Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.

Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.

22q11 deletion syndrome (22q11DS) is characterised by aberrant development of the pharyngeal apparatus and the heart with haploinsufficiency of the transcription factor TBX1 being considered the major underlying cause of the disease. Tbx1 mutations in mouse phenocopy the disorder. In order to identi...

Полное описание

Библиографические подробности
Главные авторы:	van Bueren, K, Papangeli, I, Rochais, F, Pearce, K, Roberts, C, Calmont, A, Szumska, D, Kelly, R, Bhattacharya, S, Scambler, P
Формат:	Journal article
Язык:	English
Опубликовано:	2010

Схожие документы

Dissecting the embryonic requirement of the Notch pathway gene, Hes1, in the context of DiGeorge syndrome
по: Papangeli, I, и др.
Опубликовано: (2009)

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.
по: Dykes, I, и др.
Опубликовано: (2014)

HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region
по: Dykes, IM, и др.
Опубликовано: (2014)

Defective Vagal Innervation in Murine Tbx1 Mutant Hearts
по: Amélie Calmont, и др.
Опубликовано: (2018-09-01)

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.
по: Murim Choi, и др.
Опубликовано: (2009-02-01)

P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome
по: Donna McDonald-McGinn, и др.
Опубликовано: (2024-01-01)

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.
по: Silvia E Racedo, и др.
Опубликовано: (2017-03-01)

Pharmacological Rescue of the Brain Cortex Phenotype of Tbx1 Mouse Mutants: Significance for 22q11.2 Deletion Syndrome
по: Ilaria Favicchia, и др.
Опубликовано: (2021-09-01)

Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome
по: Tae-Yeon Eom, и др.
Опубликовано: (2024-12-01)

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
по: Tsutomu Ogata, и др.
Опубликовано: (2014-01-01)

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
по: Gioia Mastromoro, и др.
Опубликовано: (2019-01-01)

Screening Method for 22q11 Deletion Syndrome Involving the Use of TaqMan qPCR for <i>TBX1</i> in Patients with Conotruncal Congenital Heart Disease
по: Felix-Julian Campos-Garcia, и др.
Опубликовано: (2022-08-01)

Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.
по: F Gabriella Fulcoli, и др.
Опубликовано: (2009-06-01)

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling
по: Simrick, S, и др.
Опубликовано: (2012)

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.
по: Simrick, S, и др.
Опубликовано: (2012)

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
по: Yingjie Zhao, и др.
Опубликовано: (2023-07-01)

The NOTCH-HES-1 axis is involved in promoting Th22 cell differentiation
по: Chong Zeng, и др.
Опубликовано: (2021-02-01)

HES1 is required for mouse fetal hematopoiesis
по: Anthony Z. Zhu, и др.
Опубликовано: (2024-07-01)

Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.
по: Jennifer C Fuchs, и др.
Опубликовано: (2013-01-01)

Two Cases of 22Q11.2 Deletion Syndrome and Type 1 Diabetes
по: Melissa A. Chambers, DO, и др.
Опубликовано: (2018-05-01)

Correction: Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome.
по: Jennifer C. Fuchs, и др.
Опубликовано: (2014-01-01)

Sumoylation of Hes6 Regulates Protein Degradation and Hes1-Mediated Transcription
по: Jiwon Lee, и др.
Опубликовано: (2015-09-01)

Deletion 22q13.3 syndrome
по: Phelan Mary C
Опубликовано: (2008-05-01)

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.
по: Maitha Almakhari, и др.
Опубликовано: (2024-01-01)

Control of Hes7 expression by Tbx6, the Wnt pathway and the chemical Gsk3 inhibitor LiCl in the mouse segmentation clock.
по: Aitor González, и др.
Опубликовано: (2013-01-01)

Hyperhomocysteinemia induces injury in olfactory bulb neurons by downregulating Hes1 and Hes5 expression
по: Jing-wen Zhang, и др.
Опубликовано: (2018-01-01)

Congenital cardiac defects with 22q11 deletion
по: Ozlem Giray, и др.
Опубликовано: (2003-07-01)

9q22 Deletion - First Familial Case
по: Yamamoto Toshiyuki, и др.
Опубликовано: (2011-06-01)

Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency.
по: Mahalia Page, и др.
Опубликовано: (2018-01-01)

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
по: Mulatinho Milene, и др.
Опубликовано: (2012-06-01)

Role and regulation of TBX2 and TBX3
по: Schmidt, J
Опубликовано: (2015)

The Genetics and Epigenetics of 22q11.2 Deletion Syndrome
по: Qiumei Du, и др.
Опубликовано: (2020-02-01)

Hematological abnormalities and 22q11.2 deletion syndrome
по: Rafael Fabiano Machado Rosa, и др.
Опубликовано: (2011-01-01)

Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2→q11.21)
по: Chih-Ping Chen, и др.
Опубликовано: (2013-03-01)

HES1 and HES4 have non-redundant roles downstream of Notch during early human T-cell development
по: Matthias De Decker, и др.
Опубликовано: (2020-01-01)

Lack of Genetic Interaction between Tbx18 and Tbx2/Tbx20 in Mouse Epicardial Development.
по: Franziska Greulich, и др.
Опубликовано: (2016-01-01)

FAMILIAL CASE OF CHROMOSOME 22q11.2 DELETION SYNDROME
по: I. A. Tuzankina, и др.
Опубликовано: (2017-01-01)

Psychiatric disorders associated with 22q11.2 deletion syndrome
по: Orsola Gambini
Опубликовано: (2016-06-01)

22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment
по: Leyla S. Namazova-Baranova, и др.
Опубликовано: (2016-12-01)

Neuropsychological and Language Deficits in 22q11.2 Deletion Syndrome
по: J Gordon Millichap, и др.
Опубликовано: (2014-07-01)