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1.
Berberine Ameliorates Abnormal Lipid Metabolism via the Adenosine Monophosphate-Activated Protein Kinase/Sirtuin 1 Pathway in Alcohol-Related Liver Disease.
Lab Invest
; 103(4): 100041, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36870291
2.
Impaired fertility in 4930590J08Rik mutant male mice is associated with defective sperm energy metabolism.
FASEB J
; 36(12): e22634, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36331537
3.
Antibody preparation and age-dependent distribution of TLR8 in Bactrian camel spleens.
BMC Vet Res
; 19(1): 276, 2023 Dec 16.
Article
in English
| MEDLINE | ID: mdl-38104080
4.
A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.
Mov Disord
; 37(3): 598-607, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34927746
5.
Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Brain
; 143(2): 491-502, 2020 02 01.
Article
in English
| MEDLINE | ID: mdl-31851307
6.
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
Brain
; 143(1): 222-233, 2020 01 01.
Article
in English
| MEDLINE | ID: mdl-31819945
7.
Human intracellular ISG15 prevents interferon-α/ß over-amplification and auto-inflammation.
Nature
; 517(7532): 89-93, 2015 Jan 01.
Article
in English
| MEDLINE | ID: mdl-25307056
8.
Coding mutations in NUS1 contribute to Parkinson's disease.
Proc Natl Acad Sci U S A
; 115(45): 11567-11572, 2018 11 06.
Article
in English
| MEDLINE | ID: mdl-30348779
9.
Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype.
Mol Pain
; 16: 1744806920923881, 2020.
Article
in English
| MEDLINE | ID: mdl-32420800
10.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Article
in English
| MEDLINE | ID: mdl-29294000
11.
Amide-Iminoate Isomerism in Antineuroinflammatory Isoquinoline Alkaloids from Stephania cepharantha.
J Nat Prod
; 83(4): 864-872, 2020 04 24.
Article
in English
| MEDLINE | ID: mdl-32129063
12.
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
J Med Genet
; 56(4): 265-270, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30194086
13.
Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.
Mov Disord
; 34(2): 291-297, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30589467
14.
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
J Biol Chem
; 292(15): 6225-6239, 2017 04 14.
Article
in English
| MEDLINE | ID: mdl-28209709
15.
Do anti-CD36 antibodies cause only fetal/neonatal alloimmune thrombocytopenia?
Br J Haematol
; 202(6): e62-e66, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37455425
16.
A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
Epilepsia
; 59(8): 1621-1630, 2018 08.
Article
in English
| MEDLINE | ID: mdl-30009426
17.
lncRNA-MIAT regulates microvascular dysfunction by functioning as a competing endogenous RNA.
Circ Res
; 116(7): 1143-56, 2015 Mar 27.
Article
in English
| MEDLINE | ID: mdl-25587098
18.
iTRAQ-Based Comparative Proteomics Analysis of the Fruiting Dikaryon and the Non-fruiting Monokaryon of Flammulina velutipes.
Curr Microbiol
; 74(1): 114-124, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27866250
19.
[Repeated superovulation induction after failure in previous IVF-ET cycles with the ultra-long protocol: Analysis of outcomes of clinical pregnancy].
Zhonghua Nan Ke Xue
; 23(12): 1099-1102, 2017 Dec.
Article
in Zh
| MEDLINE | ID: mdl-29738181
20.
Gain-of-function mutations in SCN11A cause familial episodic pain.
Am J Hum Genet
; 93(5): 957-66, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24207120