Cited2 haploinsufficiency is associated with congenital heart defects in mouse and man: Introducing the GO-CHD Study

Cited2 haploinsufficiency is associated with congenital heart defects in mouse and man: Introducing the GO-CHD Study

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Bentham, J, Bamforth, S, Braganca, J, Carballo, S, Michell, A, Bilski, M, Broadbent, C, Farthing, C, Franklyn, A, Schneider, J, Adwani, S, Devriendt, K, Keavney, B, Goodskip, J, Scambler, P, Watkins, H, Bhattacharya, S
Μορφή:	Conference item
Έκδοση:	2006

Παρόμοια τεκμήρια

Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.
ανά: MacDonald, S, κ.ά.
Έκδοση: (2008)

Mechanisms of cardiac pleiotropy in Cited2 deficiency
ανά: MacDonald, S, κ.ά.
Έκδοση: (2008)

A novel role for transcription factor Lmo4 in thymus development through genetic interaction with Cited2.
ανά: Michell, A, κ.ά.
Έκδοση: (2010)

Intraembryonic Cited2 is necessary for normal cardiac development and left-right patterning
ανά: MacDonald, S, κ.ά.
Έκδοση: (2006)

Cardiac-specific deletion of Cited2 reveals a cell autonomous role in positively regulating vegfa expression in the developing heart
ανά: MacDonald, S, κ.ά.
Έκδοση: (2007)

Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway.
ανά: Bamforth, S, κ.ά.
Έκδοση: (2004)

Functional significance of SRJ domain mutations in CITED2
ανά: Chen, C, κ.ά.
Έκδοση: (2012)

Epiblastic Cited2 function explains pleiotropy and penetrance of cardiac malformation resulting from its deficiency
ανά: Macdonald, S, κ.ά.
Έκδοση: (2007)

A cell-autonomous role of Cited2 in controlling myocardial and coronary vascular development
ανά: Macdonald, S, κ.ά.
Έκδοση: (2012)

A CITED2-> VEGFA PATHWAY COUPLES MYOCARDIAL AND CORONARY VASCULAR GROWTH IN THE DEVELOPING MOUSE HEART
ανά: Bamforth, S, κ.ά.
Έκδοση: (2011)

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
ανά: Bolze, A, κ.ά.
Έκδοση: (2013)

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
ανά: Bolze, A, κ.ά.
Έκδοση: (2013)

Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2.
ανά: Bragança, J, κ.ά.
Έκδοση: (2003)

Transcriptional coactivator Cited2 induces Bmi1 and Mel18 and controls fibroblast proliferation via Ink4a/ARF.
ανά: Kranc, K, κ.ά.
Έκδοση: (2003)

Why haploinsufficiency persists
ανά: Morrill, Summer A., κ.ά.
Έκδοση: (2020)

Evidence for haploinsufficiency as the mechanism of action of MyBP-C mutations that cause HCM
ανά: Carballo, S, κ.ά.
Έκδοση: (2008)

Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator.
ανά: Bamforth, S, κ.ά.
Έκδοση: (2001)

Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left-right patterning defects.
ανά: Bentham, J, κ.ά.
Έκδοση: (2010)

Cloning of mouse Cited4, a member of the CITED family p300/CBP-binding transcriptional coactivators: induced expression in mammary epithelial cells.
ανά: Yahata, T, κ.ά.
Έκδοση: (2002)

Human CREB-binding protein/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2.
ανά: Bragança, J, κ.ά.
Έκδοση: (2002)

BRACHYDACTYLY AND MENTAL-RETARDATION - A NEW HAPLOINSUFFICIENCY SYNDROME
ανά: Wilson, L, κ.ά.
Έκδοση: (1995)

The importance of reducing SFA to limit CHD
ανά: Pedersen, J, κ.ά.
Έκδοση: (2011)

The importance of reducing SFA to limit CHD.
ανά: Pedersen, J, κ.ά.
Έκδοση: (2011)

The persistence of haploinsufficiency and its role in genome evolution
ανά: Morrill, Summer Ashlee.
Έκδοση: (2021)

PTEN Haploinsufficiency, Obesity, and Insulin Sensitivity REPLY
ανά: Gloyn, A, κ.ά.
Έκδοση: (2012)

Direct evidence in man for haploinsufficiency as the mechanism of action of myosin-binding protein C mutations that cause hypertrophic cardiomyopathy
ανά: Carballo, S, κ.ά.
Έκδοση: (2008)

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
ανά: Marston, S, κ.ά.
Έκδοση: (2009)

Efficient identification of mouse models of human congenital cardiopulmonary malformations using high-throughput magnetic resonance imaging
ανά: Schneider, J, κ.ά.
Έκδοση: (2004)

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to congenital heart disease
ανά: Palomino Doza, J, κ.ά.
Έκδοση: (2012)

CHD7 in CHARGE: the implications of neural crest specific regulation of chromatin remodeller CHD7 in CHARGE syndrome
ανά: Taylor, Ö
Έκδοση: (2018)

Citation classics from social indicators research : the most cited articles edited and introduced by Alex C. Michalos /
ανά: Michalos, Alex C.
Έκδοση: (2005)

Cited2 is an essential regulator of adult hematopoietic stem cells.
ανά: Kranc, K, κ.ά.
Έκδοση: (2009)

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
ανά: Afzali, B, κ.ά.
Έκδοση: (2017)

Criteria for CITES species protection.
ανά: Challender, D, κ.ά.
Έκδοση: (2019)

Haploinsufficiency of GAtA-2 effects adult stem cell homeostasis.
ανά: Rodrigues, N, κ.ά.
Έκδοση: (2003)

The Majority of Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy are Associated with Haploinsufficiency in the Myocardium and Epidermis
ανά: Rasmussen, T, κ.ά.
Έκδοση: (2012)

CHD1 assumes a central role during follicle development.
ανά: Papantonis, A, κ.ά.
Έκδοση: (2008)

No scientific support for linking dietary saturated fat to CHD Response
ανά: Pedersen, J, κ.ά.
Έκδοση: (2012)

No scientific support for linking dietary saturated fat to CHD Response
ανά: Pedersen, J, κ.ά.
Έκδοση: (2012)

The importance of reducing SFA intake to limit CHD risk Response
ανά: Pedersen, J, κ.ά.
Έκδοση: (2012)