Search details
1.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37934770
2.
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Hum Mol Genet
; 31(8): 1325-1335, 2022 04 22.
Article
in English
| MEDLINE | ID: mdl-34740257
3.
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Am J Hum Genet
; 108(9): 1710-1724, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34450031
4.
Metastatic extraneural glioblastoma diagnosed with molecular testing.
Oncologist
; 2024 Jun 05.
Article
in English
| MEDLINE | ID: mdl-38837109
5.
Generation of a humanized mAce2 and a conditional hACE2 mouse models permissive to SARS-COV-2 infection.
Mamm Genome
; 35(2): 113-121, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38488938
6.
Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project.
Hum Mol Genet
; 25(24): 5321-5331, 2016 12 15.
Article
in English
| MEDLINE | ID: mdl-27798100
7.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Hum Mutat
; 38(10): 1365-1371, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28649782
8.
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
Mol Genet Metab
; 121(1): 22-27, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28377241
9.
Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study.
Hum Genet
; 135(11): 1287-1294, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27503288
10.
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.
J Clin Invest
; 2024 Jun 11.
Article
in English
| MEDLINE | ID: mdl-38885336
11.
Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.
PLoS Genet
; 6(6): e1000985, 2010 Jun 10.
Article
in English
| MEDLINE | ID: mdl-20548961
12.
Precision Oncology: Evolving Clinical Trials across Tumor Types.
Cancers (Basel)
; 15(7)2023 Mar 25.
Article
in English
| MEDLINE | ID: mdl-37046628
13.
Ipilimumab, Pembrolizumab, or Nivolumab in Combination with BBI608 in Patients with Advanced Cancers Treated at MD Anderson Cancer Center.
Cancers (Basel)
; 14(5)2022 Mar 04.
Article
in English
| MEDLINE | ID: mdl-35267638
14.
Targeting TGF-ß for treatment of osteogenesis imperfecta.
J Clin Invest
; 132(7)2022 04 01.
Article
in English
| MEDLINE | ID: mdl-35113812
15.
Challenges and opportunities associated with the MD Anderson IMPACT2 randomized study in precision oncology.
NPJ Precis Oncol
; 6(1): 78, 2022 Oct 27.
Article
in English
| MEDLINE | ID: mdl-36302890
16.
Palmitoyl Acyltransferase Activity of ZDHHC13 Regulates Skin Barrier Development Partly by Controlling PADi3 and TGM1 Protein Stability.
J Invest Dermatol
; 140(5): 959-970.e3, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31669413
17.
Combinatorial Prg4 and Il-1ra Gene Therapy Protects Against Hyperalgesia and Cartilage Degeneration in Post-Traumatic Osteoarthritis.
Hum Gene Ther
; 30(2): 225-235, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30070147
18.
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.
Sci Rep
; 7: 43220, 2017 02 23.
Article
in English
| MEDLINE | ID: mdl-28230213
19.
mTORC1 Signaling is a Critical Regulator of Postnatal Tendon Development.
Sci Rep
; 7(1): 17175, 2017 12 07.
Article
in English
| MEDLINE | ID: mdl-29215029
20.
Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver.
Sci Rep
; 7(1): 2182, 2017 05 19.
Article
in English
| MEDLINE | ID: mdl-28526873