Cargando…

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a f...

Descripción completa

Detalles Bibliográficos
Autores principales:	Avagliano, Laura, Grazioli, Paolo, Mariani, Milena, Bulfamante, Gaetano P., Selicorni, Angelo, Massa, Valentina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696803/ https://www.ncbi.nlm.nih.gov/pubmed/29162129 http://dx.doi.org/10.1186/s13023-017-0723-0

Ejemplares similares

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

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum
por: Selicorni, Angelo, et al.
Publicado: (2021)

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

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

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

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

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
por: Gervasini, Cristina, et al.
Publicado: (2013)

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)

Neuropsychiatric manifestations in Cornelia de Lange syndrome
por: Majdoub, F., et al.
Publicado: (2023)

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

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)

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports
por: Onesimo, Roberta, et al.
Publicado: (2023)

Cornelia De-Lange Syndrome: A Case Report
por: Mehta, Diana Noshir, et al.
Publicado: (2013)

Case Report: Atypical Cornelia de Lange Syndrome
por: Leanza, Vito, et al.
Publicado: (2015)

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

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study
por: Ajmone, Paola Francesca, et al.
Publicado: (2022)

Three-Dimensional Ultrasound Findings in Cornelia de Lange Syndrome: A Case Report
por: Akahori, Yoichiro, et al.
Publicado: (2012)

Cornelia de Lange DX clínico y genético : revisión bibliográfica
por: Navarro Ochoa , Luis Francisco
Publicado: (2001)

A case of Cornelia de Lange syndrome from Sudan
por: Ellaithi, Mona, et al.
Publicado: (2007)

Anesthetic considerations in a patient with Cornelia de-Lange syndrome
por: Vestergaard, Lars, et al.
Publicado: (2015)

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome
por: de Graaf, Michael, et al.
Publicado: (2017)

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

An experimental study of executive function and social impairment in Cornelia de Lange syndrome
por: Nelson, Lisa, et al.
Publicado: (2017)

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)

A newborn with Cornelia de Lange syndrome: a case report
por: Uzun, Hakan, et al.
Publicado: (2008)

Aesthetic and functional management of a patient with Cornelia de Lange syndrome
por: Johns, Dexton Antony, et al.
Publicado: (2012)

Rare cerebrovascular anomalies in a patient with Cornelia De Lange Syndrome
por: Jones, Jesse, et al.
Publicado: (2015)

Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome
por: Parisi, Lucia, et al.
Publicado: (2015)

Obstructive Sleep Apnea in a Patient with Cornelia de Lange Syndrome
por: Mashaqi, Saif, et al.
Publicado: (2017)

A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis
por: Kinjo, Tadatsugu, et al.
Publicado: (2019)

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

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
por: Sarogni, Patrizia, et al.
Publicado: (2020)

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome
por: Mannini, Linda, et al.
Publicado: (2015)

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

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

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

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

BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
por: García-Gutiérrez, Pablo, et al.
Publicado: (2021)

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

Cannot write session to /tmp/vufind_sessions/sess_kipu2ijums0l0u17r565rke13q