Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Zhimiao Lin, Quan Chen, Ming-Yang Lee, +18

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis +6

N-acetylcysteine has neuroprotective effects against oxaliplatin-based adjuvant chemotherapy in colon cancer patients: preliminary data

Peng-Chan Lin, Ming-Yang Lee, Wei-Shu Wang, +7

Supportive Care in Cancer

Colon Cancer PatientsOncologyGastrointestinal OncologyMedicineColorectal Cancer +8

Melatonin decreases neurovascular oxidative/nitrosative damage and protects against early increases in the blood–brain barrier permeability after transient focal cerebral ischemia in mice

Hung-Yi Chen, Tsung‐Ying Chen, Ming-Yang Lee, +6

Journal of Pineal Research

Bbb PermeabilityNeurovascular Oxidative/nitrosative DamageSocial SciencesOxidative StressNeuroinflammation +19

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Zhimiao Lin, Quan Chen, Lei Shi, +15

The American Journal of Human Genetics

Somatic VariantGenetic DisorderGeneticsPathologyMolecular Genetics +3

Rituximab therapy increased post-transplant cytomegalovirus complications in Non-Hodgkin’s lymphoma patients receiving autologous hematopoietic stem cell transplantation

Ming-Yang Lee, Tzeon Jye Chiou, Liang Tsai Hsiao, +8

Annals of Hematology

Lymphoid NeoplasiaPost-transplant Cytomegalovirus ComplicationsCell TherapyTransplantationLymphoma Patients +6

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, +30

The American Journal of Human Genetics

Transcriptional RegulationSystems BiologySignal TransductionMolecular PhysiologyDisease Mechanism +7

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness

Lawrence J. Hayward, Joanna S. Kim, Ming-Yang Lee, +12

Journal of Clinical Investigation

Muscle FunctionGeneticsCellular PhysiologyHyperkalemic Periodic ParalysisMouse Muscle +21

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Huijun Wang, Xu Cao, Zhimiao Lin, +14

Human Molecular Genetics

Epidermolysis Bullosa Pruriginosa Treated With Baricitinib

Xingyuan Jiang, Huijun Wang, Ming-Yang Lee, +1

JAMA Dermatology

Surgical PathologyTrauma-induced ErosionsPathologyClinical DermatologyWound Healing +6

Cinnamophilin reduces oxidative damage and protects against transient focal cerebral ischemia in mice

E-Jian Lee, Hung-Yi Chen, Ming-Yang Lee, +5

Free Radical Biology and Medicine

InflammationCerebral Vascular RegulationMedicineOxidative DamageCell Death +11