A Novel Missense Mutation in AE1 Causing Autosomal Dominant Distal Renal Tubular Acidosis Retains Normal Transport Function but Is Mistargeted in Polarized Epithelial Cells

Nanyawan Rungroj, Mark A.J. Devonald, A. W. Cuthbert, +5

Journal of Biological Chemistry

Distal renal tubular acidosis caused by <i>tryptophan‐aspartate repeat domain 72</i> (<i>WDR72</i>) mutations

Nanyawan Rungroj, Choochai Nettuwakul, Nunghathai Sawasdee, +9

Clinical Genetics

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations

Pa‐thai Yenchitsomanus, Saranya Kittanakom, Nanyawan Rungroj

Journal of Molecular and Genetic Medicine

GeneticsRenal PathologyCellular PhysiologySlc4a1 MutationsRenal Function +15

Evidence suggesting a genetic contribution to kidney stone in northeastern Thai population

Suchai Sritippayawan, Sombat Borvornpadungkitti, Atchara Paemanee, +11

Urological Research

Northeastern Thai PopulationMedicineGeneticsGenetic EpidemiologyGenetic Contribution +5

Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis

Nunghathai Sawasdee, Wandee Udomchaiprasertkul, Sansanee Noisakran, +3

Biochemical and Biophysical Research Communications

UrologySoutheast Asian OvalocytosisRenal PathologyIga GlomerulonephritisPathology +5

A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease

Nanyawan Rungroj, Choochai Nettuwakul, Nirinya Sudtachat, +5

BMC Medical Genetics

Simple, Efficient, and Cost-Effective Multiplex Genotyping with Matrix Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry of Hemoglobin Beta Gene Mutations

Wanna Thongnoppakhun, Surasak Jiemsup, Suganya Yongkiettrakul, +6

Journal of Molecular Diagnostics

EngineeringMolecular Biological MethodMedicineBioanalysisMass Spectrometry +7

Association between Human Prothrombin Variant (T165M) and Kidney Stone Disease

Nanyawan Rungroj, Nirinya Sudtachat, Choochai Nettuwakul, +9

PLoS ONE

UrologyRenal FunctionKidney Stone DiseaseMedicineGenetics +13

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, +4

BMC Medical Genetics

Prothrombin Haplotype Associated With Kidney Stone Disease in Northeastern Thai Patients

Nanyawan Rungroj, Suchai Sritippayawan, Wanna Thongnoppakhun, +13

Urology

HemodialysisUrologyRenal FunctionKidney Stone DiseaseMedicine +8