Detalhe da pesquisa
1.
Loss of Dis3l2 partially phenocopies Perlman syndrome in mice and results in up-regulation of Igf2 in nephron progenitor cells.
Genes Dev
; 32(13-14): 903-908, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29950491
2.
MiR-124 synergism with ELAVL3 enhances target gene expression to promote neuronal maturity.
Proc Natl Acad Sci U S A
; 118(22)2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031238
3.
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
BMC Med Genet
; 20(1): 43, 2019 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894143
4.
A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.
BMC Med Genet
; 15: 34, 2014 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25008054
5.
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Proc Natl Acad Sci U S A
; 107(23): 10602-7, 2010 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20498079
6.
Reduced arsenic clearance and increased toxicity in aquaglyceroporin-9-null mice.
Proc Natl Acad Sci U S A
; 106(37): 15956-60, 2009 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19805235
7.
Deconstructing Stepwise Fate Conversion of Human Fibroblasts to Neurons by MicroRNAs.
Cell Stem Cell
; 28(1): 127-140.e9, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32961143
8.
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.
Hum Mutat
; 31(11): 1261-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20848555
9.
Osteoclast differentiation and function in aquaglyceroporin AQP9-null mice.
Biol Cell
; 101(3): 133-40, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18666888
10.
Evaluation of Tung et al.: Mir-17â¼92 Confers Differential Vulnerability of Motor Neuron Subtypes to ALS-Associated Degeneration.
Cell Stem Cell
; 25(2): 165-166, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31374193
11.
Erratum: Publisher Correction: Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.
Nat Commun
; 8: 16177, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-31305780
12.
[Expression of feedback-resistant aspartate kinase gene in Corynebacterium crenatum].
Wei Sheng Wu Xue Bao
; 45(4): 530-3, 2005 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-16245864
13.
MicroRNA-based conversion of human fibroblasts into striatal medium spiny neurons.
Nat Protoc
; 10(10): 1543-55, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26379228
14.
Profiling of miRNA expression in immune thrombocytopenia patients before and after Qishunbaolier (QSBLE) treatment.
Biomed Pharmacother
; 75: 196-204, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297543
15.
[Cloming, sequence analysis of imidase gene from Alcaligenes eatrophus and its expression in E. coli].
Wei Sheng Wu Xue Bao
; 42(2): 153-62, 2002 Apr.
Artigo
em Zh
| MEDLINE | ID: mdl-12557390
16.
[Cloning and sequence analysis of aspartokinase genes from Corynebacterium crenatum].
Wei Sheng Wu Xue Bao
; 42(4): 395-9, 2002 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-12557542
17.
[A dicarboxylate monoamide amidohydrolase (half-amidase) from Alcaligenes eutrophus 112R4].
Wei Sheng Wu Xue Bao
; 43(1): 87-93, 2003 Feb.
Artigo
em Zh
| MEDLINE | ID: mdl-16276876
18.
Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.
Nat Commun
; 2: 4802, 2014 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25190313
19.
[Identification of mutation in PAX9 gene in a Mongolian family with non-syndromic oligodontia].
Zhonghua Kou Qiang Yi Xue Za Zhi
; 48(8): 490-3, 2013 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-24238416
20.
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
J Clin Invest
; 120(3): 791-802, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179356