Detalhe da pesquisa
1.
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
PLoS Genet
; 14(3): e1007297, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590114
2.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Hum Mutat
; 40(1): 53-72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303587
3.
Human neonatal stem cell-derived skin substitute improves healing of severe burn wounds in a rat model.
Cell Biol Int
; 43(2): 147-157, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30443955
4.
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
J Med Genet
; 55(7): 479-488, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29572253
5.
Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.
Adv Exp Med Biol
; 1074: 219-228, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721947
6.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
PLoS Genet
; 11(3): e1005097, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25807530
7.
Transplantation of stromal-derived factor 1α and basic fibroblast growth factor primed insulin-producing cells reverses hyperglycaemia in diabetic rats.
Growth Factors
; 35(2-3): 88-99, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28835141
8.
Serum from CCl4-induced acute rat injury model induces differentiation of ADSCs towards hepatic cells and reduces liver fibrosis.
Growth Factors
; 35(4-5): 144-160, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29110545
9.
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Am J Hum Genet
; 94(1): 144-52, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387994
10.
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Hum Mutat
; 37(10): 991-1003, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375115
11.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet
; 92(4): 605-13, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23541340
12.
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Mol Vis
; 22: 797-815, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27440997
13.
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Mol Vis
; 22: 610-25, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27307693
14.
Adipose stem cells differentiated chondrocytes regenerate damaged cartilage in rat model of osteoarthritis.
Cell Biol Int
; 40(5): 579-88, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888708
15.
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.
PLoS Genet
; 9(9): e1003774, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24039609
16.
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
Hum Genet
; 134(4): 423-37, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25666562
17.
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
Mol Vis
; 21: 1261-71, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26628857
18.
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Mol Vis
; 21: 871-82, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26321862
19.
Diazoxide preconditioning of endothelial progenitor cells from streptozotocin-induced type 1 diabetic rats improves their ability to repair diabetic cardiomyopathy.
Mol Cell Biochem
; 410(1-2): 267-79, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26359087
20.
Diazoxide preconditioning of endothelial progenitor cells improves their ability to repair the infarcted myocardium.
Cell Biol Int
; 39(11): 1251-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26032287