Detalhe da pesquisa
1.
Genetic Deficiency of the Long Pentraxin 3 Affects Osteogenesis and Osteoclastogenesis in Homeostatic and Inflammatory Conditions.
Int J Mol Sci
; 24(23)2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38068970
2.
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells.
Stem Cells
; 37(7): 876-887, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895693
3.
3D Bone Biomimetic Scaffolds for Basic and Translational Studies with Mesenchymal Stem Cells.
Int J Mol Sci
; 19(10)2018 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322134
4.
Interleukin-1ß Polymorphisms Are Genetic Markers of Susceptibility to Periprosthetic Joint Infection in Total Hip and Knee Arthroplasty.
Genes (Basel)
; 15(5)2024 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790226
5.
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.
Sci Transl Med
; 16(733): eadh8162, 2024 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38324638
6.
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Bone
; 153: 116152, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400385
7.
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
J Bone Miner Res
; 36(3): 531-545, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33125761
8.
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.
Bone
; 140: 115571, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32768688
9.
Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders.
Mol Ther Methods Clin Dev
; 17: 369-377, 2020 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099849
10.
Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis.
Bone Rep
; 12: 100242, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31938717
11.
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss.
J Bone Miner Res
; 34(11): 2133-2148, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31295380
12.
Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts.
Stem Cell Reports
; 5(4): 558-68, 2015 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26344905
13.
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
J Bone Miner Res
; 30(10): 1814-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25829125
14.
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
J Bone Miner Res
; 27(2): 342-51, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22271396
15.
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome.
J Exp Med
; 207(7): 1525-40, 2010 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20547828