Wed . 19 Jun 2019

Pendrin

pendrin b intercalated cells, pendrin antibody immunofluorescence
NM_000441

NM_011867

RefSeq protein

NP_000432

NP_035997

Location UCSC Chr 7: 10766 – 10772 Mb Chr 12: 3152 – 3156 Mb PubMed search Wikidata
  • ^ a b c GRCh38: Ensembl release 89: ENSG00000091137 - Ensembl, May 2017
  • ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020651 - Ensembl, May 2017
  • ^ "Human PubMed Reference:" 
  • ^ "Mouse PubMed Reference:" 
  • ^ a b "Entrez Gene: SLC26A4 solute carrier family 26, member 4" 
  • ^ Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED December 1997 "Pendred syndrome is caused by mutations in a putative sulphate transporter gene PDS" Nature Genetics 17 4: 411–22 doi:101038/ng1297-411 PMID 9398842 
  • ^ Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP April 1999 "The Pendred syndrome gene encodes a chloride-iodide transport protein" Nature Genetics 21 4: 440–3 doi:101038/7783 PMID 10192399 
  • ^ Scott DA, Karniski LP January 2000 "Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange" American Journal of Physiology Cell Physiology 278 1: C207–11 doi:101152/ajpcell20002781c207 PMID 10644529 
  • ^ Soleimani M, Greeley T, Petrovic S, Wang Z, Amlal H, Kopp P, Burnham CE February 2001 "Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex" American Journal of Physiology Renal Physiology 280 2: F356–64 doi:101152/ajprenal20012802f356 PMID 11208611 
  • ^ Patterson C, Runge MS 2006 Principles of molecular medicine Totowa, NJ: Humana Press p 957 ISBN 1-58829-202-9 
  • ^ Bizhanova A, Kopp P 2011-01-01 "Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells" Cellular Physiology and Biochemistry 28 3: 485–90 doi:101159/000335103 PMID 22116361 
  • ^ Karniski LP, Aronson PS September 1985 "Chloride/formate exchange with formic acid recycling: a mechanism of active chloride transport across epithelial membranes" Proceedings of the National Academy of Sciences of the United States of America 82 18: 6362–5 doi:101073/pnas82186362 PMC 391054  PMID 3862136 
  • ^ Kim HM, Wangemann P November 2010 "Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression" PLoS One 5 11: e14041 doi:101371/journalpone0014041 PMC 2984494  PMID 21103348 
  • ^ Wangemann P, Nakaya K, Wu T, Maganti RJ, Itza EM, Sanneman JD, Harbidge DG, Billings S, Marcus DC May 2007 "Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model" American Journal of Physiology Renal Physiology 292 5: F1345–53 doi:101152/ajprenal004872006 PMC 2020516  PMID 17299139 
  • ^ Wall SM 2006 "The renal physiology of pendrin SLC26A4 and its role in hypertension" Novartis Foundation Symposium Novartis Foundation Symposia 273: 231–9; discussion 239–43, 261–4 doi:101002/0470029579ch15 ISBN 978-0-470-02957-2 PMID 17120771 
  • ^ Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED March 2001 "Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion" Proceedings of the National Academy of Sciences of the United States of America 98 7: 4221–6 doi:101073/pnas071516798 PMC 31206  PMID 11274445 
  • ^ Pela I, Bigozzi M, Bianchi B June 2008 "Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome" Clinical Nephrology 69 6: 450–3 doi:105414/cnp69450 PMID 18538122 
  • ^ Kuperman DA, Lewis CC, Woodruff PG, Rodriguez MW, Yang YH, Dolganov GM, Fahy JV, Erle DJ August 2005 "Dissecting asthma using focused transgenic modeling and functional genomics" The Journal of Allergy and Clinical Immunology 116 2: 305–11 doi:101016/jjaci200503024 PMID 16083784 
  • ^ Zhen G, Park SW, Nguyenvu LT, Rodriguez MW, Barbeau R, Paquet AC, Erle DJ February 2007 "IL-13 and epidermal growth factor receptor have critical but distinct roles in epithelial cell mucin production" American Journal of Respiratory Cell and Molecular Biology 36 2: 244–53 doi:101165/rcmb2006-0180OC PMC 1899314  PMID 16980555 
  • ^ Pedemonte N, Caci E, Sondo E, Caputo A, Rhoden K, Pfeffer U, Di Candia M, Bandettini R, Ravazzolo R, Zegarra-Moran O, Galietta LJ April 2007 "Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels" Journal of Immunology 178 8: 5144–53 doi:104049/jimmunol17885144 PMID 17404297 
  • ^ Nakao I, Kanaji S, Ohta S, Matsushita H, Arima K, Yuyama N, Yamaya M, Nakayama K, Kubo H, Watanabe M, Sagara H, Sugiyama K, Tanaka H, Toda S, Hayashi H, Inoue H, Hoshino T, Shiraki A, Inoue M, Suzuki K, Aizawa H, Okinami S, Nagai H, Hasegawa M, Fukuda T, Green ED, Izuhara K May 2008 "Identification of pendrin as a common mediator for mucus production in bronchial asthma and chronic obstructive pulmonary disease" Journal of Immunology 180 9: 6262–9 doi:104049/jimmunol18096262 PMID 18424749 
  • ^ Nakagami Y, Favoreto S, Zhen G, Park SW, Nguyenvu LT, Kuperman DA, Dolganov GM, Huang X, Boushey HA, Avila PC, Erle DJ August 2008 "The epithelial anion transporter pendrin is induced by allergy and rhinovirus infection, regulates airway surface liquid, and increases airway reactivity and inflammation in an asthma model" Journal of Immunology 181 3: 2203–10 doi:104049/jimmunol18132203 PMC 2491716  PMID 18641360 
  • Further reading

