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。From Lowe Syndrome to Dent Disease: Correlations between Mutations of the OCRL1 Gene and Clinical and Biochemical Phenotypes
Haifa Hichri et al.
HUMAN MUTATION (2011)
Dent's disease: clinical features and molecular basis
Felix Claverie-Martin et al.
PEDIATRIC NEPHROLOGY (2011)
Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis
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SCIENCE (2010)
Dent-2 Disease: A Mild Variant of Lowe Syndrome
Arend Bokenkamp et al.
JOURNAL OF PEDIATRICS (2009)
OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability
Antony E. Shrimpton et al.
NEPHRON PHYSIOLOGY (2009)
Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?
Yaacov Frishberg et al.
PEDIATRIC NEPHROLOGY (2009)
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure
Andrew J. Smith et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2009)
Renal phenotype in Lowe syndrome: A selective proximal tubular dysfunction
Detlef Bockenhauer et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)
Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis
Lawrence Copelovitch et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
OCRL1 mutations in patients with Dent disease phenotype in Japan
Takashi Sekine et al.
PEDIATRIC NEPHROLOGY (2007)
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5
A Picollo et al.
NATURE (2005)
Dent disease with mutations in OCRL1
RR Hoopes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Evidence for genetic heterogeneity in Dent's disease
RR Hoopes et al.
KIDNEY INTERNATIONAL (2004)
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship
F Wu et al.
KIDNEY INTERNATIONAL (2003)
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis
SS Wang et al.
HUMAN MOLECULAR GENETICS (2000)
CIC-5Cl--channel disruption impairs endocytosis in a mouse model for Dent's disease
N Piwon et al.
NATURE (2000)
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease
T Igarashi et al.
KIDNEY INTERNATIONAL (2000)
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis
RV Thakker
KIDNEY INTERNATIONAL (2000)
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