Kidney disease genetic risk variants alter lysosomal beta-mannosidase ( <i>MANBA</i> ) expression and disease severity
Xiangchen Gu, Hongliu Yang, Xin Sheng, Yi-An Ko, Chengxiang Qiu, Jihwan Park, Shizheng Huang, Rachel L. Kember, Renae Judy, Joseph Park, Scott M. Damrauer, Girish N. Nadkarni, Ruth J. F. Loos, Ha My T. Vy, Kumardeep Chaudhary, Erwin P. Böttinger, Ishan Paranjpe, Aparna Saha, Christopher D. Brown, Shreeram Akilesh, Adriana M. Hung, Matthew Palmer, Aris Baras, John D. Overton, Jeffrey G. Reid, Marylyn D. Ritchie, Daniel J. Rader, Katalin Suszták
Abstract
in kidney disease development and demonstrate the role of the endolysosomal system in kidney disease development.
Topics & Concepts
Genome-wide association studyKidney diseaseBiologyAristolochic acidKidneyRenal functionLoss functionExpression quantitative trait lociSingle-nucleotide polymorphismBioinformaticsGeneticsGenotypeEndocrinologyGenePhenotypeRenal Diseases and GlomerulopathiesGenetic and Kidney Cyst DiseasesChronic Kidney Disease and Diabetes