Cargando…

Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome

The patients with DiGeorge syndrome (DGS), caused by deletion containing dozens of genes in chromosome 22, often carry cardiovascular problem and hearing loss associated with chronic otitis media. Inside the deletion region, a transcription factor TBX1 was highly suspected. Furthermore, similar DGS...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Jiaofeng, Zhang, Xue, Li, Jie, Song, Chenmeng, Jia, Yichang, Xiong, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220494/ https://www.ncbi.nlm.nih.gov/pubmed/28105375 http://dx.doi.org/10.1155/2016/5836143

Ejemplares similares

MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome
por: Voss, Anne K., et al.
Publicado: (2012)

Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
por: Laccetta, Gianluigi, et al.
Publicado: (2015)

Follicular Helper T Cells in DiGeorge Syndrome
por: Klocperk, Adam, et al.
Publicado: (2018)

DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
por: Alkan, Gülsüm, et al.
Publicado: (2017)

DiGeorge’s syndrome presenting as hypocalcemia in an adult
por: Aljabri, K.S., et al.
Publicado: (2005)

Craniofacial Phenotypes and Genetics of DiGeorge Syndrome
por: Funato, Noriko
Publicado: (2022)

Psychiatric Comorbidities in Adults with DiGeorge Syndrome
por: Patel, Hiren, et al.
Publicado: (2022)

DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and Differentiation
por: Choudhry, Priya, et al.
Publicado: (2013)

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci
por: Morcel, Karine, et al.
Publicado: (2011)

DiGeorge Syndrome: a not so rare disease
por: Fomin, Angela BF, et al.
Publicado: (2010)

Infectious Complications of DiGeorge Syndrome in the Setting of Malignancy
por: Hare, Heather, et al.
Publicado: (2022)

A young man with DiGeorge syndrome and tachycardia
por: Bradt, Nicolas, et al.
Publicado: (2023)

A young man with DiGeorge syndrome and tachycardia
por: Bradt, Nicolas, et al.
Publicado: (2023)

DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood
por: Johnston, Philip C, et al.
Publicado: (2008)

DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood
por: Zammit, Adrian, et al.
Publicado: (2013)

Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome
por: Berruto, Massimo, et al.
Publicado: (2015)

DiGeorge syndrome who developed lymphoproliferative mediastinal mass
por: Kim, Kyu Yeun, et al.
Publicado: (2015)

“FISHed” out the diagnosis: A case of DiGeorge syndrome
por: Bajaj, S, et al.
Publicado: (2016)

Thymus transplantation for complete DiGeorge syndrome: European experience
por: Davies, E. Graham, et al.
Publicado: (2017)

Schizophrenia in DiGeorge Syndrome: A Unique Case Report
por: Rizvi, Sukaina, et al.
Publicado: (2018)

Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome
por: Ruhe, Ann Marie, et al.
Publicado: (2018)

DiGeorge Syndrome and COVID-19 in Two Pediatric Patients
por: Fallatah, Eilaf, et al.
Publicado: (2021)

Camptodactyly and DiGeorge syndrome: A rare hand anomaly
por: Hurley, C.M., et al.
Publicado: (2021)

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome
por: Menghi, Michela, et al.
Publicado: (2023)

DiGeorge Syndrome With Absence of Speech: A Rare Case
por: Jayaprakasan, Srilakshmi K, et al.
Publicado: (2023)

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome
por: Lania, Gabriella, et al.
Publicado: (2017)

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome
por: Lania, Gabriella, et al.
Publicado: (2016)

Endothelial Neuropilin Disruption in Mice Causes DiGeorge Syndrome-Like Malformations via Mechanisms Distinct to Those Caused by Loss of Tbx1
por: Zhou, Jingjing, et al.
Publicado: (2012)

Aspiration pneumonia in the child with DiGeorge syndrome -A case report-
por: Lee, Ji-Young, et al.
Publicado: (2011)

Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia
por: Davies, E. Graham
Publicado: (2013)

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
por: Froňková, Eva, et al.
Publicado: (2014)

An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome
por: Vergés, Laia, et al.
Publicado: (2017)

DiGeorge syndrome: Relevance of psychiatric symptoms in undiagnosed adult patients
por: Kraus, Christoph, et al.
Publicado: (2018)

Wandering spleen with splenic torsion in a child with DiGeorge syndrome
por: Taylor, Charlotte S., et al.
Publicado: (2019)

Diversification, not use, of the immunoglobulin VH gene repertoire is restricted in DiGeorge syndrome
Publicado: (1993)

The evaluation of DiGeorge syndrome gene deletion using molecular cytogenetic techniques
por: Bahamat, Abeer A, et al.
Publicado: (2014)

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports
por: Yasuda, Kazushi, et al.
Publicado: (2016)

Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report
por: Molebatsi, Keneilwe, et al.
Publicado: (2018)

An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
por: Dhoot, Roshni, et al.
Publicado: (2020)

Ruptured Sinus of Valsalva Aneurysm Mimicking Infective Endocarditis in DiGeorge Syndrome
por: Bhimani, Salima A., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_v4srgmvn0jmmjugechuhkcl6oq