Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Yao Lu, Keiko Kobayashi, Miharu Ushikai, +13

Journal of Human Genetics

Genetic DisorderGeneticsHuman PolymorphismPathologySlc25a13 Gene +7

MicroRNA-mediated regulation of gene expression in the response of rice plants to fungal elicitors

Patricia Baldrich, Sonia Campo, Ming-Tsung Wu, +3

RNA Biology

EngineeringPlant MirnasPlant Defense GeneGeneticsPlant Pathology +18

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Pei‐Chien Tsai, Bing‐Wen Soong, Inès Mademan, +20

Brain

Exome SequencingGeneticsGenetic EpidemiologyMolecular BiologyDisease Gene Identification +17

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

Mei‐Ying Liu, Yan-Ling Yang, Ying-Chen Chang, +6

Journal of Human Genetics

UrologyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease +7

Haploinsufficiency of<i>RCBTB1</i>is associated with Coats disease and familial exudative vitreoretinopathy

Jeng-Hung Wu, Jorn-Hon Liu, Yu‐Chieh Ko, +8

Human Molecular Genetics

Ocular DiseaseRcbtb1 ExpressionGeneticsGenetic EpidemiologyPathology +21

HOTAIR is a REST-regulated lncRNA that promotes neuroendocrine differentiation in castration resistant prostate cancer

Yi-Ting Chang, Tzu‐Ping Lin, Jui-Ting Tang, +11

Cancer Letters

Endocrine-related CancerRest-regulated LncrnaNeuroendocrine DifferentiationLong Non-coding RnaCell Biology +5

Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

Bing‐Wen Soong, Yen‐Hua Huang, Pei‐Chien Tsai, +10

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis +5

Identification and characterization of an indigo-producing oxygenase involved in indole 3-acetic acid utilization by Acinetobacter baumannii

Guang-Huey Lin, Hao‐Ping Chen, Jui-Hsin Huang, +5

Antonie van Leeuwenhoek

BiochemistryIndigo-producing OxygenaseNatural SciencesBiocatalysisBacteriology +3

A novel <i>TFG</i> mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function

Pei‐Chien Tsai, Yen‐Hua Huang, Yuh-Cherng Guo, +11

Neurology

ALPK1 genetic regulation and risk in relation to gout

Albert Min‐Shan Ko, Hung‐Pin Tu, Tze-Tze Liu, +11

International Journal of Epidemiology