Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study

被引：0
作者：
Hayne Cho Park
Hyunjin Ryu
Yong-Chul Kim
Curie Ahn
Kyu-Beck Lee
Yeong Hoon Kim
Yunmi Kim
Seungyeup Han
Yaerim Kim
Eun hui Bae
Seong Kwon Ma
Hee Gyung Kang
Yo Han Ahn
Eujin Park
Kyungjo Jeong
Jaewon Lee
Jungmin Choi
Kook-Hwan Oh
Yun Kyu Oh
机构：
[1] Hallym University College of Medicine,Department of Internal Medicine
[2] Seoul National University College of Medicine,Department of Internal Medicine
[3] National Medical Center,Department of Internal Medicine
[4] Kangbuk Samsung Hospital,Department of Internal Medicine
[5] Busan Paik Hospital,Department of Internal Medicine
[6] Keimyung University School of Medicine,Department of Internal Medicine
[7] Chonnam National University Medical School,Department of Internal Medicine
[8] Seoul National University Children’s Hospital,Department of Pediatrics
[9] Hallym University College of Medicine,Department of Pediatrics
[10] Korea University College of Medicine,Department of Biomedical Sciences
[11] Seoul Metropolitan Government Seoul National University Boramae Medical Center,Department of Internal Medicine
来源：
BMC Nephrology | / 22卷
关键词：
Cohort study; Cystic kidney disease; High-throughput nucleotide sequencing; Genotype; Phenotype; Genetic association studies; Glomerular filtration rate;
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[1]  
Vivante A(2016)Exploring the genetic basis of early-onset chronic kidney disease Nat Rev Nephrol 12 133-146
[2]  
Hildebrandt F(2017)Hereditary renal cystic disorders: imaging of the kidneys and beyond Radiographics 37 924-946
[3]  
Dillman JR(2017)Motile and non-motile cilia in human pathology: from function to phenotypes J Pathol 241 294-309
[4]  
Trout AT(2011)Ciliopathies N Engl J Med 364 1533-1543
[5]  
Smith EA(2017)Renal manifestation of tuberous sclerosis complex Ciliopathies. Cold Spring Harb Perspect Biol. 9 a028191-347
[6]  
Towbin AJ(2018)Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression Am J Med Genet C: Semin Med Genet 178 338-1997
[7]  
Mitchison HM(2010)Early and severe polycystic kidney disease and related Ciliopathies: an emerging field of interest Hum Mol Genet 19 1985-60
[8]  
Valente EM(2019)Many genes-one disease? Genetics of Nephronophthisis (NPHP) and NPHP-associated disorders Nephron 141 50-371
[9]  
Hildebrandt F(2017)A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases Front Pediatr 5 287-960
[10]  
Benzing T(2018)Genetic characteristics of Korean patients with autosomal dominant polycystic kidney disease by targeted exome sequencing Kidney Int 94 363-855
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