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A rare case of hyporeninemic hypertension: Answers

Pediatric nephrology (Berlin, West), 2021-03, Vol.36 (3), p.569-573

2021

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A rare case of hyporeninemic hypertension: Questions

Pediatric nephrology (Berlin, West), 2021-03, Vol.36 (3), p.567-568

2021

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Nephronophthisis

Pediatric nephrology (Berlin, West), 2011-02, Vol.26 (2), p.181-194

2011

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Nephronophthisis: a pathological and genetic perspective

Pediatric nephrology (Berlin, West), 2024-07, Vol.39 (7), p.1977-2000

2024

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The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency

Pediatric nephrology (Berlin, West), 2022-06, Vol.37 (6), p.1415-1418

2022

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Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

Human molecular genetics, 2010-05, Vol.19 (10), p.1985-1997

2010

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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Scientific reports, 2018-03, Vol.8 (1), p.4170-12, Article 4170

2018

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Ghrelin enhances tubular magnesium absorption in the kidney

Frontiers in physiology, 2024-04, Vol.15, p.1363708-1363708

2024

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Nature genetics, 2007-07, Vol.39 (7), p.875-881

2007

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Evidence of oligogenic inheritance in nephronophthisis

Journal of the American Society of Nephrology, 2007-10, Vol.18 (10), p.2789-2795

2007

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Nephronophthisis and related syndromes

Current opinion in pediatrics, 2015-04, Vol.27 (2), p.201-211

Wolf, Matthias T F

2015

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Omental Arteriopathy in Primary Atypical Hemolytic Uremic Syndrome

International journal of surgical pathology, 2017-09, Vol.25 (6), p.515-517

2017

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Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD

American journal of kidney diseases, 2011-11, Vol.58 (5), p.821-825

2011

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Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

Human genetics, 2006-07, Vol.119 (6), p.649-658

2006

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Uromodulin in mineral metabolism

Current opinion in nephrology and hypertension, 2019-09, Vol.28 (5), p.481-489

2019

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Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

Pediatric nephrology (Berlin, West), 2009-01, Vol.24 (1), p.55-60

2009

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A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

American journal of human genetics, 2002-11, Vol.71 (5), p.1161-1167

2002

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Early therapy with sirolimus reduces size of a large solid renal mass but not seizure activity in an infant with tuberous sclerosis

Journal of nephrology, 2024-01, Vol.37 (1), p.203-205

2024

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Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)

The Journal of biological chemistry, 2018-10, Vol.293 (42), p.16488-16502

2018

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Mercury Intoxication as a Rare Cause of Membranous Nephropathy in a Child

American journal of kidney diseases, 2018-10, Vol.72 (4), p.601-605

2018

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Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients

Journal of the American Society of Nephrology, 2016-11, Vol.27 (11), p.3447-3458

2016

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Klotho Up-regulates Renal Calcium Channel Transient Receptor Potential Vanilloid 5 (TRPV5) by Intra- and Extracellular N-glycosylation-dependent Mechanisms

The Journal of biological chemistry, 2014-12, Vol.289 (52), p.35849-35857

2014

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Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis

Kidney international, 2013-07, Vol.84 (1), p.130-137

2013

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Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

Nephrology, dialysis, transplantation, 2005-05, Vol.20 (5), p.909-914

2005

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A rare case of hyporeninemic hypertension: Answers

A rare case of hyporeninemic hypertension: Questions

Nephronophthisis

Nephronophthisis: a pathological and genetic perspective

The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Ghrelin enhances tubular magnesium absorption in the kidney

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Evidence of oligogenic inheritance in nephronophthisis

A systematic approach to mapping recessive disease genes in individuals from outbred populations

Nephronophthisis and related syndromes

Omental Arteriopathy in Primary Atypical Hemolytic Uremic Syndrome

Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

Uromodulin in mineral metabolism

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Early therapy with sirolimus reduces size of a large solid renal mass but not seizure activity in an infant with tuberous sclerosis

Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)

Mercury Intoxication as a Rare Cause of Membranous Nephropathy in a Child

Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients

Klotho Up-regulates Renal Calcium Channel Transient Receptor Potential Vanilloid 5 (TRPV5) by Intra- and Extracellular N-glycosylation-dependent Mechanisms

Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

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