Lohi H - Search Results

1

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

Kaukonen M, Pettinen IT, Wickström K, Arumilli M, Donner J, Juhola IJ, Holopainen S, Turunen JA, Yoshihara M, Kere J, Lohi H. Kaukonen M, et al. Among authors: lohi h. Hum Genet. 2021 Nov;140(11):1569-1579. doi: 10.1007/s00439-021-02266-3. Epub 2021 Feb 19. Hum Genet. 2021. PMID: 33606121 Free PMC article.

2

Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.

Kere J, Lohi H, Höglund P. Kere J, et al. Among authors: lohi h. Am J Physiol. 1999 Jan;276(1):G7-G13. doi: 10.1152/ajpgi.1999.276.1.G7. Am J Physiol. 1999. PMID: 9886972 Review.

3

Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.

Lohi H, Kujala M, Kerkelä E, Saarialho-Kere U, Kestilä M, Kere J. Lohi H, et al. Genomics. 2000 Nov 15;70(1):102-12. doi: 10.1006/geno.2000.6355. Genomics. 2000. PMID: 11087667

4

Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9.

Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J. Lohi H, et al. J Biol Chem. 2002 Apr 19;277(16):14246-54. doi: 10.1074/jbc.M111802200. Epub 2002 Feb 7. J Biol Chem. 2002. PMID: 11834742 Free article.

5

Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis.

Lohi H, Mäkelä S, Pulkkinen K, Höglund P, Karjalainen-Lindsberg ML, Puolakkainen P, Kere J. Lohi H, et al. Am J Physiol Gastrointest Liver Physiol. 2002 Sep;283(3):G567-75. doi: 10.1152/ajpgi.00356.2001. Am J Physiol Gastrointest Liver Physiol. 2002. PMID: 12181169 Free article.

6

Isoforms of SLC26A6 mediate anion transport and have functional PDZ interaction domains.

Lohi H, Lamprecht G, Markovich D, Heil A, Kujala M, Seidler U, Kere J. Lohi H, et al. Am J Physiol Cell Physiol. 2003 Mar;284(3):C769-79. doi: 10.1152/ajpcell.00270.2002. Epub 2002 Nov 20. Am J Physiol Cell Physiol. 2003. PMID: 12444019 Free article.

7

SLC26A6 and SLC26A7 anion exchangers have a distinct distribution in human kidney.

Kujala M, Tienari J, Lohi H, Elomaa O, Sariola H, Lehtonen E, Kere J. Kujala M, et al. Among authors: lohi h. Nephron Exp Nephrol. 2005;101(2):e50-8. doi: 10.1159/000086345. Epub 2005 Jun 14. Nephron Exp Nephrol. 2005. PMID: 15956810

8

Assessment of the functionality of genome-wide canine SNP arrays and implications for canine disease association studies.

Ke X, Kennedy LJ, Short AD, Seppälä EH, Barnes A, Clements DN, Wood SH, Carter SD, Happ GM, Lohi H, Ollier WE. Ke X, et al. Among authors: lohi h. Anim Genet. 2011 Apr;42(2):181-90. doi: 10.1111/j.1365-2052.2010.02132.x. Epub 2010 Nov 11. Anim Genet. 2011. PMID: 21070295

9

Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).

Zangerl B, Wickström K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Guziewicz KE, Aguirre GD. Zangerl B, et al. Among authors: lohi h. Mol Vis. 2010 Dec 16;16:2791-804. Mol Vis. 2010. PMID: 21197113 Free PMC article.

10

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.

Hytönen MK, Arumilli M, Lappalainen AK, Kallio H, Snellman M, Sainio K, Lohi H. Hytönen MK, et al. Among authors: lohi h. PLoS One. 2012;7(7):e40281. doi: 10.1371/journal.pone.0040281. Epub 2012 Jul 5. PLoS One. 2012. PMID: 22815736 Free PMC article.

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