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1.
Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.
Clin Genet
; 104(6): 625-636, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37525964
2.
Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation.
FASEB J
; 36(3): e22194, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35170814
3.
Up-Regulation of microRNA-424 Causes an Imbalance in AKT Phosphorylation and Impairs Enteric Neural Crest Cell Migration in Hirschsprung Disease.
Int J Mol Sci
; 24(7)2023 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37047673
4.
Contribution of ADD3 and the HLA Genes to Biliary Atresia Risk in Chinese.
Int J Mol Sci
; 24(19)2023 Sep 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37834180
5.
Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.
Pediatr Res
; 89(3): 694-700, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32380506
6.
MicroRNA-4516-mediated regulation of MAPK10 relies on 3' UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease.
J Med Genet
; 57(9): 634-642, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32066630
7.
CELF1/p53 axis: a sustained antiproliferative signal leading to villus atrophy under total parenteral nutrition.
FASEB J
; 33(3): 3378-3391, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30514107
8.
Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.
J Cell Mol Med
; 22(7): 3377-3387, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29654647
9.
CUGBP1 and HuR regulate E-cadherin translation by altering recruitment of E-cadherin mRNA to processing bodies and modulate epithelial barrier function.
Am J Physiol Cell Physiol
; 310(1): C54-65, 2016 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26491048
10.
Soybean Oil-Based Lipid Emulsion Increases Intestinal Permeability of Lipopolysaccharide in Caco-2 Cells by Downregulation of P-Glycoprotein via ERK-FOXO 3a Pathway.
Cell Physiol Biochem
; 39(4): 1581-94, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27627102
11.
Intestinal Reg4 deficiency confers susceptibility to high-fat diet-induced liver steatosis by increasing intestinal fat absorption in mice.
JHEP Rep
; 5(6): 100700, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37138677
12.
Association analysis and functional follow-up identified common variants of JAG1 accounting for risk to biliary atresia.
Front Genet
; 14: 1186882, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37255715
13.
Association Analysis of Variants of DSCAM and BACE2 With Hirschsprung Disease Susceptibility in Han Chinese and Functional Evaluation in Zebrafish.
Front Cell Dev Biol
; 9: 641152, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34136475
14.
Common variants of NRG1 and ITGB4 confer risk of Hirschsprung disease in Han Chinese population.
J Pediatr Surg
; 55(12): 2758-2765, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32418639
15.
Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease.
Aging (Albany NY)
; 12(5): 4379-4393, 2020 03 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32139661
16.
Association of Variants in PLD1, 3p24.1, and 10q11.21 Regions With Hirschsprung's Disease in Han Chinese Population.
Front Genet
; 11: 738, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32765588
17.
Association of common variation in ADD3 and GPC1 with biliary atresia susceptibility.
Aging (Albany NY)
; 12(8): 7163-7182, 2020 04 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-32315284
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