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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	van Bueren, K, Papangeli, I, Rochais, F, Pearce, K, Roberts, C, Calmont, A, Szumska, D, Kelly, R, Bhattacharya, S, Scambler, P
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2010

Παρόμοια τεκμήρια

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ανά: Papangeli, I, κ.ά.
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ανά: Dykes, I, κ.ά.
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ανά: Dykes, IM, κ.ά.
Έκδοση: (2014)

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ανά: Amélie Calmont, κ.ά.
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ανά: Murim Choi, κ.ά.
Έκδοση: (2009-02-01)

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ανά: Silvia E Racedo, κ.ά.
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ανά: Ilaria Favicchia, κ.ά.
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ανά: Tae-Yeon Eom, κ.ά.
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TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
ανά: Tsutomu Ogata, κ.ά.
Έκδοση: (2014-01-01)

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.
ανά: Gioia Mastromoro, κ.ά.
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ανά: Felix-Julian Campos-Garcia, κ.ά.
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Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.
ανά: F Gabriella Fulcoli, κ.ά.
Έκδοση: (2009-06-01)

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling
ανά: Simrick, S, κ.ά.
Έκδοση: (2012)

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.
ανά: Simrick, S, κ.ά.
Έκδοση: (2012)

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ανά: Yingjie Zhao, κ.ά.
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ανά: Chong Zeng, κ.ά.
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HES1 is required for mouse fetal hematopoiesis
ανά: Anthony Z. Zhu, κ.ά.
Έκδοση: (2024-07-01)

Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.
ανά: Jennifer C Fuchs, κ.ά.
Έκδοση: (2013-01-01)

Two Cases of 22Q11.2 Deletion Syndrome and Type 1 Diabetes
ανά: Melissa A. Chambers, DO, κ.ά.
Έκδοση: (2018-05-01)

Correction: Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome.
ανά: Jennifer C. Fuchs, κ.ά.
Έκδοση: (2014-01-01)

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ανά: Jiwon Lee, κ.ά.
Έκδοση: (2015-09-01)

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

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.
ανά: Maitha Almakhari, κ.ά.
Έκδοση: (2024-01-01)

Control of Hes7 expression by Tbx6, the Wnt pathway and the chemical Gsk3 inhibitor LiCl in the mouse segmentation clock.
ανά: Aitor González, κ.ά.
Έκδοση: (2013-01-01)

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ανά: Jing-wen Zhang, κ.ά.
Έκδοση: (2018-01-01)

Congenital cardiac defects with 22q11 deletion
ανά: Ozlem Giray, κ.ά.
Έκδοση: (2003-07-01)

9q22 Deletion - First Familial Case
ανά: Yamamoto Toshiyuki, κ.ά.
Έκδοση: (2011-06-01)

Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency.
ανά: Mahalia Page, κ.ά.
Έκδοση: (2018-01-01)

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
ανά: Mulatinho Milene, κ.ά.
Έκδοση: (2012-06-01)

Role and regulation of TBX2 and TBX3
ανά: Schmidt, J
Έκδοση: (2015)

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Έκδοση: (2020-02-01)

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Έκδοση: (2011-01-01)

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Έκδοση: (2013-03-01)

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Έκδοση: (2020-01-01)

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Έκδοση: (2016-01-01)

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ανά: J Gordon Millichap, κ.ά.
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