Detalhe da pesquisa
1.
Estrogen-Related Receptor Agonism Reverses Mitochondrial Dysfunction and Inflammation in the Aging Kidney.
Am J Pathol
; 193(12): 1969-1987, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717940
2.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
; 104(6): 1127-1138, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155284
3.
Detection of early myocardial cell death in owl monkeys (Aotus nancymai) using complement component C9 immunohistochemistry in formalin-fixed paraffin-embedded heart tissues: A retrospective study.
J Med Primatol
; 51(2): 93-100, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971004
4.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Am J Hum Genet
; 103(6): 948-967, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526868
5.
Sickle cell disease mice have cerebral oxidative stress and vascular and white matter abnormalities.
Blood Cells Mol Dis
; 86: 102493, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32927249
6.
Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV.
Hum Mol Genet
; 26(14): 2701-2718, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28449103
7.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119818
8.
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV.
EMBO Rep
; 17(2): 266-78, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26682800
9.
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
J Med Genet
; 53(5): 318-29, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095636
10.
Kupffer cells modulate hepatic fatty acid oxidation during infection with PR8 influenza.
Biochim Biophys Acta
; 1852(11): 2391-401, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26319418
11.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Proc Natl Acad Sci U S A
; 110(33): 13552-7, 2013 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23898205
12.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
JCI Insight
; 9(4)2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271099
13.
Contributions of Diet and Age to Ulcerative Dermatitis in Female C57BL/6J Mice.
Comp Med
; 2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36882188
14.
CDK4-E2F3 signals enhance oxidative skeletal muscle fiber numbers and function to affect myogenesis and metabolism.
J Clin Invest
; 133(13)2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37395281
15.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
NPJ Genom Med
; 8(1): 4, 2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765070
16.
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Mol Genet Metab
; 107(4): 748-55, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122659
17.
Ultra-structural identification of interstitial cells of Cajal in the zebrafish Danio rerio.
Cell Tissue Res
; 349(2): 483-91, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22628160
18.
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.
Mol Ther
; 19(12): 2114-23, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21878905
19.
Identification of a novel HSP70-binding cochaperone critical to HSP90-mediated activation of small serine/threonine kinase.
J Biol Chem
; 285(45): 35180-7, 2010 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20829357
20.
A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome.
Nat Med
; 27(3): 536-545, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707773