Hypoxia controls expression of kidney-pathogenic MUC1 variants
暂无分享,去创建一个
M. Schiffer | J. Schödel | K. Knaup | Steffen Grampp | S. Naas | Julia Naas | René Krüger | M. Wiesener
[1] B. Obermayer,et al. Single-cell transcriptomics reveals common epithelial response patterns in human acute kidney injury , 2022, Genome Medicine.
[2] B. Wullich,et al. The renal cancer risk allele at 14q24.2 activates a novel hypoxia-inducible transcription factor-binding enhancer of DPF3 expression , 2022, The Journal of biological chemistry.
[3] A. Köttgen,et al. An intermediate-effect size variant in UMOD confers risk for chronic kidney disease , 2021, medRxiv.
[4] R. Handsaker,et al. Protein-coding repeat polymorphisms strongly shape diverse human phenotypes , 2021, Science.
[5] J. Kellum,et al. KIM-1-mediated anti-inflammatory activity is preserved by MUC1 induction in the proximal tubule during ischemia-reperfusion injury. , 2021, American journal of physiology. Renal physiology.
[6] S. Dhanasekaran,et al. Single-cell analyses of renal cell cancers reveal insights into tumor microenvironment, cell of origin, and therapy response , 2021, Proceedings of the National Academy of Sciences.
[7] Raphael Gottardo,et al. Integrated analysis of multimodal single-cell data , 2020, Cell.
[8] K. Dahan,et al. Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. , 2020, Kidney international.
[9] Dan Zhang,et al. Construction of a human cell landscape at single-cell level , 2020, Nature.
[10] K. Amann,et al. Molecular diagnosis of kidney transplant failure based on urine , 2019, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.
[11] Tetsuhiro Tanaka,et al. Prolyl hydroxylase inhibition protects the kidneys from ischemia via upregulation of glycogen storage. , 2019, Kidney international.
[12] Karsten B. Sieber,et al. Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria , 2019, Nature Communications.
[13] P. Ratcliffe,et al. Mechanisms of hypoxia signalling: new implications for nephrology , 2019, Nature Reviews Nephrology.
[14] K. Eckardt,et al. Autosomal dominant tubulointerstitial kidney disease , 2019, Nature Reviews Disease Primers.
[15] Karsten B. Sieber,et al. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels , 2019, Nature Genetics.
[16] A. Gnirke,et al. Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy , 2019, Cell.
[17] Allon M Klein,et al. Scrublet: Computational Identification of Cell Doublets in Single-Cell Transcriptomic Data. , 2019, Cell systems.
[18] James M. Eales,et al. Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies , 2019, Nature Communications.
[19] G. Schley,et al. HIF-1α promotes cyst progression in a mouse model of autosomal dominant polycystic kidney disease. , 2018, Kidney international.
[20] James M. Eales,et al. Molecular insights into genome-wide association studies of chronic kidney disease-defining traits , 2018, Nature Communications.
[21] K. Ribbeck,et al. Mucins and Their Role in Shaping the Functions of Mucus Barriers. , 2018, Annual review of cell and developmental biology.
[22] Laleh Haghverdi,et al. Batch effects in single-cell RNA-sequencing data are corrected by matching mutual nearest neighbors , 2018, Nature Biotechnology.
[23] E. Salido,et al. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations , 2018, Scientific Reports.
[24] A. Köttgen,et al. Genetic and environmental risk factors for chronic kidney disease. , 2017, Kidney international supplements.
[25] P. Ratcliffe,et al. Multiple renal cancer susceptibility polymorphisms modulate the HIF pathway , 2017, PLoS genetics.
[26] R. Sandford,et al. A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion , 2017, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[27] M. Copin,et al. Dual role of MUC1 mucin in kidney ischemia-reperfusion injury: Nephroprotector in early phase, but pro-fibrotic in late phase. , 2017, Biochimica et biophysica acta. Molecular basis of disease.
[28] V. Haase. Oxygen sensors as therapeutic targets in kidney disease. , 2017, Nephrologie & therapeutique.
[29] A. Hartmann,et al. Genetic variation at the 8q24.21 renal cancer susceptibility locus affects HIF binding to a MYC enhancer , 2016, Nature Communications.
[30] Fidel Ramírez,et al. deepTools2: a next generation web server for deep-sequencing data analysis , 2016, Nucleic Acids Res..
[31] K. Eckardt,et al. HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond , 2016, Nature Reviews Nephrology.
[32] K. Hallows,et al. Muc1 is protective during kidney ischemia-reperfusion injury. , 2015, American journal of physiology. Renal physiology.
[33] M. Uder,et al. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. , 2014, Kidney international.
[34] P. Mukherjee,et al. MUC1: a multifaceted oncoprotein with a key role in cancer progression. , 2014, Trends in molecular medicine.
[35] Matteo Trudu,et al. Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression , 2013, Nature Medicine.
[36] Eric S. Lander,et al. Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing , 2013, Nature Genetics.
[37] M. Nangaku,et al. Frontiers in Research Review: Kidney Oxygenation in Health and Disease Regulation of hypoxia-inducible factor in kidney disease , 2013 .
[38] Fabian J Theis,et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations , 2012, Nature Genetics.
[39] G. Schley,et al. Selective stabilization of HIF-1α in renal tubular cells by 2-oxoglutarate analogues. , 2012, The American journal of pathology.
[40] S. Kroening,et al. Distinct Mesenchymal Alterations in N-Cadherin and E-Cadherin Positive Primary Renal Epithelial Cells , 2012, PloS one.
[41] Y. J. Kim,et al. Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations , 2012, Nature Genetics.
[42] G. Semenza,et al. Hypoxia-Inducible Factors in Physiology and Medicine , 2012, Cell.
[43] B. Buchholz,et al. Donor treatment with a PHD-inhibitor activating HIFs prevents graft injury and prolongs survival in an allogenic kidney transplant model , 2009, Proceedings of the National Academy of Sciences.
[44] E. Birney,et al. Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt , 2009, Nature Protocols.
[45] K. Kimura,et al. Stable expression of HIF-1alpha in tubular epithelial cells promotes interstitial fibrosis. , 2008, American journal of physiology. Renal physiology.
[46] R. Johnson,et al. Acute postnatal ablation of Hif-2α results in anemia , 2007, Proceedings of the National Academy of Sciences.
[47] D. Darling,et al. MUC1 splice variants in human ocular surface tissues: possible differences between dry eye patients and normal controls. , 2006, Experimental eye research.
[48] X. Lens,et al. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. , 2004, Kidney international.
[49] M. Ligtenberg,et al. A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA. , 1991, Nucleic acids research.
[50] A. Howie,et al. Epithelial membrane antigen in normal and proteinuric glomeruli and in damaged proximal tubules , 1986, The Journal of pathology.
[51] E. Heyderman,et al. A new antigen on the epithelial membrane: its immunoperoxidase localisation in normal and neoplastic tissue. , 1979, Journal of clinical pathology.
[52] Thomas R. Gingeras,et al. STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..