Property Summary

NCBI Gene PubMed Count 18
Grant Count 71
R01 Count 24
Funding $17,976,659.31
PubMed Score 98.43
PubTator Score 20.80

Knowledge Summary

Patent

No data available

Synonym

Accession P27539 O43344 GDF-1
Symbols RAI
DORV
DTGA3

Gene

PANTHER Protein Class (2)

Gene RIF (10)

PMID Text
26656983 Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects.
24798330 This implies that Gdf1 potentiates Nodal activity by stabilizing a low molecular weight fraction that is susceptible to neutralization by soluble Acvr2.
24275554 indicate that the expression of growth/differentiation factor 1 (GDF1) is up-regulated in human dilated cardiomyopathy (DCM)hearts and murine hypertrophic hearts.
23076529 GDF1 may be associated with congenital heart defects risk, and these variations contribute at least in part to the development of some subtypes of conotruncal defects in the Chinese Han population.
20807224 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20413652 Molecular genetic basis of a kindred with 5 siblings with right atrial isomerism involved mutations in GDF1.
19359031 GDF1 expression is correlated with progression and aggressive behaviors in cervical cancer, suggesting a tumor-promoting role for GDF1 in the progression of this malignancy.
17924340 Heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries.

AA Sequence

MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRD      1 - 70
PQETRSGSRRTSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAE     71 - 140
RPSRARLELRFAAAAAAAPEGGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWP    141 - 210
RSLRLALALRPRAPAACARLAEASLLLVTLDPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVG    211 - 280
WHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVLRALMHAAAPGAADLPCCVPARLSPISVLFF    281 - 350
DNSDNVVLRQYEDMVVDECGCR                                                    351 - 372
//

Text Mined References (18)

PMID Year Title
26656983 2015 Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.
24798330 2014 Nodal·Gdf1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation.
24275554 2014 Growth/differentiation factor 1 alleviates pressure overload-induced cardiac hypertrophy and dysfunction.
23076529 2013 Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population.
20807224 2011 New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20413652 2010 Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).
19553149 Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
19359031 2009 Correlation of inhibitor of differentiation 1 expression to tumor progression, poor differentiation and aggressive behaviors in cervical carcinoma.
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