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CRELD1 gene
Known as:
CIRRIN
, cysteine rich with EGF like domains 1
, CRELD1
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
C. Ackerman
,
A. Locke
,
+10 authors
C. Maslen
American Journal of Human Genetics
2012
Corpus ID: 13988248
Highly Cited
2012
Highly Cited
2012
Hyperactivity of the Ero1α Oxidase Elicits Endoplasmic Reticulum Stress but No Broad Antioxidant Response
H. Hansen
,
Jonas D. Schmidt
,
+7 authors
L. Ellgaard
Journal of Biological Chemistry
2012
Corpus ID: 34266376
Background: The oxidase activity of human Ero1α generates hydrogen peroxide in the ER. Results: Overexpression of a hyperactive…
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Highly Cited
2011
Highly Cited
2011
A pipeline that integrates the discovery and verification of plasma protein biomarkers reveals candidate markers for cardiovascular disease
T. Addona
,
Xu Shi
,
+11 authors
S. Carr
Nature Biotechnology
2011
Corpus ID: 7263152
We developed a pipeline to integrate the proteomic technologies used from the discovery to the verification stages of plasma…
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2011
2011
A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.
L. Kusuma
,
S. M. Dinesh
,
M. Savitha
,
B. Krishnamurthy
,
D. Narayanappa
,
N. Ramachandra
Genetic Testing and Molecular Biomarkers
2011
Corpus ID: 25275739
Cardiac malformations contribute greatly to cardiovascular disease in the young, constituting a major portion of clinically…
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2010
2010
Novel CRELD1 gene mutations in patients with atrioventricular septal defect
Ying Guo
,
Jie Shen
,
L. Yuan
,
Fen Li
,
Jian Wang
,
K. Sun
World Journal of Pediatrics
2010
Corpus ID: 29474678
BackgroundAtrioventricular septal defects (AVSDs) occur as clinical defects of several different syndromes, as autosomal dominant…
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Review
2008
Review
2008
Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
M. Posch
,
A. Perrot
,
+8 authors
F. Berger
American Journal of Medical Genetics. Part A
2008
Corpus ID: 45160357
Cardiac septal defects constitute the majority ofcongenitalheartdisease(CHD)inhumansandfamilialrecurrenceisreportedtoexceed5…
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Highly Cited
2007
Highly Cited
2007
microRNAs in adult rodent liver are refractory to dioxin treatment.
Ivy D. Moffat
,
P. Boutros
,
T. Celius
,
J. Lindén
,
R. Pohjanvirta
,
A. Okey
Toxicological Sciences
2007
Corpus ID: 21892614
Dioxin-like chemicals are well known for their ability to upregulate expression of numerous genes via the AH receptor (AHR…
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Highly Cited
2006
Highly Cited
2006
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
C. Maslen
,
D. Babcock
,
+4 authors
S. Sherman
American Journal of Medical Genetics. Part A
2006
Corpus ID: 18897685
Cheryl L. Maslen,* Darcie Babcock, Susan W. Robinson, Lora J.H. Bean, Kenneth J. Dooley, Virginia L. Willour, and Stephanie L…
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2005
2005
Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)
M. Zatyka
,
M. Priestley
,
+4 authors
E. Maher
Clinical Genetics
2005
Corpus ID: 31199574
The genetics of atrioventricular septal defect (AVSD) are complex. Most cases are sporadic though up to 20% are thought to have a…
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Highly Cited
2003
Highly Cited
2003
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
S. Robinson
,
C. Morris
,
+4 authors
C. Maslen
American Journal of Human Genetics
2003
Corpus ID: 42262151
Atrioventricular septal defects (AVSD) are common cardiovascular malformations, occurring in 3.5/10,000 births. Although…
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