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Page 1
Vitamin D-Related Genes and Thyroid Cancer-A Systematic Review.
Maciejewski A, Lacka K. Maciejewski A, et al. Int J Mol Sci. 2022 Nov 7;23(21):13661. doi: 10.3390/ijms232113661. Int J Mol Sci. 2022. PMID: 36362448 Free PMC article.
Six vitamin D-related genes were analyzed (VDR-vitamin D receptor, CYP2R1-cytochrome P450 family 2 subfamily R member 1, CYP24A1-cytochrome P450 family 24 subfamily A member 1, CYP27B1-cytochrome P450 family 27 subfamily B member 1, DHCR7-7-dehydrocholesterol reductase and CUB …
Six vitamin D-related genes were analyzed (VDR-vitamin D receptor, CYP2R1-cytochrome P450 family 2 subfamily R member 1, CYP24A1-cytochrome …
Vitamin D and Genetic Susceptibility to Multiple Sclerosis.
Scazzone C, Agnello L, Bivona G, Lo Sasso B, Ciaccio M. Scazzone C, et al. Biochem Genet. 2021 Feb;59(1):1-30. doi: 10.1007/s10528-020-10010-1. Epub 2020 Nov 7. Biochem Genet. 2021. PMID: 33159645 Review.
Other vitamin D-related genes (including DHCR7/NADSYN1, CYP2R1, CYP27A1, CYP3A4, CYP27B1, CYP24A1, Megalin-DAB2-Cubilin, FGF-23, and Klotho) have been less investigated and achieved more conflicting evidence. ...
Other vitamin D-related genes (including DHCR7/NADSYN1, CYP2R1, CYP27A1, CYP3A4, CYP27B1, CYP24A1, Megalin-DAB2-Cubilin, FGF-23, and …
Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea.
Anatolou D, Steiropoulos P, Zissimopoulos A, Chadia K, Archontogeorgis K, Kolios G, Manolopoulos VG, Ragia G. Anatolou D, et al. Sleep Breath. 2024 May;28(2):959-966. doi: 10.1007/s11325-023-02950-w. Epub 2023 Nov 27. Sleep Breath. 2024. PMID: 38008818 Free PMC article.
PURPOSE: Vitamin D deficiency has been associated with the occurrence of obstructive sleep apnea syndrome (OSAS). Megalin (LRP2) and cubilin (CUBN) are implicated in vitamin D metabolism, whereas LRP2 and CUBN polymorphisms have been previously associated wit …
PURPOSE: Vitamin D deficiency has been associated with the occurrence of obstructive sleep apnea syndrome (OSAS). Megalin (LRP2) and cubi …
Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells.
Long KR, Rbaibi Y, Bondi CD, Ford BR, Poholek AC, Boyd-Shiwarski CR, Tan RJ, Locker JD, Weisz OA. Long KR, et al. Am J Physiol Renal Physiol. 2022 Jan 1;322(1):F14-F26. doi: 10.1152/ajprenal.00259.2021. Epub 2021 Nov 8. Am J Physiol Renal Physiol. 2022. PMID: 34747197 Free PMC article.
The multiligand receptors megalin (Lrp2) and cubilin (Cubn) and their endocytic adaptor protein Dab2 (Dab2) play essential roles in maintaining the integrity of the apical endocytic pathway of proximal tubule (PT) cells and have complex and poorly understood roles i …
The multiligand receptors megalin (Lrp2) and cubilin (Cubn) and their endocytic adaptor protein Dab2 (Dab2) play essential rol …
Vitamin B-related Gene Polymorphisms and Cardiovascular Disease.
Katsa ME, Gil APR. Katsa ME, et al. Endocr Metab Immune Disord Drug Targets. 2022;22(10):979-984. doi: 10.2174/1381612828666220328115605. Endocr Metab Immune Disord Drug Targets. 2022. PMID: 35346016 Review.
Finally, the polymorphisms which have been mostly associated with vitamin B12 concentration are the rs11254363 polymorphism at intron 52 of the intrinsic factor vitamin B12 receptor of the CUBN and the rs526934 polymorphism at intron 8 of transcobalamin I. To sum up, sever …
Finally, the polymorphisms which have been mostly associated with vitamin B12 concentration are the rs11254363 polymorphism at intron 52 of …
CUBN gene mutations may cause focal segmental glomerulosclerosis (FSGS) in children.
