Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association (Q85200798)

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scientific article published on 01 November 2010

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English	Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association	scientific article published on 01 November 2010

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20949626%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20949626%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

tetralogy of Fallot

1 reference

based on heuristic

inferred from title

haploinsufficiency

1 reference

based on heuristic

inferred from title

VACTERL association

1 reference

based on heuristic

inferred from title

author name string

Ankita Patel

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20949626%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Cammon B. Arrington

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20949626

3 August 2024

Carlos A. Bacino

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20949626

3 August 2024

Neil E. Bowles

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20949626

3 August 2024

language of work or name

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National Center for Biotechnology Information

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20949626

3 August 2024

publication date

1 November 2010

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Europe PubMed Central

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15 February 2020

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.33718

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.33718

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

American Journal of Medical Genetics

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Europe PubMed Central

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15 February 2020

152A

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15 February 2020

11

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Europe PubMed Central

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15 February 2020

2919-2923

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Europe PubMed Central

PubMed publication ID

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15 February 2020

Sonic hedgehog mutation analysis in patients with VACTERL association

1

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

2

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.

3

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

The spectrum of congenital anomalies of the VATER association: an international study.

4

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

An aetiological study of the VACTERL-association

5

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

VACTERL with the mitochondrial np 3243 point mutation

6

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

7

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Identification of a HOXD13 mutation in a VACTERL patient

8

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

NKX2.5 mutations in patients with tetralogy of fallot

9

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

LPP, a LIM protein highly expressed in smooth muscle

10

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

11

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

The LIM domain protein LPP is a coactivator for the ETS domain transcription factor PEA3.

12

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Whole population, genome-wide mapping of hidden relatedness

13

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Detection of large-scale variation in the human genome

14

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

15

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

The VACTERL association: lessons from the Sonic hedgehog pathway

16

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

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

17

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

18

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

19

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association

20

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

GATA4 sequence variants in patients with congenital heart disease

21

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Lpp is involved in Wnt/PCP signaling and acts together with Scrib to mediate convergence and extension movements during zebrafish gastrulation

22

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Targeted disruption of the mouse Lipoma Preferred Partner gene.

23

1 reference

10.1002/AJMG.A.33718

https://api.crossref.org/works/10.1002/AJMG.A.33718

3 August 2024

Identifiers

10.1002/AJMG.A.33718

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20949626%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20949626%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

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