논문KCI 등재
<i>CUBN</i> mutation, a genetic cause of persistent proteinuria in children
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참고문헌 (9)
- Birn H, "Cubilin is an albumin binding protein important for renal tubular albumin reabsorption", J Clin Invest, 105, pp.1353~1361 (2000)
- Boger CA, "CUBN is a gene locus for albuminuria", J Am Soc Nephrol, 22, pp.555~570 (2011)
- Rovin BH, "Executive summary of the KDIGO 2021 guideline for the management of glomerular diseases", Kidney Int, 100, pp.753~779 (2021)
- Arora V, "Genetic testing in pediatric kidney disease", Indian J Pediatr, 87, pp.706~715 (2020)
- Lee HK, "CUBN mutation : a benign genetic cause of proteinuria?", Child Kidney Dis, 27, pp.19~25 (2023)
- Bedin M, "Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function", J Clin Invest, 130, pp.335~344 (2020)
- Domingo-Gallego A, "Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants", Nephrol Dial Transplant, 37, pp.1906~1915 (2022)
- Cicek N, "Clinical and genetic characterization of children with cubilin variants", Pediatr Nephrol, 38, pp.1381~1385 (2023)
- Brown KD, "Precision medicine in kidney disease : the patient's view", Nat Rev Nephrol, 16, pp.625~627 (2020)
관련 논문AI추천
Clinical Genetic Testing in Children with Kidney DiseaseBeom Hee Lee, Eungu Kang대한소아신장학회 · Childhood Kidney Diseases2021 · 제25권 제1호Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience강희경, 안요한, 이현주, Min Jeesu대한소아신장학회 · Childhood Kidney Diseases2022 · 제26권 제1호CUBN mutation: a benign genetic cause of proteinuria?Lee Hyun Kyung대한소아신장학회 · Childhood Kidney Diseases2023 · 제27권 제1호Congenital Nephrogenic Diabetes Insipidus Presented with Bilateral Hydronephrosis: Genetic Analysis of V2R Gene Mutations강신욱, 김주성, 김형종, 류동렬, 송영수, 유태현, 이상철, 최훈영연세대학교의과대학 · Yonsei Medical Journal2006 · 제47권 제1호Genetic Basis of Steroid Resistant Nephrotic SyndromeEujin Park대한소아신장학회 · Childhood Kidney Diseases2019 · 제23권 제2호The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation강희경, 성문우, Ahn Yo Han, Chae Seung Won, Kim Boram, Kim Man Jin, Lee Jee Soo, Lim Han Sol, Park Jae Hyeon대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제3호
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