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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796.
J Med Genet. 2002.
PMID: 12414817
Free PMC article.
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.
Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE.
Borthwick KJ, et al.
J Med Genet. 2003 Feb;40(2):115-21. doi: 10.1136/jmg.40.2.115.
J Med Genet. 2003.
PMID: 12566520
Free PMC article.
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Inherited disorders of the H+-ATPase.
Borthwick KJ, Karet FE.
Borthwick KJ, et al.
Curr Opin Nephrol Hypertens. 2002 Sep;11(5):563-8. doi: 10.1097/00041552-200209000-00013.
Curr Opin Nephrol Hypertens. 2002.
PMID: 12187322
Review.
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Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis.
Smith AN, Borthwick KJ, Karet FE.
Smith AN, et al. Among authors: borthwick kj.
Gene. 2002 Sep 4;297(1-2):169-77. doi: 10.1016/s0378-1119(02)00884-3.
Gene. 2002.
PMID: 12384298
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V1 and V0 domains of the human H+-ATPase are linked by an interaction between the G and a subunits.
Norgett EE, Borthwick KJ, Al-Lamki RS, Su Y, Smith AN, Karet FE.
Norgett EE, et al. Among authors: borthwick kj.
J Biol Chem. 2007 May 11;282(19):14421-7. doi: 10.1074/jbc.M701226200. Epub 2007 Mar 14.
J Biol Chem. 2007.
PMID: 17360703
Free article.
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Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.
Smith AN, Jouret F, Bord S, Borthwick KJ, Al-Lamki RS, Wagner CA, Ireland DC, Cormier-Daire V, Frattini A, Villa A, Kornak U, Devuyst O, Karet FE.
Smith AN, et al. Among authors: borthwick kj.
J Am Soc Nephrol. 2005 May;16(5):1245-56. doi: 10.1681/ASN.2004090761. Epub 2005 Mar 30.
J Am Soc Nephrol. 2005.
PMID: 15800125
Free article.
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The HPV16 E6 binding protein Tip-1 interacts with ARHGEF16, which activates Cdc42.
Oliver AW, He X, Borthwick K, Donne AJ, Hampson L, Hampson IN.
Oliver AW, et al.
Br J Cancer. 2011 Jan 18;104(2):324-31. doi: 10.1038/sj.bjc.6606026. Epub 2010 Dec 7.
Br J Cancer. 2011.
PMID: 21139582
Free PMC article.
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