Detalhe da pesquisa
1.
Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.
Cell Tissue Res
; 364(3): 637-646, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26711913
2.
A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.
J Biol Chem
; 289(15): 10293-10307, 2014 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24563484
3.
COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.
J Biol Chem
; 288(20): 14320-14331, 2013 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23564457
4.
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
J Biol Chem
; 285(13): 10005-10015, 2010 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20106987
5.
Alternative splicing of transcripts for the alpha 3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7-N10 in mouse and human.
Matrix Biol
; 21(3): 227-41, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12009329
6.
Prominent expression of lysyl oxidase during mouse embryonic cardiovascular development.
Anat Rec A Discov Mol Cell Evol Biol
; 270(2): 93-6, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12524683
7.
Tumor-specific expression and alternative splicing of the COL6A3 gene in pancreatic cancer.
Surgery
; 150(2): 306-15, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21719059
8.
Fibulin-2 is dispensable for mouse development and elastic fiber formation.
Mol Cell Biol
; 28(3): 1061-7, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18070922
9.
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
Ann Neurol
; 59(1): 190-5, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16278855
10.
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
Hum Genet
; 117(5): 460-6, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16075202
11.
Zinc finger protein Zac1 is expressed in chondrogenic sites of the mouse.
Dev Dyn
; 229(2): 340-8, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14745959
12.
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
Am J Hum Genet
; 73(2): 355-69, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12840783
13.
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.
J Biol Chem
; 277(46): 43557-64, 2002 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12218063