Detalhe da pesquisa
1.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
2.
Bitter taste receptor T2R14 detects quorum sensing molecules from cariogenic Streptococcus mutans and mediates innate immune responses in gingival epithelial cells.
FASEB J
; 35(3): e21375, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559200
3.
Generation of prolactin-inducible protein (Pip) knockout mice by CRISPR/Cas9-mediated gene engineering.
Can J Physiol Pharmacol
; 100(1): 86-91, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379992
4.
SPAM1/HYAL5 double deficiency in male mice leads to severe male subfertility caused by a cumulus-oocyte complex penetration defect.
FASEB J
; 33(12): 14440-14449, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31670981
5.
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
PLoS Genet
; 13(1): e1006470, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081210
6.
Increase of a group of PTC(+) transcripts by curcumin through inhibition of the NMD pathway.
Biochim Biophys Acta
; 1849(8): 1104-15, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25934542
7.
Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression.
Biochim Biophys Acta
; 1852(5): 1029-37, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25708872
8.
Hyaluronidase 2 (HYAL2) is expressed in endothelial cells, as well as some specialized epithelial cells, and is required for normal hyaluronan catabolism.
Histochem Cell Biol
; 145(1): 53-66, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26515055
9.
Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates.
Mol Ther
; 23(3): 414-22, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25515709
10.
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
Am J Hum Genet
; 90(6): 1088-93, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22578326
11.
Murine hyaluronidase 2 deficiency results in extracellular hyaluronan accumulation and severe cardiopulmonary dysfunction.
J Biol Chem
; 288(1): 520-8, 2013 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23172227
12.
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
JCI Insight
; 9(6)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516887
13.
Hyaluronidase 1 and ß-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.
J Biol Chem
; 287(20): 16689-97, 2012 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451654
14.
Hyal-1 but not Hyal-3 deficiency has an impact on ovarian folliculogenesis and female fertility by altering the follistatin/activin/Smad3 pathway and the apoptotic process.
J Cell Physiol
; 227(5): 1911-22, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21732362
15.
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Am J Hum Genet
; 84(6): 728-39, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19463982
16.
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
Biochem Biophys Res Commun
; 426(2): 286-8, 2012 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22943850
17.
Increased phosphorylation of HexM improves lysosomal uptake and potential for managing GM2 gangliosidoses.
BBA Adv
; 2: 100032, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37082581
18.
A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis.
J Inherit Metab Dis
; 34(5): 1013-22, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21559944
19.
EMG1 is essential for mouse pre-implantation embryo development.
BMC Dev Biol
; 10: 99, 2010 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858271
20.
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
Hum Mol Genet
; 17(13): 1904-15, 2008 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18344557