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CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia

American journal of human genetics, 2011-03, Vol.88 (3), p.333-343

2011

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Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis

Proceedings of the National Academy of Sciences - PNAS, 2012-08, Vol.109 (35), p.14241-14246

2012

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Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2)

The Journal of biological chemistry, 2012-04, Vol.287 (17), p.13644-13655

2012

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Disturbed function of the blood–cerebrospinal fluid barrier aggravates neuro-inflammation

Acta neuropathologica, 2014-08, Vol.128 (2), p.267-277

2014

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L1 retrotransposition can occur early in human embryonic development

Human molecular genetics, 2007-07, Vol.16 (13), p.1587-1592

2007

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Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function

Journal of cell science, 2009-05, Vol.122 (10), p.1507-1517

2009

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Unusual Clinical Presentation and Possible Rescue of a Novel Claudin-16 Mutation

The journal of clinical endocrinology and metabolism, 2006-08, Vol.91 (8), p.3076-3079

2006

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Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting

American journal of physiology. Renal physiology, 2010-05, Vol.298 (5), p.F1152-F1161

2010

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A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting

American journal of human genetics, 2003-12, Vol.73 (6), p.1293-1301

2003

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail

Human molecular genetics, 2006-04, Vol.15 (7), p.1049-1058

2006

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Dominant isolated renal magnesium loss is caused by misrouting of the Na + ,K + -ATPase γ-subunit

Nature genetics, 2000-11, Vol.26 (3), p.265-266

2000

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Dominant Isolated Renal Magnesium Loss Is Caused by Misrouting of the Na+,K+-ATPase γ-Subunit

Annals of the New York Academy of Sciences, 2003-04, Vol.986 (1), p.437-443

2003

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Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss

Nephrology, dialysis, transplantation, 2003-03, Vol.18 (3), p.512-516

2003

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Genetic disorders of magnesium homeostasis

Biometals, 2002-09, Vol.15 (3), p.297-307

2002

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Genetic renal disorders with hypomagnesemia and hypocalciuria

Journal of nephrology, 2003-03, Vol.16 (2), p.293-296

2003

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Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca^sup 2+^ and Mg^sup 2+^ wasting

American journal of physiology. Renal physiology, 2010-05, Vol.298 (5), p.F1152

2010

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Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca 2+ and Mg 2+ wasting

American journal of physiology. Renal physiology, 2010-05, Vol.298 (5), p.F1152-F1161

2010

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Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting

American journal of physiology. Renal physiology, 2010, Vol.67 (5)

2010

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CNNM2, Encoding a Basolateral Protein Required for Renal Mg^sup 2+^ Handling, Is Mutated in Dominant Hypomagnesemia

American journal of human genetics, 2011-03, Vol.88 (3), p.333

2011

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CNNM2, Encoding a Basolateral Protein Required for Renal Mg super(2+) Handling, Is Mutated in Dominant Hypomagnesemia

American journal of human genetics, 2011-03, Vol.88 (3), p.333-343

2011

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CNNM2, Encoding a Basolateral Protein Required for Renal Mg 2+ Handling, Is Mutated in Dominant Hypomagnesemia

American journal of human genetics, 2011, Vol.88 (3), p.333-343

2011

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Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

American journal of human genetics, 1999, Vol.64 (1), p.180-188

1999

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Genetic disorders of magnesium homeostasis

Biometals, 2002-09, Vol.15 (3), p.297-306

2002

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Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase [gamma]-subunit

Nature genetics, 2000-11, Vol.26 (3), p.265

2000

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EUNEFRON, the European Network for the Study of Orphan Nephropathies

Nephrology, dialysis, transplantation, 2009-07, Vol.24 (7), p.2011-2015

2009

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CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia

Deletion of claudin-10 (Cldn10) in the thick ascending limb impairs paracellular sodium permeability and leads to hypermagnesemia and nephrocalcinosis

Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2)

Disturbed function of the blood–cerebrospinal fluid barrier aggravates neuro-inflammation

L1 retrotransposition can occur early in human embryonic development

Claudin-10 exists in six alternatively spliced isoforms that exhibit distinct localization and function

Unusual Clinical Presentation and Possible Rescue of a Novel Claudin-16 Mutation

Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting

A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail

Dominant isolated renal magnesium loss is caused by misrouting of the Na + ,K + -ATPase γ-subunit

Dominant Isolated Renal Magnesium Loss Is Caused by Misrouting of the Na+,K+-ATPase γ-Subunit

Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg2+ loss

Genetic disorders of magnesium homeostasis

Genetic renal disorders with hypomagnesemia and hypocalciuria

Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca^sup 2+^ and Mg^sup 2+^ wasting

Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca 2+ and Mg 2+ wasting

Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting

CNNM2, Encoding a Basolateral Protein Required for Renal Mg^sup 2+^ Handling, Is Mutated in Dominant Hypomagnesemia

CNNM2, Encoding a Basolateral Protein Required for Renal Mg super(2+) Handling, Is Mutated in Dominant Hypomagnesemia

CNNM2, Encoding a Basolateral Protein Required for Renal Mg 2+ Handling, Is Mutated in Dominant Hypomagnesemia

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Genetic disorders of magnesium homeostasis

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase [gamma]-subunit

EUNEFRON, the European Network for the Study of Orphan Nephropathies

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