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BTD: A TRPC5 activator ameliorates mechanical allodynia in diabetic peripheral neuropathic rats by modulating TRPC5-CAMKII-ERK pathway.
Adhya P, Vaidya B, Sharma SS. Adhya P, et al. Neurochem Int. 2023 Nov;170:105609. doi: 10.1016/j.neuint.2023.105609. Epub 2023 Sep 5. Neurochem Int. 2023. PMID: 37673218
BTD treatment down-regulated TRPC5 expression by increasing the activity of protein kinase C. ...Overall, BTD is a promising therapeutic molecule in the treatment of mechanical allodynia in painful diabetic neuropathy....
BTD treatment down-regulated TRPC5 expression by increasing the activity of protein kinase C. ...Overall, BTD is a promising t …
Biotinidase Deficiency.
Wolf B. Wolf B. 2000 Mar 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Mar 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301497 Free Books & Documents. Review.
Evaluation of relatives at risk: If prenatal testing has not been performed, a newborn with an older sib with biotinidase deficiency should be treated at birth with biotin pending results of the definitive biotinidase enzyme activity assay and/or molecular genetic testing (if the …
Evaluation of relatives at risk: If prenatal testing has not been performed, a newborn with an older sib with biotinidase deficiency should …
Mutations in BTD causing biotinidase deficiency.
Hymes J, Stanley CM, Wolf B. Hymes J, et al. Hum Mutat. 2001 Nov;18(5):375-81. doi: 10.1002/humu.1208. Hum Mutat. 2001. PMID: 11668630 Review.
Both the cDNA and the genomic DNA of normal BTD gene have been isolated and characterized. The BTD gene is localized to chromosome 3p25. Thus far 61 mutations in three of the four exons of the BTD and one mutation in an intron gene that cause profound BTD …
Both the cDNA and the genomic DNA of normal BTD gene have been isolated and characterized. The BTD gene is localized to chromo …
Highly emissive supramolecular gold(I)-BTD materials.
Pinto A, Echeverri M, Gómez-Lor B, Rodríguez L. Pinto A, et al. Dalton Trans. 2022 May 31;51(21):8340-8349. doi: 10.1039/d2dt00950a. Dalton Trans. 2022. PMID: 35583157
Herein we report the synthesis of three light emitting rod-shaped gold(I) complexes by combining ethynyl-functionalized 2,1,3-benzothiadiazole (BTD), with different N-heterocyclic (imidazole, benzimidazole and phenantroimidazole) carbene gold(I) complexes. ...
Herein we report the synthesis of three light emitting rod-shaped gold(I) complexes by combining ethynyl-functionalized 2,1,3-benzothiadiazo …
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Oz O, Karaca M, Atas N, Gonel A, Ercan M. Oz O, et al. J Coll Physicians Surg Pak. 2021 Jul;31(7):780-785. doi: 10.29271/jcpsp.2021.07.780. J Coll Physicians Surg Pak. 2021. PMID: 34271776
Next-generation DNA sequencing analysis was performed using primers covering the exon regions of the BTD gene. The results were analysed by the mutation surveyor programme. ...Key Words: Biotinidase deficiency, BTD gene, Newborn screening, Inherited metabolic diseas …
Next-generation DNA sequencing analysis was performed using primers covering the exon regions of the BTD gene. The results were analy …
High pressure behaviour of the organic semiconductor salt (TTF-BTD)(2)I(3).
Montisci F, Lanza A, Fisch M, Sonneville C, Geng Y, Decurtins S, Reber C, Liu SX, Macchi P. Montisci F, et al. Phys Chem Chem Phys. 2023 Nov 22;25(45):31410-31417. doi: 10.1039/d3cp04220k. Phys Chem Chem Phys. 2023. PMID: 37962235 Free PMC article.
This study focuses on the effect of structure compression and cooling on the stereoelectronic properties of the planar pi-conjugated TTF-BTD (TTF = tetrathiafulvalene; BTD = 2,1,3-benzothiadiazole) molecule, a prototypical example in which an electron-donor moiety i …
This study focuses on the effect of structure compression and cooling on the stereoelectronic properties of the planar pi-conjugated TTF- …
In vivo analysis of the evolutionary conserved BTD-box domain of Sp1 and Btd during Drosophila development.
Blom-Dahl D, Córdoba S, Gabilondo H, Carr-Baena P, Díaz-Benjumea FJ, Estella C. Blom-Dahl D, et al. Dev Biol. 2020 Oct 1;466(1-2):77-89. doi: 10.1016/j.ydbio.2020.07.011. Epub 2020 Jul 29. Dev Biol. 2020. PMID: 32738261 Free article.
However, despite its conservation, the in vivo function of the BTD-box has never been studied. In this work, we have generated specific BTD-box deletion alleles for the Drosophila Sp family members Sp1 and buttonhead (btd) using gene editing tools and analyze …
However, despite its conservation, the in vivo function of the BTD-box has never been studied. In this work, we have generated specif …
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
Al-Eitan LN, Alqa'qa' K, Amayreh W, Khasawneh R, Aljamal H, Al-Abed M, Haddad Y, Rawashdeh T, Jaradat Z, Haddad H. Al-Eitan LN, et al. J Pers Med. 2020 Jan 21;10(1):4. doi: 10.3390/jpm10010004. J Pers Med. 2020. PMID: 31973013 Free PMC article.

Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic seque

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Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. …
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.
Silva GCV, Borsatto T, Schwartz IVD, Sperb-Ludwig F. Silva GCV, et al. Genet Mol Biol. 2022 Feb 14;45(1):e20200432. doi: 10.1590/1678-4685-GMB-2020-0432. eCollection 2022. Genet Mol Biol. 2022. PMID: 35167647 Free PMC article.
We evaluated 92 individuals with reduced biotinidase activity (level of heterozygotes = 33, borderline = 35, partial DB = 20 or total DB= 4) with previously determined BTD genotype. The 3'UTR of the BTD gene was Sanger sequenced. In silico analysis was performed to …
We evaluated 92 individuals with reduced biotinidase activity (level of heterozygotes = 33, borderline = 35, partial DB = 20 or total DB= 4) …
Effect of BTD gene variants on in vitro biotinidase activity.
Borsatto T, Sperb-Ludwig F, Blom HJ, Schwartz IVD. Borsatto T, et al. Mol Genet Metab. 2019 Aug;127(4):361-367. doi: 10.1016/j.ymgme.2019.07.006. Epub 2019 Jul 17. Mol Genet Metab. 2019. PMID: 31337602
METHODS: The variants c.119 T > C (p.Leu40Pro), c.479G > A (p.Cys160Tyr), c.664G > A (p.Asp222Asn), c.1330G > C (p.Asp444His), c.1337 T > C (p.Leu446Pro), c.1466A > G (p.Asn489Ser) and the wild type (wt) BTD gene were expressed in HEK 293 cells. Biotinida …
METHODS: The variants c.119 T > C (p.Leu40Pro), c.479G > A (p.Cys160Tyr), c.664G > A (p.Asp222Asn), c.1330G > C (p.Asp444His), c …
700 results