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2024 5
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MFSD12 depletion reduces cystine accumulation without improvement in proximal tubular function in experimental models for cystinosis.
Bondue T, Khodaparast L, Khodaparast L, Cairoli S, Goffredo BM, Gijsbers R, van den Heuvel L, Levtchenko E. Bondue T, et al. Am J Physiol Renal Physiol. 2024 Jun 1;326(6):F981-F987. doi: 10.1152/ajprenal.00014.2024. Epub 2024 Mar 28. Am J Physiol Renal Physiol. 2024. PMID: 38545650 Free article.
Furthermore, the mfsd12a TB MO injection did not improve proximal tubular reabsorption or megalin expression. In conclusion, MFSD12 mRNA depletion reduced cystine levels in both tested models without improvement of the proximal tubular function in the ctns(-/-) zebrafish e …
Furthermore, the mfsd12a TB MO injection did not improve proximal tubular reabsorption or megalin expression. In conclusion, MFSD12 m …
Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.
Colona VL, Travaglini L, Sartorelli J, Vasco G, Piluso A, D'Amico A, Novelli A, Bertini E, Nicita F. Colona VL, et al. Eur J Paediatr Neurol. 2025 Jul;57:82-90. doi: 10.1016/j.ejpn.2025.06.001. Epub 2025 Jun 6. Eur J Paediatr Neurol. 2025. PMID: 40527196
This approach has shed light on the etiopathogenetic role of 19 variants across 10 different genes (COQ4, FOXG1, GRIN2B, HPDL, LRP2, RBMX, SPART, TBCD, ZBTB11, and ZC4H2) in 14 patients with complex EO-HSP. Notably, most of these genes are not conventionally classified as …
This approach has shed light on the etiopathogenetic role of 19 variants across 10 different genes (COQ4, FOXG1, GRIN2B, HPDL, LRP2, …
Vacuolar H(+)-ATPase and Megalin-Mediated Prorenin Uptake: Focus on Elements Beyond the (Pro)Renin Receptor.
Wang N, Lu X, Jan Danser AH. Wang N, et al. J Cell Physiol. 2025 Jan;240(1):e31518. doi: 10.1002/jcp.31518. J Cell Physiol. 2025. PMID: 39745029 Free PMC article.
Megalin is a multiple-ligand receptor that contributes to protein reabsorption in the kidney. ...Here we explored whether V-ATPase elements other than the (P)RR affect megalin-mediated prorenin uptake. Using RNAi technology, we inhibited each individual V-ATPase sub …
Megalin is a multiple-ligand receptor that contributes to protein reabsorption in the kidney. ...Here we explored whether V-ATPase el …
Pharmacogenomics in pediatric oncology patients with solid tumors related to chemotherapy-induced toxicity: A systematic review.
Hansson P, Blacker C, Uvdal H, Wadelius M, Green H, Ljungman G. Hansson P, et al. Crit Rev Oncol Hematol. 2025 Jul;211:104720. doi: 10.1016/j.critrevonc.2025.104720. Epub 2025 Apr 11. Crit Rev Oncol Hematol. 2025. PMID: 40222694 Free article.
The genes ABCC3, COMT, ERCC2, GSTP1, GSTT1, LRP2, SLC22A2, and TPMT showed associations with ototoxicity due to platinum-based drugs. ...
The genes ABCC3, COMT, ERCC2, GSTP1, GSTT1, LRP2, SLC22A2, and TPMT showed associations with ototoxicity due to platinum-based drugs. …
Clinicopathological and molecular characteristics of papillary thyroid carcinoma with BRAF V600E and TERT promoter co-mutations.
Liu R, Zhu J, Jiang B, Hu Y, Xue J, Liu W, Yin Y, Wei Y, Sun Z, Li P. Liu R, et al. Pathol Res Pract. 2025 Aug;272:156112. doi: 10.1016/j.prp.2025.156112. Epub 2025 Jul 9. Pathol Res Pract. 2025. PMID: 40645017
The expression of genes related to thyroid hormone synthesis in co-mutated PTC was significantly downregulated, which may cause iodine therapy resistance by down-regulating iodide transporters (SLC5A5, SLC26A4 and LRP2) and biosynthesis (TPO, DUOX2 and DUOXA2)....
