PubMed (GeneRIF) for id: 8884

Year	Number of Results
2003	1
2004	1
2005	1
2006	3
2007	3
2008	1
2009	2
2010	3
2011	5
2012	5
2013	1
2015	3
2017	1
2019	1
2020	1
2022	1
2023	3
2024	1

1

Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment.

Hsieh CH, Lee J, Sung HH, Huang YF, Ding YS, Li CY, Yen CL, Hsu CK, Yu CK, Hsieh HY, Hughes MW, Chen PC, Shieh CC. Hsieh CH, et al. Clin Immunol. 2023 Dec;257:109855. doi: 10.1016/j.clim.2023.109855. Epub 2023 Nov 28. Clin Immunol. 2023. PMID: 38036278 Free article.

2

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.

Utsuno Y, Hamada K, Hamanaka K, Miyoshi K, Tsuchimoto K, Sunada S, Itai T, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Kato Y, Saito K, Ogata K, Matsumoto N. Utsuno Y, et al. J Hum Genet. 2024 Feb;69(2):69-77. doi: 10.1038/s10038-023-01206-5. Epub 2023 Nov 27. J Hum Genet. 2024. PMID: 38012394

3

A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.

Montomoli M, Vetro A, Tubili F, Donati MA, Daniotti M, Pochiero F, Rivieri F, Girlando S, Guerrini R. Montomoli M, et al. Eur J Med Genet. 2023 Aug;66(8):104808. doi: 10.1016/j.ejmg.2023.104808. Epub 2023 Jun 28. Eur J Med Genet. 2023. PMID: 37391029 Free article.

4

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.

Holling T, Nampoothiri S, Tarhan B, Schneeberger PE, Vinayan KP, Yesodharan D, Roy AG, Radhakrishnan P, Alawi M, Rhodes L, Girisha KM, Kang PB, Kutsche K. Holling T, et al. Eur J Hum Genet. 2022 Apr;30(4):439-449. doi: 10.1038/s41431-021-01033-2. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35013551 Free PMC article.

5

Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients.

Sun T, Wang D, Ping Y, Sang Y, Dai Y, Wang Y, Liu Z, Duan X, Tao Z, Liu W. Sun T, et al. Int J Oncol. 2020 Feb;56(2):460-469. doi: 10.3892/ijo.2019.4944. Epub 2019 Dec 16. Int J Oncol. 2020. PMID: 31894266 Free PMC article.

6

Lipopolysaccharide inhibits colonic biotin uptake via interference with membrane expression of its transporter: a role for a casein kinase 2-mediated pathway.

Lakhan R, Said HM. Lakhan R, et al. Am J Physiol Cell Physiol. 2017 Apr 1;312(4):C376-C384. doi: 10.1152/ajpcell.00300.2016. Epub 2017 Jan 4. Am J Physiol Cell Physiol. 2017. PMID: 28052864 Free PMC article.

7

Salmonella infection inhibits intestinal biotin transport: cellular and molecular mechanisms.

Ghosal A, Jellbauer S, Kapadia R, Raffatellu M, Said HM. Ghosal A, et al. Am J Physiol Gastrointest Liver Physiol. 2015 Jul 15;309(2):G123-31. doi: 10.1152/ajpgi.00112.2015. Epub 2015 May 21. Am J Physiol Gastrointest Liver Physiol. 2015. PMID: 25999427 Free PMC article.

8

Interaction of α-Lipoic Acid with the Human Na+/Multivitamin Transporter (hSMVT).

Zehnpfennig B, Wiriyasermkul P, Carlson DA, Quick M. Zehnpfennig B, et al. J Biol Chem. 2015 Jun 26;290(26):16372-82. doi: 10.1074/jbc.M114.622555. Epub 2015 May 13. J Biol Chem. 2015. PMID: 25971966 Free PMC article.

9

Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells.

Uchida Y, Ito K, Ohtsuki S, Kubo Y, Suzuki T, Terasaki T. Uchida Y, et al. J Neurochem. 2015 Jul;134(1):97-112. doi: 10.1111/jnc.13092. Epub 2015 Apr 8. J Neurochem. 2015. PMID: 25809983 Free article.

10

Biotin uptake by T47D breast cancer cells: functional and molecular evidence of sodium-dependent multivitamin transporter (SMVT).

Vadlapudi AD, Vadlapatla RK, Pal D, Mitra AK. Vadlapudi AD, et al. Int J Pharm. 2013 Jan 30;441(1-2):535-43. doi: 10.1016/j.ijpharm.2012.10.047. Epub 2012 Nov 8. Int J Pharm. 2013. PMID: 23142496

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