: (2022)

Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
por: Krawczynska, Natalia, et al.
Publicado: (2019)

Cornelia de lange syndrome
por: Tayebi, Naeimeh
Publicado: (2008)

Cornelia de Lange syndrome
por: Reddy, H. Babul, et al.
Publicado: (2013)

The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes
por: Luna-Peláez, Noelia, et al.
Publicado: (2019)

Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report
por: Galehdari, Hamid, et al.
Publicado: (2011)

The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome
por: Newkirk, Daniel A., et al.
Publicado: (2017)

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
por: Grazioli, Paolo, et al.
Publicado: (2021)

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
por: Kline, Antonie D., et al.
Publicado: (2018)

Case Report: Prenatal Whole-Exome Sequencing to Identify a Novel Heterozygous Synonymous Variant in NIPBL in a Fetus With Cornelia de Lange Syndrome
por: Qiao, Fengchang, et al.
Publicado: (2021)

Dental Findings in Cornelia De Lange Syndrome
por: Toker, Aslihan Soyal, et al.
Publicado: (2009)

Cornelia De Lange Syndrome and Cochlear Implantation
por: Psillas, George, et al.
Publicado: (2018)

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies
por: Parenti, Ilaria, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4tp8daphs9s2712sq0gvo97oi5