Detalhe da pesquisa
1.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Nature
; 628(8009): 844-853, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570685
2.
Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.
Proc Natl Acad Sci U S A
; 110(38): E3622-30, 2013 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24003133
3.
Recessive TMOD1 mutation causes childhood cardiomyopathy.
Commun Biol
; 7(1): 7, 2024 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168645
4.
Gimap3 regulates tissue-specific mitochondrial DNA segregation.
PLoS Genet
; 6(10): e1001161, 2010 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976251
5.
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
Pediatr Res
; 72(4): 432-7, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22797137
6.
Author Correction: TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.
Nat Commun
; 11(1): 2387, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32385292
7.
TFPa/HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes.
Nat Commun
; 10(1): 4671, 2019 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604922
8.
USF1 deficiency activates brown adipose tissue and improves cardiometabolic health.
Sci Transl Med
; 8(323): 323ra13, 2016 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26819196
9.
Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblasts.
Stem Cells Dev
; 22(1): 114-23, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22671711
10.
Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
Neurobiol Dis
; 18(1): 226-41, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15649713
11.
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Hum Mol Genet
; 13(23): 2893-906, 2004 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15459177
12.
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
Am J Hum Genet
; 71(3): 656-62, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12080485