SCNN1B

SCNN1B

Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome), also known as SCNN1B, is a human gene.cite web | title = Entrez Gene: SCNN1B sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6338| accessdate = ]

PBB_Summary
section_title =
summary_text =

ee also

* Epithelial sodium channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Alvarez de la Rosa D, Canessa CM, Fyfe GK, Zhang P |title=Structure and regulation of amiloride-sensitive sodium channels. |journal=Annu. Rev. Physiol. |volume=62 |issue= |pages= 573–94 |year= 2000 |pmid= 10845103 |doi= 10.1146/annurev.physiol.62.1.573
*cite journal | author=Rossier BC, Pradervand S, Schild L, Hummler E |title=Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors. |journal=Annu. Rev. Physiol. |volume=64 |issue= |pages= 877–97 |year= 2002 |pmid= 11826291 |doi= 10.1146/annurev.physiol.64.082101.143243
*cite journal | author=Peters KW, Qi J, Johnson JP, "et al." |title=Role of snare proteins in CFTR and ENaC trafficking. |journal=Pflugers Arch. |volume=443 Suppl 1 |issue= |pages= S65–9 |year= 2002 |pmid= 11845306 |doi= 10.1007/s004240100647
*cite journal | author=Edelheit O, Hanukoglu I, Gizewska M, "et al." |title=Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. |journal=Clin. Endocrinol. (Oxf) |volume=62 |issue= 5 |pages= 547–53 |year= 2005 |pmid= 15853823 |doi= 10.1111/j.1365-2265.2005.02255.x
*cite journal | author=Voilley N, Bassilana F, Mignon C, "et al." |title=Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. |journal=Genomics |volume=28 |issue= 3 |pages= 560–5 |year= 1996 |pmid= 7490094 |doi= 10.1006/geno.1995.1188
*cite journal | author=Waldmann R, Champigny G, Bassilana F, "et al." |title=Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel. |journal=J. Biol. Chem. |volume=270 |issue= 46 |pages= 27411–4 |year= 1996 |pmid= 7499195 |doi=
*cite journal | author=Hansson JH, Nelson-Williams C, Suzuki H, "et al." |title=Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. |journal=Nat. Genet. |volume=11 |issue= 1 |pages= 76–82 |year= 1995 |pmid= 7550319 |doi= 10.1038/ng0995-76
*cite journal | author=McDonald FJ, Price MP, Snyder PM, Welsh MJ |title=Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel. |journal=Am. J. Physiol. |volume=268 |issue= 5 Pt 1 |pages= C1157–63 |year= 1995 |pmid= 7762608 |doi=
*cite journal | author=Shimkets RA, Warnock DG, Bositis CM, "et al." |title=Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. |journal=Cell |volume=79 |issue= 3 |pages= 407–14 |year= 1994 |pmid= 7954808 |doi=
*cite journal | author=Snyder PM, Price MP, McDonald FJ, "et al." |title=Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. |journal=Cell |volume=83 |issue= 6 |pages= 969–78 |year= 1996 |pmid= 8521520 |doi=
*cite journal | author=Hansson JH, Schild L, Lu Y, "et al." |title=A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 25 |pages= 11495–9 |year= 1996 |pmid= 8524790 |doi=
*cite journal | author=Chang SS, Grunder S, Hanukoglu A, "et al." |title=Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. |journal=Nat. Genet. |volume=12 |issue= 3 |pages= 248–53 |year= 1996 |pmid= 8589714 |doi= 10.1038/ng0396-248
*cite journal | author=Tamura H, Schild L, Enomoto N, "et al." |title=Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. |journal=J. Clin. Invest. |volume=97 |issue= 7 |pages= 1780–4 |year= 1996 |pmid= 8601645 |doi=
*cite journal | author=Firsov D, Schild L, Gautschi I, "et al." |title=Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=93 |issue= 26 |pages= 15370–5 |year= 1997 |pmid= 8986818 |doi=
*cite journal | author=Gründer S, Firsov D, Chang SS, "et al." |title=A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. |journal=EMBO J. |volume=16 |issue= 5 |pages= 899–907 |year= 1997 |pmid= 9118951 |doi= 10.1093/emboj/16.5.899
*cite journal | author=Pirozzi G, McConnell SJ, Uveges AJ, "et al." |title=Identification of novel human WW domain-containing proteins by cloning of ligand targets. |journal=J. Biol. Chem. |volume=272 |issue= 23 |pages= 14611–6 |year= 1997 |pmid= 9169421 |doi=
*cite journal | author=Inoue J, Iwaoka T, Tokunaga H, "et al." |title=A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 6 |pages= 2210–3 |year= 1998 |pmid= 9626162 |doi=
*cite journal | author=Persu A, Barbry P, Bassilana F, "et al." |title=Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension. |journal=Hypertension |volume=32 |issue= 1 |pages= 129–37 |year= 1998 |pmid= 9674649 |doi=
*cite journal | author=Uehara Y, Sasaguri M, Kinoshita A, "et al." |title=Genetic analysis of the epithelial sodium channel in Liddle's syndrome. |journal=J. Hypertens. |volume=16 |issue= 8 |pages= 1131–5 |year= 1998 |pmid= 9794716 |doi=
*cite journal | author=Saxena A, Hanukoglu I, Strautnieks SS, "et al." |title=Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit. |journal=Biochem. Biophys. Res. Commun. |volume=252 |issue= 1 |pages= 208–13 |year= 1998 |pmid= 9813171 |doi= 10.1006/bbrc.1998.9625

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or …   Wikipedia

  • Neuromyotonia — Classification and external resources ICD 10 G71.1 ICD 9 333.90 …   Wikipedia

  • Cystic fibrosis — Classification and external resources A breathing treatment for cystic fibrosis, using a mask nebuliser and a ThAIRapy Vest ICD 10 E …   Wikipedia

  • Osteopetrosis — (Malignant) Classification and external resources X ray of the pelvis of a patient with osteopetrosis, adult onset form (Albers Schonberg disease). Note the dense bones. ICD …   Wikipedia

  • Arrhythmogenic right ventricular dysplasia — Classification and external resources Photomicrograph of an ARVC heart. ICD 10 I …   Wikipedia

  • Congenital insensitivity to pain — Classification and external resources OMIM 243000 147430 DiseasesDB 31214 …   Wikipedia

  • Malignant hyperthermia — Classification and external resources Abnormalities in the Ryanodine receptor 1 gene are commonly detected in malignant hyperthermia ICD 10 T …   Wikipedia

  • Erythromelalgia — Classification and external resources Erythromelalgia in a 77 year old woman with longstanding polycythemia vera. ICD 10 I …   Wikipedia

  • Jervell and Lange-Nielsen syndrome — Classification and external resources ICD 9 426.82 OMIM 220400 DiseasesDB …   Wikipedia

  • Channelopathy — Classification and external resources MeSH D053447 Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.[1] These diseases may …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”