Genetics of Magnesium Disorders.

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Novel Aspects of Renal Magnesium Homeostasis.

P2860

Q52568181-01642DE1-AFE0-4A76-9474-9A7CCBFE3BEF

P2860

Genetics of Magnesium Disorders.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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name

Genetics of Magnesium Disorders.

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Genetics of Magnesium Disorders.

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Item

label

Genetics of Magnesium Disorders.

@en

Genetics of Magnesium Disorders.

@nl

prefLabel

Genetics of Magnesium Disorders.

@en

Genetics of Magnesium Disorders.

@nl

P1476

Genetics of Magnesium Disorders.

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P2093

Goushuang Xu

http://www.w3.org/2001/XMLSchema#string

Hanmin Wang

http://www.w3.org/2001/XMLSchema#string

Heng Li

http://www.w3.org/2001/XMLSchema#string

Jianghua Chen

http://www.w3.org/2001/XMLSchema#string

Qi Qian

http://www.w3.org/2001/XMLSchema#string

Shiren Sun

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P2860

Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia

Claudin-14 regulates renal Ca⁺⁺ transport in response to CaSR signalling via a novel microRNA pathway

A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

Ankyrin-3 is a novel binding partner of the voltage-gated potassium channel Kv1.1 implicated in renal magnesium handling

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

P304

85-97

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P31

scholarly article

P356

10.1159/000477730

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2017-07-05T00:00:00Z

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P698

29344503

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P921

Béésh Łikoní

P932

5757602

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Genetics of Magnesium Disorders.

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P2860

P2860

Genetics of Magnesium Disorders.

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P932