Identification and functional analysis of CITED2 mutations in patients with congenital heart defects (Q24294854)

GOA release 2020-03-11

heart development

1 reference

GOA release 2020-03-11

author

Hans Lehrach

8

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Christina Grimm

object named as

Christina H Grimm

2

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Felix Berger

object named as

Felix Berger

10

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author name string

Silke Sperling

1

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Ilona Dunkel

3

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Siegrun Mebus

4

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Hans-Peter Sperling

5

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Arno Ebner

6

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Raffaello Galli

7

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Christoph Fusch

9

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Stefanie Hammer

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

11

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language of work or name

English

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publication date

December 2005

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published in

Human Mutation

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volume

26

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page(s)

575-82

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issue

6

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cites work

1 reference

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Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator

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Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway

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Haploview: analysis and visualization of LD and haplotype maps

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Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

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Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1

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7 January 2021

Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2

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Mutation in myosin heavy chain 6 causes atrial septal defect

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Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

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Structural basis for negative regulation of hypoxia-inducible factor-1alpha by CITED2

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The structure of haplotype blocks in the human genome

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GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

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Regulation of hypoxia-inducible factor 1alpha is mediated by an O2-dependent degradation domain via the ubiquitin-proteasome pathway

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Genome-wide array analysis of normal and malformed human hearts.

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Molecular cloning and chromosomal localization of the human CITED2 gene encoding p35srj/Mrg1.

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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

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High-throughput SNP genotyping by allele-specific PCR with universal energy-transfer-labeled primers

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A decade of discoveries in cardiac biology

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

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7 January 2021

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

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TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

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Refinement of single-nucleotide polymorphism genotyping methods on human genomic DNA: amplifluor allele-specific polymerase chain reaction versus ligation detection reaction-TaqMan.

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Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease

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Congenital heart disease caused by mutations in the transcription factor NKX2-5

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d-matrix - database exploration, visualization and analysis

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Molecular pathways in myocardial development: a stem cell perspective.

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Genetic assembly of the heart: implications for congenital heart disease

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7 January 2021

Evaluation of the Cited2 gene and risk for spina bifida and congenital heart defects

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7 January 2021

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

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7 January 2021

Cited2 is required both for heart morphogenesis and establishment of the left-right axis in mouse development

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7 January 2021

The essential role of Cited2, a negative regulator for HIF-1alpha, in heart development and neurulation

1 reference

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7 January 2021