Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
出版年份 2018 全文链接
标题
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
作者
关键词
-
出版物
BMC Nephrology
Volume 19, Issue 1, Pages -
出版商
Springer Nature America, Inc
发表日期
2018-10-30
DOI
10.1186/s12882-018-1107-y
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
- (2016) Nikhita Ajit Bolar et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The ExAC browser: displaying reference data information from over 60 000 exomes
- (2016) Konrad J. Karczewski et al. NUCLEIC ACIDS RESEARCH
- From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis
- (2016) Gopalakrishnan Venkat-Raman et al. PEDIATRIC NEPHROLOGY
- The 100 000 Genomes Project
- (2016) Mark Peplow BMJ-British Medical Journal
- The 100 000 Genomes Project
- (2016) Mark Peplow BMJ-British Medical Journal
- Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
- (2015) Kai-Uwe Eckardt et al. KIDNEY INTERNATIONAL
- Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis
- (2015) Christine Gast et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy
- (2014) Marco Quaglia et al. CLINICAL TRANSPLANTATION
- The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia
- (2014) Andrew Mallett et al. Orphanet Journal of Rare Diseases
- Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease
- (2013) J. L. Moskowitz et al. Clinical Journal of the American Society of Nephrology
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
- (2013) Andrew Kirby et al. NATURE GENETICS
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- New primary renal diagnosis codes for the ERA-EDTA
- (2012) Gopalakrishnan Venkat-Raman et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure
- (2011) G. D. Smith et al. Clinical Journal of the American Society of Nephrology
- Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations
- (2011) G. Bollee et al. Clinical Journal of the American Society of Nephrology
- Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
- (2010) Frank Zaucke et al. HUMAN MOLECULAR GENETICS
- Uromodulin Biology and Pathophysiology – An Update
- (2010) Petr Vyletal et al. KIDNEY & BLOOD PRESSURE RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Chapter 4: UK ESRD Prevalent Rates in 2008: national and centre-specific analyses
- (2010) Catherine Byrne et al. NEPHRON CLINICAL PRACTICE
- Uromodulin-Associated Kidney Disease
- (2010) Anthony J. Bleyer et al. NEPHRON CLINICAL PRACTICE
- Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
- (2009) Martina Živná et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum
- (2009) Siân E. Williams et al. HUMAN MOLECULAR GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
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