Remission of proteinuria following correction of hyperlipidemia in NIDDM patients with nondiabetic glomerulopathy
OBJECTIVE Animal studies suggest that hyperlipidemia may play a direct role in glomerular
damage. In patients with non-insulin-dependent diabetes mellitus (NIDDM), dyslipidemia …
damage. In patients with non-insulin-dependent diabetes mellitus (NIDDM), dyslipidemia …
Pancreatic involvement in von Hippel–Lindau disease
…, A Penfornis, A Sauvanet, JM Correas, D Chauveau… - Gastroenterology, 2000 - Elsevier
Background & Aims: Pancreatic involvement in von Hippel-Lindau (VHL) disease, a genetic
disorder with a dominant mode of inheritance affecting various organs, has rarely been …
disorder with a dominant mode of inheritance affecting various organs, has rarely been …
Clinical spectrum associated with hepatocyte nuclear factor-1β mutations
C Bellanné-Chantelot, D Chauveau… - Annals of internal …, 2004 - acpjournals.org
Background: Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly
inherited diabetes mellitus and nephropathy, has been associated with mutations of the …
inherited diabetes mellitus and nephropathy, has been associated with mutations of the …
[HTML][HTML] Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
…, K Hopp, S Roy, SW Horsley, D Chauveau… - Kidney international, 2009 - Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is
significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely …
significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely …
[HTML][HTML] Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—a KDIGO consensus report
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the
genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and …
genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and …
Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5
C Bellanné-Chantelot, S Clauin, D Chauveau… - Diabetes, 2005 - Am Diabetes Assoc
Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 gene
encoding the transcription factor hepatocyte nuclear factor-1β. However, in 60% of the patients …
encoding the transcription factor hepatocyte nuclear factor-1β. However, in 60% of the patients …
Management of cerebral aneurysms in autosomal dominant polycystic kidney disease
Y Pirson, D Chauveau, V Torres - Journal of the American Society …, 2002 - journals.lww.com
The association of intracranial aneurysm (ICA) and autosomal dominant polycystic kidney
disease (ADPKD) has been known for many years. Its prevalence has only been estimated …
disease (ADPKD) has been known for many years. Its prevalence has only been estimated …
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current
…, J Vale-Santos, D Chauveau… - Proceedings of the …, 2000 - National Acad Sciences
The pathomechanism of familial hypokalemic periodic paralysis (HypoPP) is a mystery,
despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor (…
despite knowledge of the underlying dominant point mutations in the dihydropyridine receptor (…
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
…, K Jurkat-Rott, S Nicole, E Launay, D Chauveau… - Brain, 2001 - academic.oup.com
Hypokalaemic periodic paralysis (hypoPP) is an autosomal dominant muscle disorder
characterized by episodic attacks of muscle weakness associated with a decrease in blood …
characterized by episodic attacks of muscle weakness associated with a decrease in blood …
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin
…, C Jacquot, MF Gagnadoux, D Chauveau… - Journal of the …, 2003 - journals.lww.com
Familial juvenile hyperuricemic nephropathy (FJHN [MIM 162000]) is an autosomal-dominant
disorder characterized by abnormal tubular handling of urate and late development of …
disorder characterized by abnormal tubular handling of urate and late development of …