Detalhe da pesquisa
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815585
2.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
; 110(11): 1919-1937, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827158
3.
The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.
Hum Mol Genet
; 32(6): 984-997, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36255738
4.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
5.
De novo variants in KCNJ3 are associated with early-onset epilepsy.
J Med Genet
; 61(4): 319-324, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963718
6.
Pancreas-directed AAV8-hSPINK1 gene therapy safely and effectively protects against pancreatitis in mice.
Gut
; 73(7): 1142-1155, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553043
7.
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.
Hum Mol Genet
; 31(16): 2751-2765, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348658
8.
Pancreatitis affects gut microbiota via metabolites and inflammatory cytokines: an exploratory two-step Mendelian randomisation study.
Mol Genet Genomics
; 299(1): 36, 2024 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38492113
9.
Ferritinophagy: A new idea for liver diseases regulated by ferroptosis.
Hepatobiliary Pancreat Dis Int
; 23(2): 160-170, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37903710
10.
Determining Whether an Individual is 18 Years or Older Based on the Third Molar Root Pulp Visibility in East China.
Fa Yi Xue Za Zhi
; 40(2): 149-153, 2024 Apr 25.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-38847029
11.
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
Am J Hum Genet
; 106(5): 717-725, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330417
12.
An integrated approach of network pharmacology, molecular docking, and experimental verification uncovers kaempferol as the effective modulator of HSD17B1 for treatment of endometrial cancer.
J Transl Med
; 21(1): 204, 2023 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932403
13.
DPY30 Promotes Proliferation and Cell Cycle Progression of Colorectal Cancer Cells via Mediating H3K4 Trimethylation.
Int J Med Sci
; 20(7): 901-917, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37324189
14.
Contamination, ecological-health risks, and sources of potentially toxic elements in road-dust sediments and soils of the largest urban riverfront scenic park in China.
Environ Geochem Health
; 45(11): 8169-8186, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548849
15.
DNAH14 variants are associated with neurodevelopmental disorders.
Hum Mutat
; 43(7): 940-949, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438214
16.
High triiodothyronine levels induce myocardial hypertrophy via BAFF overexpression.
J Cell Mol Med
; 26(16): 4453-4462, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808902
17.
Integrative analysis of expression profile indicates the ECM receptor and LTP dysfunction in the glioma-related epilepsy.
BMC Genomics
; 23(1): 430, 2022 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35676651
18.
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.
Hum Mol Genet
; 29(9): 1537-1546, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338762
19.
Pathogenesis of COVID-19 and the quality control of nucleic acid detection.
Biochem Biophys Res Commun
; 591: 137-142, 2022 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581843
20.
The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.
J Hum Genet
; 67(2): 103-106, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34462534