Detalhe da pesquisa
1.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
2.
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Genome Res
; 25(7): 948-57, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25917818
3.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
J Hum Genet
; 63(12): 1211-1222, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250212
4.
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.
Exp Mol Pathol
; 98(2): 164-72, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25659760
5.
Contrasting alterations to synaptic and intrinsic properties in upper-cervical superficial dorsal horn neurons following acute neck muscle inflammation.
Mol Pain
; 10: 25, 2014 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24725960
6.
Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP.
Nat Genet
; 37(9): 974-9, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16116427
7.
RREB1 regulates neuronal proteostasis and the microtubule network.
Sci Adv
; 10(2): eadh3929, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198538
8.
An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.
G3 (Bethesda)
; 13(8)2023 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37300435
9.
The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia.
Blood
; 115(6): 1267-76, 2010 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-19846887
10.
Witch Nails (Krt90whnl): A spontaneous mouse mutation affecting nail growth and development.
PLoS One
; 17(11): e0277284, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36374931
11.
A novel null allele of mouse DSCAM survives to adulthood on an inbred C3H background with reduced phenotypic variability.
Genesis
; 48(10): 578-84, 2010 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20715164
12.
Integrated analysis of the molecular pathogenesis of FDXR-associated disease.
Cell Death Dis
; 11(6): 423, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499495
13.
Notch signalling in the paraxial mesoderm is most sensitive to reduced Pofut1 levels during early mouse development.
BMC Dev Biol
; 9: 6, 2009 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19161597
14.
Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass.
BMC Dev Biol
; 9: 27, 2009 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-19379485
15.
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
Mamm Genome
; 20(8): 462-75, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19669234
16.
Barriers and facilitators to smoking cessation within pregnant Aboriginal and/or Torres Strait Islander women: An integrative review.
Midwifery
; 73: 49-61, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30878900
17.
Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
PLoS One
; 11(12): e0168159, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27959908
18.
The netrin 1 receptors Unc5h3 and Dcc are necessary at multiple choice points for the guidance of corticospinal tract axons.
J Neurosci
; 22(23): 10346-56, 2002 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12451134
19.
Fine Mapping of a Deafness Mutation hml on Mouse Chromosome 10.
Acad J Xian Jiaotong Univ
; 25(3): 209-212, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21179397
20.
Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene.
J Assoc Res Otolaryngol
; 15(1): 45-55, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24297261