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Page 1
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
RESULTS: Homozygous variants were found in three candidate genes: MED27, SLC6A7, and MPPE1. Although the patients had features of MED27-related disorder, the SLC6A7 and MPPE1 variants were functionally investigated. SLC6A7 variant in vitro overexpression caus …
RESULTS: Homozygous variants were found in three candidate genes: MED27, SLC6A7, and MPPE1. Although the patients had features of MED …
Proline uptake promotes activation of lymphoid tissue inducer cells to maintain gut homeostasis.
Wu D, Li Z, Zhang Y, Zhang Y, Ren G, Zeng Y, Liu H, Guan W, Zhao X, Li P, Hu L, Hou Z, Gong J, Li J, Jin W, Hu Z, Jiang C, Li H, Zhong C. Wu D, et al. Nat Metab. 2023 Nov;5(11):1953-1968. doi: 10.1038/s42255-023-00908-6. Epub 2023 Oct 19. Nat Metab. 2023. PMID: 37857730
Here, we show that disruption of exogenous proline uptake, either through dietary restriction or by deficiency of the proline transporter Slc6a7, in lymphoid tissue inducer (LTi) cells, impairs LTi activation and aggravates dextran sodium sulfate-induced colitis in mice. . …
Here, we show that disruption of exogenous proline uptake, either through dietary restriction or by deficiency of the proline transporter …
Atractylodes lancea Rhizoma Attenuates DSS-Induced Colitis by Regulating Intestinal Flora and Metabolites.
Qu L, Liu C, Ke C, Zhan X, Li L, Xu H, Xu K, Liu Y. Qu L, et al. Am J Chin Med. 2022;50(2):525-552. doi: 10.1142/S0192415X22500203. Epub 2022 Feb 3. Am J Chin Med. 2022. PMID: 35114907
SCZ and FCZ not only inhibited the abundance of harmful bacteria and increased the abundance of beneficial bacteria, but also regulated the metabolism of disease-related metabolites such as amino acid and cholesterol metabolism. Both preparations inhibited the gene expression ( …
SCZ and FCZ not only inhibited the abundance of harmful bacteria and increased the abundance of beneficial bacteria, but also regulated the …
A new association between polymorphisms of the SLC6A7 gene in the chromosome 5q31-32 region and asthma.
Kim JH, Cheong HS, Park BL, Bae JS, Jung S, Yoon SH, Park JS, Jang AS, Park SW, Uh ST, Kim YH, Hwang HK, Park CS, Shin HD. Kim JH, et al. J Hum Genet. 2010 Jun;55(6):358-65. doi: 10.1038/jhg.2010.34. Epub 2010 Apr 30. J Hum Genet. 2010. PMID: 20431603
In this study, resequencing of all exon, promoter region (2 kb), and exon-intron boundary regions in the SLC6A7 gene found a total of 33 single nucleotide polymorphisms (SNPs) in 24 Korean asthmatic patients. ...Logistic analyses revealed significant associations between g …
In this study, resequencing of all exon, promoter region (2 kb), and exon-intron boundary regions in the SLC6A7 gene found a total of …
Synaptotagmin 2 is ectopically overexpressed in excitatory presynapses of a widely used CaMKΙΙα-Cre mouse line.
Matsuura K, Mohamed HMA, Youssef MMM, Yoshida Y, Yamamoto T. Matsuura K, et al. iScience. 2022 Jun 30;25(8):104692. doi: 10.1016/j.isci.2022.104692. eCollection 2022 Aug 19. iScience. 2022. PMID: 35856033 Free PMC article.
Moreover, the upregulation of immediate-early genes and genes incorporated in bacterial artificial chromosome (BAC) transgenes, such as L-proline transporter Slc6a7, was found in Cre(+) hippocampus. The copy number and integration site of the transgene are suggested to hav …
Moreover, the upregulation of immediate-early genes and genes incorporated in bacterial artificial chromosome (BAC) transgenes, such as L-pr …
L-proline transporter inhibitor (LQFM215) promotes neuroprotection in ischemic stroke.
Carvalho GA, Chiareli RA, Marques BL, Parreira RC, de Souza Gil E, de Carvalho FS, da Rocha ALB, Silva RR, Noël F, Vaz BG, Lião LM, Ahmad S, Verli H, Menegatti R, Pinto MCX. Carvalho GA, et al. Pharmacol Rep. 2023 Apr;75(2):276-292. doi: 10.1007/s43440-023-00451-x. Epub 2023 Jan 31. Pharmacol Rep. 2023. PMID: 36719635
BACKGROUND: L-proline transporter (PROT/SLC6A7) is closely associated with glutamatergic neurotransmission, where L-proline modulates the NMDA receptor (NMDAR) function. ...
BACKGROUND: L-proline transporter (PROT/SLC6A7) is closely associated with glutamatergic neurotransmission, where L-proline modulates …
RNA-Seq analysis reveals sex-dependent transcriptomic profiles of human subacromial bursa stratified by tear etiology.
Rai MF, Cai L, Tycksen ED, Chamberlain A, Keener J. Rai MF, et al. J Orthop Res. 2022 Dec;40(12):2713-2727. doi: 10.1002/jor.25316. Epub 2022 Mar 24. J Orthop Res. 2022. PMID: 35266580 Free article.
In males, AZGP1, CNTFR, COL9A1, ZNF98, and EREG were highly elevated in traumatic tears whereas MYL2, HOXD11, SLC6A7, CADM1, and MMP17 were highly expressed in degenerative tears. ...
In males, AZGP1, CNTFR, COL9A1, ZNF98, and EREG were highly elevated in traumatic tears whereas MYL2, HOXD11, SLC6A7, CADM1, and MMP1 …
Identification and functional characterization of solute carrier family 6 genes in Ciona savignyi.
Ren P, Wei J, Yu H, Dong B. Ren P, et al. Gene. 2019 Jul 15;705:142-148. doi: 10.1016/j.gene.2019.04.056. Epub 2019 Apr 23. Gene. 2019. PMID: 31026570
Four genes were selected from SLC6 subfamilies to be further investigated for their functional characteristics on cell growth and migration through overexpression approach in cultured cell lines. The results showed both SLC6A7 and SLC6A17 from amino acid transporters AA1 a …
Four genes were selected from SLC6 subfamilies to be further investigated for their functional characteristics on cell growth and migration …
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D. Vincent M, et al. Eur J Hum Genet. 2014 Jan;22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695276 Free PMC article.
We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported, and we propose the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins syndro …
We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients rep …
CIS-Acting Allele-Specific Expression Differences Induced by Alcohol and Impacted by Sex as Well as Parental Genotype of Origin.
Lo CL, Lumeng L, Bell RL, Liang T, Lossie AC, Muir WM, Zhou FC. Lo CL, et al. Alcohol Clin Exp Res. 2018 Aug;42(8):1444-1453. doi: 10.1111/acer.13776. Epub 2018 Jun 9. Alcohol Clin Exp Res. 2018. PMID: 29786868 Free PMC article.
The identified genes included those associated with EtOH metabolism (e.g., Aldh2); neuromodulatory function (e.g., Cckbr, Slc6a7, and Slc1a1); ion channel activity (e.g., Kcnc3); and other synaptic and epigenetic functions. ...
The identified genes included those associated with EtOH metabolism (e.g., Aldh2); neuromodulatory function (e.g., Cckbr, Slc6a7, and …
15 results