Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. - Wikidata - awgldk - TriplyDB

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

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Genetic causes of hypomagnesemia, a clinical overview Renal control of calcium, phosphate, and magnesium homeostasis Interactions with the bifunctional interface of the transcriptional coactivator DCoH1 are kinetically regulated.Predicting diabetes mellitus genes via protein-protein interaction and protein subcellular localization information.Inherited disorders of renal hypomagnesaemia.HNF1B-associated clinical phenotypes: the kidney and beyond.Monoamine neurotransmitter disorders--clinical advances and future perspectives.Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.Inherited and acquired disorders of magnesium homeostasis.The complete European guidelines on phenylketonuria: diagnosis and treatment.Genetics of Magnesium Disorders.Diagnostic strategy for inherited hypomagnesemia.Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.Renal Mg handling, FXYD2 and the central role of the Na,K-ATPase

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Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

http://www.wikidata.org/entity/Q37604723

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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2013年學術文章

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name

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

@en

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

@nl

type

label

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

@en

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

@nl

prefLabel

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

@en

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

@nl

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Journal of the American Society of Nephrology

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Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting

@en

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Femke van Zeeland

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Johannis B C de Klerk

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Joost G J Hoenderop

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Leo A J Kluijtmans

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Marla Lavrijsen

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Patrick Ferreira

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René J M Bindels

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Roger Germann

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NIH Image to ImageJ: 25 years of image analysis

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity

HNF-1beta regulates transcription of the PKD modifier gene Kif12

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism

Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha

Crystal structure of DCoH, a bifunctional, protein-binding transcriptional coactivator

WHAT IF: a molecular modeling and drug design program

Three-dimensional structure of the bifunctional protein PCD/DCoH, a cytoplasmic enzyme interacting with transcription factor HNF1

Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein

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574-586

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scholarly article

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10.1681/ASN.2013040337

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3

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25

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Hanka Venselaar

Jeroen H F de Baaij

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2013-11-07T00:00:00Z

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24204001

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Béésh Łikoní

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3935582

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