    • Markovich D October 2001 "Physiological roles and regulation of mammalian sulfate transporters" Physiological Reviews 81 4: 1499–533 PMID 11581495 
    • Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonné-Tamir B September 1995 "Linkage of congenital, recessive deafness DFNB4 to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population" Human Molecular Genetics 4 9: 1637–42 doi:101093/hmg/491637 PMID 8541853 
    • Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R April 1996 "Pendred syndrome goitre and sensorineural hearing loss maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4" Nature Genetics 12 4: 421–3 doi:101038/ng0496-421 PMID 8630497 
    • Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B April 1996 "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification" Nature Genetics 12 4: 424–6 doi:101038/ng0496-424 PMID 8630498 
    • Gausden E, Armour JA, Coyle B, Coffey R, Hochberg Z, Pembrey M, Britton KE, Grossman A, Reardon W, Trembath R April 1996 "Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome" Clinical Endocrinology 44 4: 441–6 doi:101046/j1365-22651996714536x PMID 8706311 
    • Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Agtmael T, Smith RJ, Parving A, Bolder CH, Cremers CW, Willems PJ February 1997 "The gene for Pendred syndrome is located between D7S501 and D7S692 in a 17-cM region on chromosome 7q" Genomics 40 1: 48–54 doi:101006/geno19964541 PMID 9070918 
    • Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER March 1998 "A mutation in PDS causes non-syndromic recessive deafness" Nature Genetics 18 3: 215–7 doi:101038/ng0398-215 PMID 9500541 
    • Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G July 1998 "Two frequent missense mutations in Pendred syndrome" Human Molecular Genetics 7 7: 1099–104 doi:101093/hmg/771099 PMID 9618166 
    • Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC July 1998 "Molecular analysis of the PDS gene in Pendred syndrome" Human Molecular Genetics 7 7: 1105–12 doi:101093/hmg/771105 PMID 9618167 
    • Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ February 1999 "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations" Human Genetics 104 2: 188–92 doi:101007/s004390050933 PMID 10190331 
    • Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H January 2000 "Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation" American Journal of Medical Genetics 90 1: 38–44 doi:101002/SICI1096-86282000010390:1<38::AID-AJMG8>30CO;2-R PMID 10602116 
    • Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD February 2000 "Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene" QJM 93 2: 99–104 doi:101093/qjmed/93299 PMID 10700480 
    • Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L March 2000 "A novel mutation in the pendrin gene associated with Pendred's syndrome" Clinical Endocrinology 52 3: 279–85 doi:101046/j1365-2265200000930x PMID 10718825 
    • Bidart JM, Mian C, Lazar V, Russo D, Filetti S, Caillou B, Schlumberger M May 2000 "Expression of pendrin and the Pendred syndrome PDS gene in human thyroid tissues" The Journal of Clinical Endocrinology and Metabolism 85 5: 2028–33 doi:101210/jc8552028 PMID 10843192 
    • Adato A, Raskin L, Petit C, Bonne-Tamir B June 2000 "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus" European Journal of Human Genetics 8 6: 437–42 doi:101038/sjejhg5200489 PMID 10878664 
    • Lohi H, Kujala M, Kerkelä E, Saarialho-Kere U, Kestilä M, Kere J November 2000 "Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger" Genomics 70 1: 102–12 doi:101006/geno20006355 PMID 11087667 
    • Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ May 2001 "Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations" Human Mutation 17 5: 403–11 doi:101002/humu1116 PMID 11317356 

    External links

    • GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
    • Description at otowustledu
    • SLC26A4 protein, human at the US National Library of Medicine Medical Subject Headings MeSH

    pendrin, pendrin anion transporter, pendrin antibody immunofluorescence, pendrin b intercalated cells, pendrin channel, pendrin function, pendrin gene, pendrin iodine, pendrin mutation, pendrin proteins


    Pendrin Information about

    Pendrin


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      Pendrin beatiful post thanks!

      29.10.2014


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