Results 141 to 150 of about 1,469 (156)

A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy

Pediatric Nephrology, 2001
ClC-5 is a chloride channel whose gene mutations have been reported to be associated with X-linked nephrolithiasis (XRN), X-linked recessive hypophosphatemic rickets (XLRH), Dent disease, and idiopathic low-molecular-weight proteinuria (ILMWP) in Japanese children.
T, Morimoto, A, Chiba, Y, Kondo, S, Takahashi, T, Igarashi, C N, Inoue, K, Iinuma   +6 more
openaire   +2 more sources

CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis [PDF]

Kidney International, 1998
X-linked nephrolithiasis, or Dent's disease, encompasses several clinical syndromes of low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure, and is associated with mutations in the CLCN5 gene encoding a kidney-specific voltage-gated chloride channel. Some patients from Europe have rickets, and all
Hoopes, Richard R., Hueber, Paul A., Reid, Robert J., Braden, Gregory L., Goodyer, Paul R., Melnyk, Andrew R., Midgley, Julian P., Moel, Donald I., Neu, Alicia M., VanWhy, Scott K., Scheinman, Steven J.   +10 more
exaly   +3 more sources

A novel CLCN5 mutation in a boy with asymptomatic proteinuria and focal global glomerulosclerosis

Clinical Nephrology, 2013
Dent disease is an X-linked proximal tubulopathy that typically presents with hypercalciuria, low-molecular-weight proteinuria and slow progression to endstage renal disease. We report the case of a 5-year-old boy who presented with asymptomatic nephrotic range proteinuria and was later diagnosed with Dent disease.
Mary Rose, Valina, Christopher P, Larsen, Sherry, Kanosky, Sharon F, Suchy, Linda S, Nield, Ali Mirza, Onder   +5 more
openaire   +2 more sources

A Novel Frameshift Mutation in CLCN5 in a Family with Podocytopathy Phenotype

Journal of the American Society of Nephrology, 2023
Adolya M. Moore, Brandon M. Lane, Megan Chryst-Stangl, Guanghong Wu, Rasheed A. Gbadegesin   +4 more
openaire   +1 more source

НЕФРОКАЛЬЦИНОЗ У РЕБЕНКА ПЕРВОГО ГОДА ЖИЗНИ, ОБУСЛОВЛЕННЫЙ ПАТОГЕННЫМ ВАРИАНТОМ CLCN5

IV Конференция по орфанным и детским эндокринным заболеваниям "Эндокринная орфанетика: достижения и перспективы"
openaire   +2 more sources

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

Human Genetics, 2003
Felix Claverie-Martin, Montserrat Anton-Gamero   +1 more
exaly  

Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts

Pediatric Nephrology, 2019
Lada Beara-Lasic, Andrea Cogal, Susan L Furth   +2 more
exaly  

Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5’ UTR end of ClC-5 mRNA in human renal tissue and leukocytes

Journal of Human Genetics, 2004
Giovanni Gambaro, Franca Anglani
exaly  

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

European Journal of Pediatrics, 2011
Takayuki Okamoto
exaly  

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent’s disease

Journal of Human Genetics, 2007
Elena Ramos-Trujillo, Carlos Flores, Laura Espinosa   +2 more
exaly