Detalhe da pesquisa
1.
The Regulatory Factor ZFHX3 Modifies Circadian Function in SCN via an AT Motif-Driven Axis.
Cell
; 162(3): 607-21, 2015 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-26232227
2.
Helios is a key transcriptional regulator of outer hair cell maturation.
Nature
; 563(7733): 696-700, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464345
3.
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Hum Mol Genet
; 25(2): 291-307, 2016 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26604141
4.
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
Front Mol Biosci
; 10: 1279700, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38161385
5.
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
EMBO Mol Med
; 11(9): e10288, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448880
6.
An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.
JBMR Plus
; 2(3): 154-163, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283900
7.
Islet amyloid polypeptide gene promoter polymorphisms are not associated with Type 2 diabetes or with the severity of islet amyloidosis.
Biochim Biophys Acta
; 1740(1): 74-8, 2005 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15878744
8.
Haploinsufficiency of the Insulin Receptor in the Presence of a Splice-Site Mutation in Ppp2r2a Results in a Novel Digenic Mouse Model of Type 2 Diabetes.
Diabetes
; 65(5): 1434-46, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26868295
9.
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.
PLoS One
; 11(12): e0167916, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27959934
10.
N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.
PLoS One
; 10(4): e0122650, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25860694
11.
An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess.
Endocrinology
; 155(3): 908-22, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302625
12.
GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.
Horm Cancer
; 4(3): 123-39, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23435732
13.
Bone Mineral Content and Density.
Curr Protoc Mouse Biol
; 2(4): 365-400, 2012 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26069020
14.
A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation.
PLoS One
; 7(9): e45217, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23024809
15.
Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging.
J Bone Miner Res
; 27(4): 876-90, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22161748
16.
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
PLoS One
; 7(8): e43205, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22912827
17.
A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation.
J Bone Miner Res
; 27(2): 413-28, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22028304
18.
Glycosylation defects and muscular dystrophy.
Adv Exp Med Biol
; 564: 97-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16400811
19.
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Hum Mol Genet
; 16(3): 327-42, 2007 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200151
20.
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Muscle Nerve
; 36(4): 455-65, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17554798