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.
Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis.
Mol Genet Metab
; 137(1-2): 187-191, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088816
3.
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Respir Res
; 23(1): 112, 2022 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35509004
4.
Dysregulated myosin in Hermansky-Pudlak syndrome lung fibroblasts is associated with increased cell motility.
Respir Res
; 23(1): 167, 2022 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35739508
5.
Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung.
Respir Res
; 22(1): 49, 2021 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33557836
6.
Survivorship Issues in Adult Patients With Histiocytic Neoplasms.
J Natl Compr Canc Netw
; 19(11): 1312-1318, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34781266
7.
Hermansky-Pudlak syndrome: Mutation update.
Hum Mutat
; 41(3): 543-580, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898847
8.
Bleomycin Induces Drug Efflux in Lungs. A Pitfall for Pharmacological Studies of Pulmonary Fibrosis.
Am J Respir Cell Mol Biol
; 62(2): 178-190, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31419911
9.
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Am J Med Genet A
; 182(12): 3007-3013, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990340
10.
Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.
J Immunol
; 200(6): 2140-2153, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427412
11.
Genetic variants associated with Hermansky-Pudlak syndrome.
Platelets
; 31(4): 544-547, 2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436471
12.
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
J Med Genet
; 56(11): 778-782, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385646
13.
Danazol Treatment for Telomere Diseases.
N Engl J Med
; 374(20): 1922-31, 2016 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27192671
14.
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
Mol Genet Metab
; 125(1-2): 168-173, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055995
15.
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Am J Med Genet A
; 176(12): 2819-2823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30369044
16.
Extensive Citrullination Promotes Immunogenicity of HSP90 through Protein Unfolding and Exposure of Cryptic Epitopes.
J Immunol
; 197(5): 1926-36, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27448590
17.
A Mixed Blood-Lymphatic Endothelial Cell Phenotype in Lymphangioleiomyomatosis and Idiopathic Pulmonary Fibrosis but Not in Kaposi's Sarcoma or Tuberous Sclerosis Complex.
Am J Respir Cell Mol Biol
; 66(3): 337-340, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35102814
18.
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.
Br J Haematol
; 176(1): 118-123, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27766632
19.
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Mol Genet Metab
; 120(4): 378-383, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28259707
20.
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.
Am J Physiol Lung Cell Mol Physiol
; 310(6): L519-31, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26719147