The expression of genes related to thyroid hormone synthesis in co-mutated PTC was significantly downregulated, which may cause iodine thera …
Physical and functional interactions between LDLR family members and CXCR4 in breast cancer.
Zhang J, Chen J, Wo D, Ma E, Yan H, Peng J, Ren DN, Zhu W. Zhang J, et al. FEBS J. 2025 Sep;292(17):4580-4590. doi: 10.1111/febs.70016. Epub 2025 Feb 28. FEBS J. 2025. PMID: 40022442 Free PMC article.
Additional members of the LDLR family, SORL1 and LRP2, also showed a negative correlation with CXCR4 in the prognosis of breast cancer patients. ...
Additional members of the LDLR family, SORL1 and LRP2, also showed a negative correlation with CXCR4 in the prognosis of breast cance …
Harnessing lysosomal genetics: development of a risk stratification panel and unveiling of DPP7 as a biomarker for colon adenocarcinoma.
Luo Z, Wang Y, Zeng S, Yu L, Zhao Y, Wang H, Fan Y, Zhang Y, Wang L, Li Y, Niu Z, Zhang X, Zhang Y. Luo Z, et al. J Genet Genomics. 2025 Dec;52(12):1549-1562. doi: 10.1016/j.jgg.2025.04.009. Epub 2025 Apr 18. J Genet Genomics. 2025. PMID: 40254156 Free article.
In this study, we construct a 6-LRG-based prognostic risk stratification model (DPP7, ADAM8, CD1B, LRP2, ATP6V1C2, and PLAAT3) by integrating LASSO and Cox regression analyses. Stratifying patients based on median risk scores, we demonstrate that high-risk patients exhibit …
In this study, we construct a 6-LRG-based prognostic risk stratification model (DPP7, ADAM8, CD1B, LRP2, ATP6V1C2, and PLAAT3) by int …
Trio Exome Sequencing Reveal Paternal Transmission Bias and Novel Gene Loci in Recurrent Spontaneous Abortion.
Duan H, Zhang J, Jiang Z, Jia J, Li J, Du J. Duan H, et al. FASEB J. 2025 Aug 15;39(15):e70888. doi: 10.1096/fj.202501656R. FASEB J. 2025. PMID: 40736039
Functional predictions indicated potential deleterious effects or regulatory impacts for several variants, and mouse knockout models supported embryonic developmental roles for key genes (e.g., Lig1, Lrp2, and Flywch1). Additionally, our analysis revealed a paternal transm …
Functional predictions indicated potential deleterious effects or regulatory impacts for several variants, and mouse knockout models support …
A multi-trait GWAS identifies novel genes influencing albuminuria.
Tsao HM, Lai TS, Chang YC, Hsiung CN, Tsai IJ, Chou YH, Wu VC, Lin SL, Chen YM. Tsao HM, et al. Nephrol Dial Transplant. 2024 Dec 20;40(1):123-132. doi: 10.1093/ndt/gfae114. Nephrol Dial Transplant. 2024. PMID: 38772745
Twelve genes with high priority included the albumin endocytic receptor gene LRP2 and ciliary gene IFT172. CONCLUSIONS: The findings of this multi-trait GWAS suggest that primary cilia play a role in sensing mechanical stimuli, leading to albumin endocytosis. ...
Twelve genes with high priority included the albumin endocytic receptor gene LRP2 and ciliary gene IFT172. CONCLUSIONS: The findings …
Multiregion exome sequencing indicates a monoclonal origin of esophageal spindle-cell squamous cell carcinoma.
Wang Y, Zhu Q, Wu Y, Li B, Su X, Xiang C, Han Y. Wang Y, et al. J Pathol. 2024 Sep;264(1):55-67. doi: 10.1002/path.6324. Epub 2024 Jul 18. J Pathol. 2024. PMID: 39022845
Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a potent driver oncogene, suggesting new targeted therapies and immunotherapies as treatment options. 2024 The Pathological Society of Great …
Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a p …
24 results