Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping - Wikidata - wikimedia - TriplyDB

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping

http://www.wikidata.org/entity/Q28291215

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Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases Identification of the roles of conserved charged residues in the extracellular domain of an epithelial sodium channel (ENaC) subunit by alanine mutagenesis Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.Mice heterozygous for beta-ENaC deletion have defective potassium excretion.Localization of the giant axonal neuropathy gene to chromosome 16q24.Mineralocorticoid receptor mutations and a severe recessive pseudohypoaldosteronism type 1.Ion channels in renal disease.The epithelial sodium channel mediates the directionality of galvanotaxis in human keratinocytes.ENaC activity is increased in isolated, split-open cortical collecting ducts from protein kinase Cα knockout mice.Blood pressure regulation via the epithelial sodium channel: from gene to kidney and beyond.Aicardi-Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?

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P2860

Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping

http://www.wikidata.org/entity/Q28291215

description

1996 nî lūn-bûn

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1996 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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1996 թվականի փետրվարին հրատարակված գիտական հոդված

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1996年の論文

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年學術文章

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name

Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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type

label

Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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prefLabel

Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

@en

Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

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Human Molecular Genetics

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Localisation of pseudohypoaldo ...... 1-pter by homozygosity mapping

@en

P2093

A Hanukoglu

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

E Chung

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

I Hanukoglu

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J Seckl

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M J Dillon

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R M Gardiner

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S S Strautnieks

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U Kuhnle

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P2860

Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor

Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism

Albright's hereditary osteodystrophy

A salt wasting syndrome in infancy

Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

SCNN1, an epithelial cell sodium channel gene in the conserved linkage group on mouse chromosome 6 and human chromosome 12

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects

Isolation and regional assignment of human chromosome 12p cDNAs

Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel

P304

293-299

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scholarly article

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10.1093/HMG/5.2.293

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P407

P433

2

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5

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Richard J. Thompson

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1996-02-01T00:00:00Z

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239280166

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8824886

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