Cargando…

A Novel UMOD Mutation (c.187T>C) in a Korean Family with Juvenile Hyperuricemic Nephropathy

Familial juvenile hyperuricemic nephropathy (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive renal failure. Gradual progressive interstitial renal disease, with basement membrane thic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lee, Mi-Na, Jun, Ji-Eun, Kwon, Ghee Young, Huh, Woo-Seong, Ki, Chang-Seok
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698310/ https://www.ncbi.nlm.nih.gov/pubmed/23826568 http://dx.doi.org/10.3343/alm.2013.33.4.293

Ejemplares similares

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
por: Calado, Joaquim, et al.
Publicado: (2005)

First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD
por: Malakoutian, Tahereh, et al.
Publicado: (2016)

UMOD genetic variations and myeloma cast nephropathy
por: Belliere, Julie, et al.
Publicado: (2019)

A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
por: Lee, Dong Hun, et al.
Publicado: (2010)

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy
por: Saxena, D., et al.
Publicado: (2016)

Standardized, Systemic Phenotypic Analysis of Umod (C93F) and Umod (A227T) Mutant Mice
por: Kemter, Elisabeth, et al.
Publicado: (2013)

A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene
por: Nakayama, Mayuka, et al.
Publicado: (2012)

Pharmacological inhibition of autophagy by 3-MA attenuates hyperuricemic nephropathy
por: Bao, Jinfang, et al.
Publicado: (2018)

A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report
por: Li, Furong, et al.
Publicado: (2023)

A founder UMOD variant is a common cause of hereditary nephropathy in the British population
por: Valluru, Manoj K, et al.
Publicado: (2023)

UMOD and the architecture of kidney disease
por: Devuyst, Olivier, et al.
Publicado: (2022)

Baicalein decreases uric acid and prevents hyperuricemic nephropathy in mice
por: Meng, Xiaolu, et al.
Publicado: (2017)

Pharmacologic Targeting of BET Proteins Attenuates Hyperuricemic Nephropathy in Rats
por: Xiong, Chongxiang, et al.
Publicado: (2021)

Delayed treatment with an autophagy inhibitor 3-MA alleviates the progression of hyperuricemic nephropathy
por: Shi, Yingfeng, et al.
Publicado: (2020)

Pharmacologic targeting ERK1/2 attenuates the development and progression of hyperuricemic nephropathy in rats
por: Liu, Na, et al.
Publicado: (2017)

Evaluation of renal microperfusion in hyperuricemic nephropathy by contrast-enhanced ultrasound imaging
por: He, Li, et al.
Publicado: (2022)

Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD (ADTKD-UMOD)
por: Kemter, Elisabeth, et al.
Publicado: (2017)

UMOD Mutations in Chronic Kidney Disease in Taiwan
por: Chen, Huan-Da, et al.
Publicado: (2022)

UMOD polymorphism rs12917707 is not associated with severe or stable IgA nephropathy in a large Caucasian cohort
por: Dinic, Miriana, et al.
Publicado: (2014)

Blockade of Autophagy Prevents the Progression of Hyperuricemic Nephropathy Through Inhibiting NLRP3 Inflammasome-Mediated Pyroptosis
por: Hu, Yan, et al.
Publicado: (2022)

UMOD and you! Explaining a rare disease diagnosis
por: Mabillard, Holly, et al.
Publicado: (2022)

Anti-Hyperuricemic and Uricosuric Potential of Berberis vulgaris in Oxonate-Induced Hyperuricemic Rats
por: Bilal, Muhammad, et al.
Publicado: (2021)

Upregulation of C/EBP Homologous Protein induced by ER Stress Mediates Epithelial to Myofibroblast Transformation in ADTKD-UMOD
por: Wang, Dan, et al.
Publicado: (2022)

Febuxostat attenuates ER stress mediated kidney injury in a rat model of hyperuricemic nephropathy
por: He, Li, et al.
Publicado: (2017)

Treatment with a PPAR-γ Agonist Protects Against Hyperuricemic Nephropathy in a Rat Model
por: Wang, Xin, et al.
Publicado: (2020)

Activation of NRF2 Signaling Pathway Delays the Progression of Hyperuricemic Nephropathy by Reducing Oxidative Stress
por: Qiao, Panshuang, et al.
Publicado: (2023)

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease
por: Lopes, L.B., et al.
Publicado: (2018)

Anti-Hyperuricemic and Nephroprotective Effects of Dihydroberberine in Potassium Oxonate- and Hypoxanthine-Induced Hyperuricemic Mice
por: Xu, Lieqiang, et al.
Publicado: (2021)

The decay of $^{187}$Pt: comparison of the levels of $^{187}$Ir
por: Sébille-Schück, C, et al.
Publicado: (1973)

UMOD as a susceptibility gene for end-stage renal disease
por: Reznichenko, Anna, et al.
Publicado: (2012)

Hyperuricemic PRP in Tendon Cells
por: Andia, I., et al.
Publicado: (2014)

Memorandum 187
por: CERN. Geneva. Proton Synchrotron and Synchrocyclotron Committee
Publicado: (1984)

Astragaloside IV improves the pharmacokinetics of febuxostat in rats with hyperuricemic nephropathy by regulating urea metabolism in gut microbiota
por: Zhao, Zhen Xiong, et al.
Publicado: (2022)

Simiao pill inhibits epithelial mesenchymal transition in a mouse model of chronic hyperuricemic nephropathy by inhibiting NLRP3 inflammasome activation
por: Shui, Guangxing, et al.
Publicado: (2022)

Possible role of l‐carnitine in improvement of metabolic and hepatic changes in hyperuricemic and hyperuricemic—Fructose‐supplemented rats
por: El‐Kafoury, Bataa M. A., et al.
Publicado: (2019)

Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report
por: Chong, Yosep, et al.
Publicado: (2016)

Development of next generation sequencing panel for UMOD and association with kidney disease
por: Bailie, Caitlin, et al.
Publicado: (2017)

Elevated UMOD methylation level in peripheral blood is associated with gout risk
por: Yang, Yong, et al.
Publicado: (2017)

Randomized control trial for the assessment of the anti-albuminuric effects of topiroxostat in hyperuricemic patients with diabetic nephropathy (the ETUDE study)
por: Kato, Sawako, et al.
Publicado: (2016)

Crucial role of serum response factor in renal tubular epithelial cell epithelial-mesenchymal transition in hyperuricemic nephropathy
por: Zhao, Long, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_4tgehn1ja88jmbhg3ugop0gv10