Dr. Chen, Yuan-Tsong 陳垣崇博士 HIGHLIGHT DETAIL 重要成果詳細內容

HIGHLIGHT DETAIL
重要成果詳細內容

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

Hum. Mol. Genet., Jul 24, 2010

Mutations in glucose transporter 10 (GLUT10) alter angiogenesis and cause arterial tortuosity syndrome (ATS); however, the mechanisms by which these mutations cause disease remain unclear. It has been reported that in most cells, mitochondria are the major source of reactive oxygen species (ROS).

Journal Link 期刊連結

List of Highlights
文件紀錄

Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
Scientific Reports May 19, 2017
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia
Scientific Reports Feb 23, 2017
Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13 Deficient Mice Reveals the Importance of Palmitoylation in Hair and Skin Differentiation.
J Invest Dermatol. Jun 29, 2015
CXCL10/IP-10 is a Biomarker and Mediator for Kawasaki Disease.
Circ Res. Jan 20, 2015
Pharmacogenomics of adverse drug reactions: implementing personalized medicine.
Hum Mol Genet. Aug 19, 2012
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
Nat Genet. May 25, 2012
Direct interaction between HLA-B and carbamazepine activates T cells in patients with Stevens-Johnson syndrome.
J Allergy Clin Immunol. Feb 07, 2012
Shared and restricted T-cell receptor use is crucial for carbamazepine-induced Stevens-Johnson syndrome.
J Allergy Clin Immunol. Sep 14, 2011
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.
Hum. Mol. Genet. Jul 24, 2010
Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase.
PLoS Genet. Jun 10, 2010
A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese
PLoS Genetics Feb 19, 2010
Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data.
NEJM. Feb 19, 2009
Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis.
Nature Medicine. Nov 23, 2008
Mutations in the SLC2A10 gene cause arterial abnormalities in mice
Cardiovascular Research. Nov 21, 2008
Prospective Study of Warfarin Dosage Requirements Based on CYP2C9 and VKORC1 Genotypes.
Clinical Pharmacology and Therapeutics. Jan 09, 2008
HLA-B *1502-bound peptides: Implications for the pathogenesis of carbamazepine-induced Stevens-Johnson syndrome.
J Allergy Clin Immunol. Aug 11, 2007
ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein ß-subunit.
Human Molecular Genetics. Nov 20, 2006
Long contiguous stretches of homozygosity in the human genome.
Human Mutation. Sep 05, 2006
A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.
Human Molecular Genetics. May 11, 2005
HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.
PNAS. Mar 15, 2005

Dr. Chen, Yuan-Tsong 陳垣崇博士

HIGHLIGHT DETAIL
重要成果詳細內容

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

List of Highlights
文件紀錄

Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia

Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13 Deficient Mice Reveals the Importance of Palmitoylation in Hair and Skin Differentiation.

CXCL10/IP-10 is a Biomarker and Mediator for Kawasaki Disease.

Pharmacogenomics of adverse drug reactions: implementing personalized medicine.

Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.

Direct interaction between HLA-B and carbamazepine activates T cells in patients with Stevens-Johnson syndrome.

Shared and restricted T-cell receptor use is crucial for carbamazepine-induced Stevens-Johnson syndrome.

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase.

A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese

Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data.

Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis.

Mutations in the SLC2A10 gene cause arterial abnormalities in mice

Prospective Study of Warfarin Dosage Requirements Based on CYP2C9 and VKORC1 Genotypes.

HLA-B *1502-bound peptides: Implications for the pathogenesis of carbamazepine-induced Stevens-Johnson syndrome.

ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein ß-subunit.

Long contiguous stretches of homozygosity in the human genome.

A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.

HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.

HIGHLIGHT DETAIL重要成果詳細內容

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

List of Highlights文件紀錄

HIGHLIGHT DETAIL
重要成果詳細內容

List of Highlights
文件紀錄