Yang J, Xu Y, Deng L, Zhou L, Qiu L, Zhang Y, Zhou J. Yang J, et al. BMC Nephrol. 2022 Jan 3;23(1):15. doi: 10.1186/s12882-021-02654-x. BMC Nephrol. 2022. PMID: 34979989 Free PMC article.
CUBN gene biallelic pathogenic variants were found and then verified by sanger sequencing. ...CONCLUSION: The results demonstrate that CUBN gene mutations may cause isolated proteinuria pathologically presented as FSGS. Our cases extend the spectrum of renal manifes …
CUBN gene biallelic pathogenic variants were found and then verified by sanger sequencing. ...CONCLUSION: The results demonstrate tha …
Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile.
Suazo J, Salamanca C, Cáceres-Rojas G, González-Hormazábal P, Pantoja R, Leiva N, Pardo R. Suazo J, et al. Reprod Sci. 2022 Oct;29(10):2921-2926. doi: 10.1007/s43032-022-00957-4. Epub 2022 Apr 26. Reprod Sci. 2022. PMID: 35471549
After multiple comparison corrections, only rs780807 in CUBN remains associated with NSCL/P at dominant model (OR 0.564, p-value = 0.0006, q-value = 0.0450). ...Further studies are necessary in order to explain relations with the phenotype and DNA methylation due to the ab …
After multiple comparison corrections, only rs780807 in CUBN remains associated with NSCL/P at dominant model (OR 0.564, p-value = 0. …
Renal Expression of CLC-5 and Megalin/Cubilin in Dent-1 Disease With Nonsense Mutations of CLCN5 Gene.
Zhai P, Lv W, Yang X, Huang Y, Zhai W, Ren X, Zhang X, Yang M, Zhang J, Guo T, Bai M, Yang Y, Ding Y, Huang Y. Zhai P, et al. Pediatr Dev Pathol. 2022 Jul-Aug;25(4):397-403. doi: 10.1177/10935266211065554. Epub 2022 Jan 31. Pediatr Dev Pathol. 2022. PMID: 35100899
The expression of CLC-5 and megalin/cubilin complex in renal tissues was detected by using immunohistochemistry method. Urinary albumin, alpha1-microglobulin, beta2-microglobulin, retinol binding protein, and calcium levels were measured by immunonephelometry. ...As the re …
The expression of CLC-5 and megalin/cubilin complex in renal tissues was detected by using immunohistochemistry method. Urinary album …
Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Pregnant Women of a Homogeneous Spanish Population: The Need for Revisiting the Current Vitamin Supplementation Strategies.
Rodriguez-Carnero G, Lorenzo PM, Canton-Blanco A, Mendizabal L, Arregi M, Zulueta M, Simon L, Macia-Cortiñas M, Casanueva FF, Crujeiras AB. Rodriguez-Carnero G, et al. Nutrients. 2022 Jun 29;14(13):2702. doi: 10.3390/nu14132702. Nutrients. 2022. PMID: 35807880 Free PMC article.
This study assessed the prevalence of genetic polymorphisms of folate and cobalamin metabolism-related genes such as MTHFR, MTR, CUBN, and SLC19A1 in pregnant women of a homogeneous Spanish population according to conception, pregnancy, delivery, and newborns complications …
This study assessed the prevalence of genetic polymorphisms of folate and cobalamin metabolism-related genes such as MTHFR, MTR, CUBN …
GWAS for the composite traits of hematuria and albuminuria.
Gagliano Taliun SA, Dinsmore IR, Mirshahi T, Chang AR, Paterson AD, Barua M. Gagliano Taliun SA, et al. Sci Rep. 2023 Oct 23;13(1):18084. doi: 10.1038/s41598-023-45102-6. Sci Rep. 2023. PMID: 37872228 Free PMC article.
Variants at 4 loci met genome-wide significance with the following nearest genes: COL4A4, TRIM27, ETV1 and CUBN. TRIM27 is part of the extended MHC locus. All loci with the exception of ETV1 were replicated in the Geisinger MyCode cohort. ...Additional loci included a codi …
Variants at 4 loci met genome-wide significance with the following nearest genes: COL4A4, TRIM27, ETV1 and CUBN. TRIM27 is part of th …
27 results