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1 - 25 of 94 results for uniprot:P09848 in Computationally mapped citations

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The C/C(-13910) and G/G(-22018) genotypes for adult-type hypolactasia are not associated with inflammatory bowel disease.

Buning C., Ockenga J., Kruger S., Jurga J., Baier P., Dignass A., Vogel A., Strassburg C., Weltrich R., Genschel J. et al.

Scand. J. Gastroenterol. 38:538-542(2003) GAD 129477 GeneRIF 3938 · Mapped (1)
Not Associated with IMMUNE: Crohn's disease; ulcerative colitis; GAD 129477 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population.

Rasinpera H., Forsblom C., Enattah N.S., Halonen P., Salo K., Victorzon M., Mecklin J.P., Jarvinen H., Enholm S., Sellick G. et al.

Gut 54:643-647(2005) GAD 129483 GeneRIF 3938 · Mapped (1)
Associated with CANCER: colorectal cancer; GAD 129483 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance: a matter of age?

Kerber M., Oberkanins C., Kriegshauser G., Kollerits B., Dossenbach-Glaninger A., Fuchs D., Ledochowski M.

Clin. Chim. Acta 383:91-96(2007) GAD 150659 GeneRIF 3938 · Mapped (1)
Associated with METABOLIC: lactose intolerance; GAD 150659 Observational study of gene-disease association and genetic testing. (HuGE Navigator) GeneRIF 3938

The prosequence of human lactase-phlorizin hydrolase modulates the folding of the mature enzyme.

Jacob R., Peters K., Naim H.Y.

J. Biol. Chem. 277:8217-8225(2002) GeneRIF 3938 · Mapped (1)
These data clearly demonstrate that the proregion of pro-LPH is an intramolecular chaperone that is critically essential in facilitating the folding of the intermediate form LPH beta(initial) in the context of the pro-LPH polypeptide. GeneRIF 3938

Physical interaction between GATA-5 and hepatocyte nuclear factor-1alpha results in synergistic activation of the human lactase-phlorizin hydrolase promoter.

van Wering H.M., Huibregtse I.L., van der Zwan S.M., de Bie M.S., Dowling L.N., Boudreau F., Rings E.H., Grand R.J., Krasinski S.D.

J. Biol. Chem. 277:27659-27667(2002) GeneRIF 3938 · Mapped (21)
demonstrate that GATA-5 and HNF-1alpha physically associate both in vivo and in vitro and that this interaction is necessary for cooperative activation of the lactase-phlorizin hydrolase promoter GeneRIF 3938

Novel interaction at the Cdx-2 binding sites of the lactase-phlorizin hydrolase promoter.

van Wering H.M., Moyer L., Grand R.J., Krasinski S.D.

Biochem. Biophys. Res. Commun. 299:587-593(2002) GeneRIF 3938 · Mapped (1)
Results suggest that repression of lactase-phlorizin hydrolase (LPH) gene expression is released in cells that synthesize Cdx-2 such as those in the intestinal epithelium. GeneRIF 3938

Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia.

Kuokkanen M., Enattah N.S., Oksanen A., Savilahti E., Orpana A., Jarvela I.

Gut 52:647-652(2003) GeneRIF 3938 GAD 129472 · Mapped (1)
Associated with OTHER: adult-type hypolactasia; GAD 129472 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.

Olds L.C., Sibley E.

Hum. Mol. Genet. 12:2333-2340(2003) GeneRIF 3938 · UniProtKB (1) · Mapped (1)
A lactase persistent variant enhances lactase promoter activity in vitro. GeneRIF 3938

Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures.

Obermayer-Pietsch B.M., Bonelli C.M., Walter D.E., Kuhn R.J., Fahrleitner-Pammer A., Berghold A., Goessler W., Stepan V., Dobnig H., Leb G. et al.

J. Bone Miner. Res. 19:42-47(2004) GeneRIF 3938 GAD 129478 · Mapped (1)
Associated with METABOLIC: bone density; calcium; fractures, nonvertebral; milk intolerance; GAD 129478 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

The genetic variant of lactase persistence C (-13910) T as a risk factor for type I and II diabetes in the Finnish population.

Enattah N.S., Forsblom C., Rasinpera H., Tuomi T., Groop P.H., Jarvela I.

Eur J Clin Nutr 58:1319-1322(2004) GeneRIF 3938 · Mapped (1)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans.

Mulcare C.A., Weale M.E., Jones A.L., Connell B., Zeitlyn D., Tarekegn A., Swallow D.M., Bradman N., Thomas M.G.

Am. J. Hum. Genet. 74:1102-1110(2004) GeneRIF 3938 · Mapped (1)
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) GeneRIF 3938

Transcriptional regulation of the lactase-phlorizin hydrolase promoter by PDX-1.

Wang Z., Fang R., Olds L.C., Sibley E.

Am. J. Physiol. Gastrointest. Liver Physiol. 287:G555-61(2004) GeneRIF 3938 · Mapped (2)
Stable overexpression of pancreatic duodenal homeobox-1 results in repression of the endogenous human lactase-phlorizin hydrolase gene in differentiated Caco-2 cells GeneRIF 3938

Complex regulation of the lactase-phlorizin hydrolase promoter by GATA-4.

van Wering H.M., Bosse T., Musters A., de Jong E., de Jong N., Hogen Esch C.E., Boudreau F., Swain G.P., Dowling L.N., Montgomery R.K. et al.

