| Effect of knocking out mouse Slc44a4 on colonic uptake of the microbiota-generated thiamine pyrophosphate and colon physiology. | Effect of knocking out mouse Slc44a4 on colonic uptake of the microbiota-generated thiamine pyrophosphate and colon physiology.
Sabui S, Anthonymuthu S, Ramamoorthy K, Skupsky J, Jennings TSK, Rahmatpanah F, Fleckenstein JM, Said HM., | 06/15/2024 |
| We found that rs2736428 was significantly associated with UC risk (allelic p = 0.0004), and the CT and TT genotypes of rs2736428 had a higher distribution compared with the CC genotypes (genotypic p = 0.001), suggesting that the T allele was a risk allele (odds ratio = 1.45, 95% confidence interval = 1.18-1.78). Moreover, one haplotype block that included rs2736428 was found to be strongly associated with UC risk as well | Evaluating the Association of Common Variants of the SLC44A4 Gene with Ulcerative Colitis Susceptibility in the Han Chinese Population.
Wu J, Cheng Y, Zhang R, Shen H, Ma L, Yang J, Zhang Y, Zhang J. | 11/25/2017 |
| Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in the zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance. | SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.
Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D. | 09/23/2017 |
| These results suggest (i) apparent allelic heterogeneity in CFB and genetic heterogeneity in SLC44A4 across different ethnic groups; (ii) shared ulcerative colitis genetic etiological factors among Asians | A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.
Gupta A, Juyal G, Sood A, Midha V, Yamazaki K, Vich Vila A, Esaki M, Matsui T, Takahashi A, Kubo M, Weersma RK, Thelma BK., Free PMC Article | 07/29/2017 |
| Critical genetic polymorphisms in SLC44A4, an ulcerative colitis susceptibility gene, have been identified in a genetic association study in North Indians. | Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.
Gupta A, Thelma BK. | 12/17/2016 |
| epigenetic mechanisms (histone modifications) play a role in determining the tissue-specific pattern of expression of the TPPT along the GI tract. | Mechanism(S) Involved in the Colon-Specific Expression of the Thiamine Pyrophosphate (Tpp) Transporter.
Nabokina SM, Ramos MB, Said HM., Free PMC Article | 07/30/2016 |
| The results also provide an indirect support for a membrane topology for hTPPT with 10 transmembrane domains as predicted by the TMHMM transmembrane helixes prediction program. | The human colonic thiamine pyrophosphate transporter (hTPPT) is a glycoprotein and N-linked glycosylation is important for its function.
Nabokina SM, Subramanian VS, Said HM., Free PMC Article | 06/28/2016 |
| Characterization of the SLC44A4 promoter and report the importance of both ELF3 and CREB-1 transcription factors in the maintenance of basal promoter activity in colonic epithelial cells. | Regulation of basal promoter activity of the human thiamine pyrophosphate transporter SLC44A4 in human intestinal epithelial cells.
Nabokina SM, Ramos MB, Valle JE, Said HM., Free PMC Article | 03/19/2016 |
| Molecular identification and functional characterization of the human colonic thiamine pyrophosphate transporter. | Molecular identification and functional characterization of the human colonic thiamine pyrophosphate transporter.
Nabokina SM, Inoue K, Subramanian VS, Valle JE, Yuasa H, Said HM., Free PMC Article | 05/3/2014 |
| These results indicate that CTL4 mediates ACh synthesis in non-neuronal cell lines and presents a mechanism to target non-neuronal ACh synthesis without affecting neuronal ACh synthesis. | Choline transporter-like protein 4 (CTL4) links to non-neuronal acetylcholine synthesis.
Song P, Rekow SS, Singleton CA, Sekhon HS, Dissen GA, Zhou M, Campling B, Lindstrom J, Spindel ER., Free PMC Article | 10/26/2013 |
| These results suggest that eltrombopag can partially modulate some immune responses by TGFbeta(1) and sCTLA-4, but it does not induce immune tolerance by 24 weeks after treatment. | TGFβ(1) and sCTLA-4 levels are increased in eltrombopag-exposed patients with ITP.
Fujita S, Nakanishi T, Yoshimura H, Hotta M, Nakamichi N, Tamaki T, Ishii K, Ito T, Nomura S. | 02/2/2013 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.
Quan C, Ren YQ, Xiang LH, Sun LD, Xu AE, Gao XH, Chen HD, Pu XM, Wu RN, Liang CZ, Li JB, Gao TW, Zhang JZ, Wang XL, Wang J, Yang RY, Liang L, Yu JB, Zuo XB, Zhang SQ, Zhang SM, Chen G, Zheng XD, Li P, Zhu J, Li YW, Wei XD, Hong WS, Ye Y, Zhang Y, Wu WS, Cheng H, Dong PL, Hu DY, Li Y, Li M, Zhang X, Tang HY, Tang XF, Xu SX, He SM, Lv YM, Shen M, Jiang HQ, Wang Y, Li K, Kang XJ, Liu YQ, Sun L, Liu ZF, Xie SQ, Zhu CY, Xu Q, Gao JP, Hu WL, Ni C, Pan TM, Li Y, Yao S, He CF, Liu YS, Yu ZY, Yin XY, Zhang FY, Yang S, Zhou Y, Zhang XJ. | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesRefining the association of MHC with multiple sclerosis in African Americans.
McElroy JP, Cree BA, Caillier SJ, Gregersen PK, Herbert J, Khan OA, Freudenberg J, Lee A, Bridges SL Jr, Hauser SL, Oksenberg JR, Gourraud PA. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA. | 01/20/2010 |