Detalhe da pesquisa
1.
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities.
J Med Genet
; 60(11): 1067-1075, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197785
2.
Cyclophilin B control of lysine post-translational modifications of skin type I collagen.
PLoS Genet
; 15(6): e1008196, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173582
3.
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Hum Mol Genet
; 26(12): 2207-2217, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28419360
4.
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
EMBO J
; 34(22): 2820-39, 2015 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26438723
5.
Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen.
Genet Med
; 21(5): 1233-1239, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270360
6.
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
PLoS Genet
; 12(7): e1006156, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27441836
7.
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
Am J Hum Genet
; 97(4): 521-34, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365339
8.
PrP-containing aggresomes are cytosolic components of an ER quality control mechanism.
J Cell Sci
; 129(19): 3635-3647, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27550517
9.
4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion.
Biochim Biophys Acta Mol Basis Dis
; 1864(5 Pt A): 1642-1652, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432813
10.
Cyclophilin B Deficiency Causes Abnormal Dentin Collagen Matrix.
J Proteome Res
; 16(8): 2914-2923, 2017 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28696707
11.
Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen.
J Biol Chem
; 291(18): 9501-12, 2016 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934917
12.
Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.
Hum Mol Genet
; 24(21): 6118-33, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264579
13.
Osteogenesis imperfecta.
Lancet
; 387(10028): 1657-71, 2016 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542481
14.
Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.
PLoS Genet
; 10(6): e1004465, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24968150
15.
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Nat Genet
; 39(3): 359-65, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17277775
16.
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
Hum Mol Genet
; 21(16): 3535-45, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589248
17.
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
Curr Opin Pediatr
; 26(4): 500-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25007323
18.
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
Hum Mutat
; 34(9): 1279-88, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23712425
19.
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
N Engl J Med
; 362(6): 521-8, 2010 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20089953
20.
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy.
Stem Cells
; 30(7): 1465-76, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22511244