Am. J. Physiol. Gastrointest. Liver Physiol. 287:G899-909(2004) GeneRIF 3938 · Mapped (8)
GATA-4 is a key regulator of LPH gene expression that may function through an evolutionarily conserved mechanism involving cooperativity with an HNF-1alpha and/or a GATA-specific pathway independent of HNF-1alpha. GeneRIF 3938

Molecularly defined lactose malabsorption, peak bone mass and bone turnover rate in young finnish men.

Enattah N., Valimaki V.V., Valimaki M.J., Loyttyniemi E., Sahi T., Jarvela I.

Calcif. Tissue Int. 75:488-493(2004) GeneRIF 3938 · Mapped (1)
The adjustments for age height weight smoking alcohol consumption and physical exercise in the multiple regression analysis did not reveal any big relationships between the lactase genotypes and BMDs at lumbar femoral neck or total hip sites. GeneRIF 3938

A genetic test which can be used to diagnose adult-type hypolactasia in children.

Rasinpera H., Savilahti E., Enattah N.S., Kuokkanen M., Totterman N., Lindahl H., Jarvela I., Kolho K.L.

Gut 53:1571-1576(2004) GeneRIF 3938 · Mapped (1)
Observational study of genetic testing. (HuGE Navigator) GeneRIF 3938

Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age.

Enattah N.S., Sulkava R., Halonen P., Kontula K., Jarvela I.

J Am Geriatr Soc 53:79-82(2005) GeneRIF 3938 GAD 129481 · Mapped (1)
Associated with METABOLIC: bone fractures; GAD 129481 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase non-persistence.

Hogenauer C., Hammer H.F., Mellitzer K., Renner W., Krejs G.J., Toplak H.

Eur J Gastroenterol Hepatol 17:371-376(2005) GeneRIF 3938 · Mapped (1)
Observational study of genetic testing. (HuGE Navigator) GeneRIF 3938

Introducing genetic testing for adult-type hypolactasia.

Buning C., Genschel J., Jurga J., Fiedler T., Voderholzer W., Fiedler E.M., Worm M., Weltrich R., Lochs H., Schmidt H. et al.

Digestion 71:245-250(2005) GeneRIF 3938 · Mapped (1)
Observational study of genetic testing. (HuGE Navigator) GeneRIF 3938

Lactose intolerance: lactose tolerance test versus genotyping.

Ridefelt P., Hakansson L.D.

Scand. J. Gastroenterol. 40:822-826(2005) GeneRIF 3938 · Mapped (1)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.

Lewinsky R.H., Jensen T.G., Moller J., Stensballe A., Olsen J., Troelsen J.T.

Hum. Mol. Genet. 14:3945-3953(2005) GeneRIF 3938 · Mapped (1)
the binding of Oct-1 to the T-13 910 lactase variant directs increased lactase promoter activity and this might provide an explanation for the lactase persistence phenotype in the human population GeneRIF 3938

Genotyping of the lactase-phlorizin hydrolase -13910 polymorphism by LightCycler PCR and implications for the diagnosis of lactose intolerance.

Bodlaj G., Stocher M., Hufnagl P., Hubmann R., Biesenbach G., Stekel H., Berg J.

Clin. Chem. 52:148-151(2006) GeneRIF 3938 · Mapped (1)
Observational study of genotype prevalence gene-disease association and genetic testing. (HuGE Navigator) GeneRIF 3938

Comparison of a real-time polymerase chain reaction assay for lactase genetic polymorphism with standard indirect tests for lactose maldigestion.

Szilagyi A., Malolepszy P., Hamard E., Xue X., Hilzenrat N., Ponniah M., MacNamara E., Chong G.

Clin. Gastroenterol. Hepatol. 5:192-196(2007) GeneRIF 3938 · Mapped (1)
Observational study of genetic testing. (HuGE Navigator) GeneRIF 3938

The effects of adult-type hypolactasia on body height growth and dietary calcium intake from childhood into young adulthood: a 21-year follow-up study--the Cardiovascular Risk in Young Finns Study.

Lehtimaki T., Hemminki J., Rontu R., Mikkila V., Rasanen L., Laaksonen M., Hutri-Kahonen N., Kahonen M., Viikari J., Raitakari O.

Pediatrics 118:1553-1559(2006) GeneRIF 3938 · Mapped (1)
lactase-phlorizin hydrolase C/C-13910 genotype was not associated with mean growth speed or final mean body height; however it contributed significantly to milk product consumption and dietary calcium intake from childhood into young adulthood GeneRIF 3938

A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?

Ingram C.J., Elamin M.F., Mulcare C.A., Weale M.E., Tarekegn A., Raga T.O., Bekele E., Elamin F.M., Thomas M.G., Bradman N. et al.

Hum. Genet. 120:779-788(2007) GeneRIF 3938 · Mapped (1)
cohort study of lactose digester and non-digester Sudanese volunteers shows there is no association of -13910*T or the A haplotype with lactase persistence; Observational study of gene-disease association. (HuGE Navigator) GeneRIF 3938

Lactase non-persistence and milk consumption in Estonia.

Lember M., Torniainen S., Kull M., Kallikorm R., Saadla P., Rajasalu T., Komu H., Jarvela I.

World J. Gastroenterol. 12:7329-7331(2006) GeneRIF 3938 · Mapped (1)
Milk consumption of lactose intolerant subjects is consistent with previously reported figures of adult-type hypolactasia in Estonia. GeneRIF 3938

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