Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

Argelia Medeiros‐Domingo, Bi-Hua Tan, Lia Crotti, +10

Heart Rhythm

Cardiac MuscleChannelopathiesCardiomyopathySignal TransductionMolecular Physiology +12

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants

Bi-Hua Tan, Carmen R. Valdivia, Benjamin A. Rok, +5

Heart Rhythm

Allelic VariantQ1077 Splice VariantsGenetic DisorderGeneticsHuman Polymorphism +4

Sudden infant death syndrome–associated mutations in the sodium channel beta subunits

Bi-Hua Tan, Kavitha N. Pundi, David W. Van Norstrand, +5

Heart Rhythm

ChannelopathiesDevelopmental BiologySodium HomeostasisGenetic DisorderGenetics +7

Targeting casein kinase II restores Ikaros tumor suppressor activity and demonstrates therapeutic efficacy in high-risk leukemia

Chunhua Song, Chandrika Gowda, Xiaokang Pan, +16

Blood

Loss-of-Function Mutations in the <i>KCNJ8</i> -Encoded Kir6.1 K _ATP Channel and Sudden Infant Death Syndrome

David J. Tester, Bi-Hua Tan, Argelia Medeiros‐Domingo, +3

Circulation Cardiovascular Genetics

MiR-215, an activator of the CTNNBIP1/β-catenin pathway, is a marker of poor prognosis in human glioma

Yong-Qing Tong, Bei Liu, Hong-Yun Zheng, +7

Oncotarget

Partial expression defect for the <i>SCN5A</i> missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine

Bi-Hua Tan, Carmen R. Valdivia, Chunhua Song, +1

American Journal of Physiology-Heart and Circulatory Physiology

Cardiac MuscleGeneticsMolecular BiologyMolecular GeneticsDisease Gene Identification +22

Transcriptional Regulation of JARID1B/KDM5B Histone Demethylase by Ikaros, Histone Deacetylase 1 (HDAC1), and Casein Kinase 2 (CK2) in B-cell Acute Lymphoblastic Leukemia

Haijun Wang, Chunhua Song, Yali Ding, +15

Journal of Biological Chemistry

The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current

Jianding Cheng, David J. Tester, Bi-Hua Tan, +6

Physiological Genomics

GeneticsMutation Scn5a-r680hGenetic EpidemiologyHuman PolymorphismMolecular Biology +17

Sudden Unexplained Nocturnal Death Syndrome in Southern China

Jianding Cheng, Jonathan C. Makielski, Ping Yuan, +5

American Journal of Forensic Medicine & Pathology

Genetic EpidemiologyDiagnosisHuman PolymorphismDisease Gene IdentificationImmune-related Gene Polymorphism +15