Literature DB >> 12137942

Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins.

Paul A Rupp1, Gameil T Fouad, Carley A Egelston, Carol A Reifsteck, Susan B Olson, Wendy M Knosp, Robert W Glanville, Kent L Thornburg, Susan W Robinson, Cheryl L Maslen.   

Abstract

We have isolated and characterized a unique gene that encodes a highly conserved membrane bound extracellular protein that defines a new epidermal growth factor-related gene family. The CRELD1 (Cysteine-Rich with EGF-Like Domains 1) gene (previously known as cirrin) was cloned from a human chromosome 3 BAC. Mapping of the gene confirmed its position at chromosome 3p25.3. The gene is ubiquitously expressed in early development and later becomes more markedly expressed in the developing heart, limb buds, mandible and central nervous system. Expression persists in adulthood in most tissues. Sequence analysis suggests that this is a cell adhesion protein. The mouse orthologue was cloned and mapped to the syntenic region of mouse chromosome 6. Orthologues or homologues have also been identified for cow, Chinese hamster, Drosophila and Caenorhabditis elegans. The CRELD1 gene is deleted in the human cytogenetic disorder 3p- syndrome and is in the region of loss of heterozygosity for several types of cancer. A potential role for this protein in these disorders is discussed.

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Year:  2002        PMID: 12137942     DOI: 10.1016/s0378-1119(02)00696-0

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  19 in total

1.  Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Authors:  Susan W Robinson; Cynthia D Morris; Elizabeth Goldmuntz; Mark D Reller; Melanie A Jones; Robert D Steiner; Cheryl L Maslen
Journal:  Am J Hum Genet       Date:  2003-03-11       Impact factor: 11.025

Review 2.  Echocardiography in children with Down syndrome.

Authors:  Mohammed A Al-Biltagi
Journal:  World J Clin Pediatr       Date:  2013-11-08

3.  Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

Authors:  Samaneh Zhian; John Belmont; Cheryl L Maslen
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

4.  The matricellular protein CCN1 is essential for cardiac development.

Authors:  Fan-E Mo; Lester F Lau
Journal:  Circ Res       Date:  2006-10-05       Impact factor: 17.367

Review 5.  The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion.

Authors:  Laura E Briggs; Jayant Kakarla; Andy Wessels
Journal:  Differentiation       Date:  2012-06-17       Impact factor: 3.880

6.  Novel CRELD1 gene mutations in patients with atrioventricular septal defect.

Authors:  Ying Guo; Jie Shen; Lang Yuan; Fen Li; Jian Wang; Kun Sun
Journal:  World J Pediatr       Date:  2010-11-16       Impact factor: 2.764

7.  Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population.

Authors:  Huiqing Li; Sheila Cherry; Donna Klinedinst; Valerie DeLeon; Jennifer Redig; Benjamin Reshey; Michael T Chin; Stephanie L Sherman; Cheryl L Maslen; Roger H Reeves
Journal:  Circ Cardiovasc Genet       Date:  2012-04-20

8.  Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Authors:  Ozanna Burnicka-Turek; Jeffrey D Steimle; Wenhui Huang; Lindsay Felker; Anna Kamp; Junghun Kweon; Michael Peterson; Roger H Reeves; Cheryl L Maslen; Peter J Gruber; Xinan H Yang; Jay Shendure; Ivan P Moskowitz
Journal:  Hum Mol Genet       Date:  2016-06-23       Impact factor: 6.150

9.  Penetrance of Congenital Heart Disease in a Mouse Model of Down Syndrome Depends on a Trisomic Potentiator of a Disomic Modifier.

Authors:  Huiqing Li; Sarah Edie; Donna Klinedinst; Jun Seop Jeong; Seth Blackshaw; Cheryl L Maslen; Roger H Reeves
Journal:  Genetics       Date:  2016-03-30       Impact factor: 4.562

10.  Transcriptome analysis of mammary epithelial subpopulations identifies novel determinants of lineage commitment and cell fate.

Authors:  Howard Kendrick; Joseph L Regan; Fiona-Ann Magnay; Anita Grigoriadis; Costas Mitsopoulos; Marketa Zvelebil; Matthew J Smalley
Journal:  BMC Genomics       Date:  2008-12-08       Impact factor: 3.969

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