[cite web | title = Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83959| accessdate = ] ] PBB_Summary
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ee also
* Solute carrier family
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Callaghan M, Hand CK, Kennedy SM, "et al." |title=Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. |journal=The British journal of ophthalmology |volume=83 |issue= 1 |pages= 115–9 |year= 1999 |pmid= 10209448 |doi=
*cite journal | author=Hand CK, Harmon DL, Kennedy SM, "et al." |title=Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. |journal=Genomics |volume=61 |issue= 1 |pages= 1–4 |year= 1999 |pmid= 10512674 |doi= 10.1006/geno.1999.5920
*cite journal | author=Luong A, Hannah VC, Brown MS, Goldstein JL |title=Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins. |journal=J. Biol. Chem. |volume=275 |issue= 34 |pages= 26458–66 |year= 2000 |pmid= 10843999 |doi= 10.1074/jbc.M004160200
*cite journal | author=Parker MD, Ourmozdi EP, Tanner MJ |title=Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney. |journal=Biochem. Biophys. Res. Commun. |volume=282 |issue= 5 |pages= 1103–9 |year= 2001 |pmid= 11302728 |doi= 10.1006/bbrc.2001.4692
*cite journal | author=Deloukas P, Matthews LH, Ashurst J, "et al." |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Moroi SE, Gokhale PA, Schteingart MT, "et al." |title=Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. |journal=Am. J. Ophthalmol. |volume=135 |issue= 4 |pages= 461–70 |year= 2003 |pmid= 12654361 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Park M, Li Q, Shcheynikov N, "et al." |title=NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation. |journal=Mol. Cell |volume=16 |issue= 3 |pages= 331–41 |year= 2004 |pmid= 15525507 |doi= 10.1016/j.molcel.2004.09.030
*cite journal | author=Vithana EN, Morgan P, Sundaresan P, "et al." |title=Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). |journal=Nat. Genet. |volume=38 |issue= 7 |pages= 755–7 |year= 2006 |pmid= 16767101 |doi= 10.1038/ng1824
*cite journal | author=Jiao X, Sultana A, Garg P, "et al." |title=Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. |journal=J. Med. Genet. |volume=44 |issue= 1 |pages= 64–8 |year= 2007 |pmid= 16825429 |doi= 10.1136/jmg.2006.044644
*cite journal | author=Desir J, Moya G, Reish O, "et al." |title=Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. |journal=J. Med. Genet. |volume=44 |issue= 5 |pages= 322–6 |year= 2007 |pmid= 17220209 |doi= 10.1136/jmg.2006.046904
*cite journal | author=Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS |title=Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11. |journal=Mol. Vis. |volume=13 |issue= |pages= 39–46 |year= 2007 |pmid= 17262014 |doi=
*cite journal | author=Ramprasad VL, Ebenezer ND, Aung T, "et al." |title=Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 522–3 |year= 2007 |pmid= 17397048 |doi= 10.1002/humu.9487
*cite journal | author=Aldave AJ, Yellore VS, Bourla N, "et al." |title=Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. |journal=Cornea |volume=26 |issue= 7 |pages= 896–900 |year= 2007 |pmid= 17667634 |doi= 10.1097/ICO.0b013e318074bb01
*cite journal | author=Sultana A, Garg P, Ramamurthy B, "et al." |title=Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. |journal=Mol. Vis. |volume=13 |issue= |pages= 1327–32 |year= 2007 |pmid= 17679935 |doi=
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