HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. - Wikidata - wikimedia - TriplyDB

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

http://www.wikidata.org/entity/Q34658412

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CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions Ex vivo modeling of chemical synergy in prenatal kidney cystogenesis Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.Genetic causes of hypomagnesemia, a clinical overview Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.Renal malformations associated with mutations of developmental genes: messages from the clinic.Hnf-1β transcription factor is an early hif-1α-independent marker of epithelial hypoxia and controls renal repair.Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome Regulation of magnesium balance: lessons learned from human genetic disease Cystic kidney diseases: many ways to form a cyst.Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.Molecular basis of epithelial Ca2+ and Mg2+ transport: insights from the TRP channel family.The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.Genetic testing in renal disease.Nutrigenetics and prostate cancer: 2011 and beyond.Genetics of human congenital urinary bladder disease.Inherited disorders of renal hypomagnesaemia.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.HNF1B-associated clinical phenotypes: the kidney and beyond.Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.Inherited and acquired disorders of magnesium homeostasis.Renal development in the fetus and premature infant.Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease.Corticosteroid-induced kidney dysmorphogenesis is associated with deregulated expression of known cystogenic molecules, as well as Indian hedgehog.Genetic basis of human congenital anomalies of the kidney and urinary tract.Genetics of Magnesium Disorders.Salt-Losing Tubulopathies in Children: What's New, What's Controversial?Diagnostic strategy for inherited hypomagnesemia.Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg(2+) handling.Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.Hepatocyte Nuclear Factor-1β Regulates Urinary Concentration and Response to Hypertonicity.

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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

http://www.wikidata.org/entity/Q34658412

description

2009 nî lūn-bûn

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2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2009 թվականի ապրիլին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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type

label

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

@ast

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

@en

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

@nl

prefLabel

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

@ast

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

@en

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

@nl

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Journal of the American Society of Nephrology

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HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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Andrea Wirsing

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Coralie Bingham

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Detlef Bockenhauer

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Emma L Edghill

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Gerhart U Ryffel

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Harjeeta K Dhillon

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Horia Stanescu

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Imran Mushtaq

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Janette Cansick

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Karen A Johnstone

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P2860

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

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

Insights into the molecular nature of magnesium homeostasis

Distribution and oligomeric association of splice forms of Na(+)-K(+)-ATPase regulatory gamma-subunit in rat kidney

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

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10.1681/ASN.2008060633

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5

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20

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Rukshana Shroff

Adrian S. Woolf

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2009-04-23T00:00:00Z

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