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

Bibliográfalaš dieđut
Váldodahkkit:	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
Materiálatiipa:	Conference item
Almmustuhtton:	2006

Geahča maid

Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.
Dahkki: MacDonald, S, et al.
Almmustuhtton: (2008)

Mechanisms of cardiac pleiotropy in Cited2 deficiency
Dahkki: MacDonald, S, et al.
Almmustuhtton: (2008)

A novel role for transcription factor Lmo4 in thymus development through genetic interaction with Cited2.
Dahkki: Michell, A, et al.
Almmustuhtton: (2010)

Intraembryonic Cited2 is necessary for normal cardiac development and left-right patterning
Dahkki: MacDonald, S, et al.
Almmustuhtton: (2006)

Cardiac-specific deletion of Cited2 reveals a cell autonomous role in positively regulating vegfa expression in the developing heart
Dahkki: MacDonald, S, et al.
Almmustuhtton: (2007)

Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway.
Dahkki: Bamforth, S, et al.
Almmustuhtton: (2004)

Functional significance of SRJ domain mutations in CITED2
Dahkki: Chen, C, et al.
Almmustuhtton: (2012)

Epiblastic Cited2 function explains pleiotropy and penetrance of cardiac malformation resulting from its deficiency
Dahkki: Macdonald, S, et al.
Almmustuhtton: (2007)

A cell-autonomous role of Cited2 in controlling myocardial and coronary vascular development
Dahkki: Macdonald, S, et al.
Almmustuhtton: (2012)

A CITED2-> VEGFA PATHWAY COUPLES MYOCARDIAL AND CORONARY VASCULAR GROWTH IN THE DEVELOPING MOUSE HEART
Dahkki: Bamforth, S, et al.
Almmustuhtton: (2011)

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia
Dahkki: Bolze, A, et al.
Almmustuhtton: (2013)

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Dahkki: Bolze, A, et al.
Almmustuhtton: (2013)

Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2.
Dahkki: Bragança, J, et al.
Almmustuhtton: (2003)

Transcriptional coactivator Cited2 induces Bmi1 and Mel18 and controls fibroblast proliferation via Ink4a/ARF.
Dahkki: Kranc, K, et al.
Almmustuhtton: (2003)

Why haploinsufficiency persists
Dahkki: Morrill, Summer A., et al.
Almmustuhtton: (2020)

Evidence for haploinsufficiency as the mechanism of action of MyBP-C mutations that cause HCM
Dahkki: Carballo, S, et al.
Almmustuhtton: (2008)

Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator.
Dahkki: Bamforth, S, et al.
Almmustuhtton: (2001)

Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left-right patterning defects.
Dahkki: Bentham, J, et al.
Almmustuhtton: (2010)

Cloning of mouse Cited4, a member of the CITED family p300/CBP-binding transcriptional coactivators: induced expression in mammary epithelial cells.
Dahkki: Yahata, T, et al.
Almmustuhtton: (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.
Dahkki: Bragança, J, et al.
Almmustuhtton: (2002)

BRACHYDACTYLY AND MENTAL-RETARDATION - A NEW HAPLOINSUFFICIENCY SYNDROME
Dahkki: Wilson, L, et al.
Almmustuhtton: (1995)

The importance of reducing SFA to limit CHD
Dahkki: Pedersen, J, et al.
Almmustuhtton: (2011)

The importance of reducing SFA to limit CHD.
Dahkki: Pedersen, J, et al.
Almmustuhtton: (2011)

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

PTEN Haploinsufficiency, Obesity, and Insulin Sensitivity REPLY
Dahkki: Gloyn, A, et al.
Almmustuhtton: (2012)

Direct evidence in man for haploinsufficiency as the mechanism of action of myosin-binding protein C mutations that cause hypertrophic cardiomyopathy
Dahkki: Carballo, S, et al.
Almmustuhtton: (2008)

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.
Dahkki: Marston, S, et al.
Almmustuhtton: (2009)

Efficient identification of mouse models of human congenital cardiopulmonary malformations using high-throughput magnetic resonance imaging
Dahkki: Schneider, J, et al.
Almmustuhtton: (2004)

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to congenital heart disease
Dahkki: Palomino Doza, J, et al.
Almmustuhtton: (2012)

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

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

Cited2 is an essential regulator of adult hematopoietic stem cells.
Dahkki: Kranc, K, et al.
Almmustuhtton: (2009)

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency
Dahkki: Afzali, B, et al.
Almmustuhtton: (2017)

Criteria for CITES species protection.
Dahkki: Challender, D, et al.
Almmustuhtton: (2019)

Haploinsufficiency of GAtA-2 effects adult stem cell homeostasis.
Dahkki: Rodrigues, N, et al.
Almmustuhtton: (2003)

The Majority of Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy are Associated with Haploinsufficiency in the Myocardium and Epidermis
Dahkki: Rasmussen, T, et al.
Almmustuhtton: (2012)

CHD1 assumes a central role during follicle development.
Dahkki: Papantonis, A, et al.
Almmustuhtton: (2008)

No scientific support for linking dietary saturated fat to CHD Response
Dahkki: Pedersen, J, et al.
Almmustuhtton: (2012)

No scientific support for linking dietary saturated fat to CHD Response
Dahkki: Pedersen, J, et al.
Almmustuhtton: (2012)

The importance of reducing SFA intake to limit CHD risk Response
Dahkki: Pedersen, J, et al.
Almmustuhtton: (2012)