Detalhe da pesquisa
1.
Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta.
J Physiol
; 601(2): 355-379, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36285717
2.
Noncanonical ER-Golgi trafficking and autophagy of endogenous procollagen in osteoblasts.
Cell Mol Life Sci
; 78(24): 8283-8300, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34779895
3.
Noncanonical autophagy at ER exit sites regulates procollagen turnover.
Proc Natl Acad Sci U S A
; 115(43): E10099-E10108, 2018 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287488
4.
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.
Hum Mol Genet
; 26(15): 2897-2911, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475764
5.
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
6.
Endoplasmic reticulum stress is induced in growth plate hypertrophic chondrocytes in G610C mouse model of osteogenesis imperfecta.
Biochem Biophys Res Commun
; 509(1): 235-240, 2019 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579604
7.
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
8.
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
9.
Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice.
Hum Mol Genet
; 24(21): 6080-92, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246497
10.
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
11.
Mutations in WNT1 cause different forms of bone fragility.
Am J Hum Genet
; 92(4): 565-74, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499309
12.
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
13.
Pulse-chase analysis of procollagen biosynthesis by azidohomoalanine labeling.
Connect Tissue Res
; 55(5-6): 403-10, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159826
14.
RNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta.
J Bone Miner Res
; 39(2): 177-189, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477760
15.
Tendon-associated gene expression precedes osteogenesis in mid-palatal suture establishment.
bioRxiv
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798531
16.
Helical structure determines different susceptibilities of dsDNA, dsRNA, and tsDNA to counterion-induced condensation.
Biophys J
; 104(9): 2031-41, 2013 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23663846
17.
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
18.
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
19.
Collagen degradation by tumor-associated trypsins.
Arch Biochem Biophys
; 535(2): 111-4, 2013 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23541862
20.
Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone.
Proc Natl Acad Sci U S A
; 107(19): 8683-8, 2010 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20421483