Detalhe da pesquisa
1.
KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13.
Proc Natl Acad Sci U S A
; 121(12): e2315707121, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38489388
2.
A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.
Hum Mol Genet
; 32(5): 720-731, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048850
3.
A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.
Hum Mol Genet
; 32(10): 1722-1729, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36694982
4.
UBR5 Acts as an Antiviral Host Factor against MERS-CoV via Promoting Ubiquitination and Degradation of ORF4b.
J Virol
; 96(17): e0074122, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980206
5.
GSN gene frameshift mutations in Alzheimer's disease.
J Neurol Neurosurg Psychiatry
; 94(6): 436-447, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36650038
6.
RNF216 regulates meiosis and PKA stability in the testes.
FASEB J
; 35(4): e21460, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33724554
7.
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.
J Med Genet
; 58(1): 66-72, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32389901
8.
Necdin regulates BMAL1 stability and circadian clock through SGT1-HSP90 chaperone machinery.
Nucleic Acids Res
; 48(14): 7944-7957, 2020 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32667666
9.
FERONIA is involved in phototropin 1-mediated blue light phototropic growth in Arabidopsis.
J Integr Plant Biol
; 64(10): 1901-1915, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35924740
10.
[Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism].
Zhonghua Nei Ke Za Zhi
; 61(8): 933-936, 2022 Aug 01.
Artigo
em Zh
| MEDLINE | ID: mdl-35922219
11.
ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism. / ä¸å½å 天æ§ä½ä¿æ§è ºæ¿ç´ æ§æ§è ºåè½åéçæ£è ANOS1ççªå.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 47(7): 847-857, 2022 Jul 28.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-36039580
12.
Coding mutations in NUS1 contribute to Parkinson's disease.
Proc Natl Acad Sci U S A
; 115(45): 11567-11572, 2018 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30348779
13.
Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
Eur Arch Otorhinolaryngol
; 278(8): 2807-2815, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32940795
14.
RORα Suppresses Cancer-Associated Inflammation by Repressing Respiratory Complex I-Dependent ROS Generation.
Int J Mol Sci
; 22(19)2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34639006
15.
Exploring the potential of utilizing unsupervised machine learning for urban drainage sensor placement under future rainfall uncertainty.
J Environ Manage
; 296: 113191, 2021 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34246904
16.
Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.
Clin Genet
; 97(5): 696-703, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060892
17.
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling.
FASEB J
; 33(3): 4538-4546, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576231
18.
CirGRDB: a database for the genome-wide deciphering circadian genes and regulators.
Nucleic Acids Res
; 46(D1): D64-D70, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29059379
19.
Protein interactome of the deamidase phosphoribosylformylglycinamidine synthetase (PFAS) by LC-MS/MS.
Biochem Biophys Res Commun
; 513(3): 746-752, 2019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987822
20.
Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.
Genet Med
; 21(12): 2744-2754, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273342