| Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene. | Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.
Cao M, Huang Z, Zhou H, Lin J, Zhang D., Free PMC Article | 12/18/2021 |
| EPB41 suppresses the Wnt/beta-catenin signaling in non-small cell lung cancer by sponging ALDOC. | EPB41 suppresses the Wnt/β-catenin signaling in non-small cell lung cancer by sponging ALDOC.
Yuan J, Xing H, Li Y, Song Y, Zhang N, Xie M, Liu J, Xu Y, Shen Y, Wang B, Zhang L, Yang M. | 05/22/2021 |
| Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia. | Epithelial-specific isoforms of protein 4.1R promote adherens junction assembly in maturing epithelia.
Huang SC, Liang JY, Vu LV, Yu FH, Ou AC, Ou JP, Zhang HS, Burnett KM, Benz EJ Jr., Free PMC Article | 09/12/2020 |
| The c.1215G>A mutation of the EPB41 gene probably accounts for the Elliptocytosis in this family | [Identification of a Novel Mutation of EPB41 Gene in a Family Affected with Hereditary Elliptocytosis].
Chen J, Zhou WJ, Li YX, Chen YN, Chen HG, Ding XP. | 02/8/2020 |
| the role of lnc-EPB41-1-1 in congenital pouch colon | Lnc-EPB41-Protein Interactions Associated with Congenital Pouch Colon.
Gupta S, Gupta N, Tiwari P, Menon S, Mathur P, Kothari SL, Nallapeta S, Medicherla KM, Suravajhala P., Free PMC Article | 06/1/2019 |
| 6 Single Nucleotide Polymorphisms within the EPB41 gene are significantly associated with Mandibular Prognathism (rs2762686, rs2788888, rs4654388, rs502393, rs11581096, and rs488113). The G-allele of SNP, assigned as rs4654388, showed the strongest link with an increased risk of Mandibular Prognathism in the Chinese population. | Genetic Factors Involved in Mandibular Prognathism.
Doraczynska-Kowalik A, Nelke KH, Pawlak W, Sasiadek MM, Gerber H. | 03/3/2018 |
| Using Next-Generation sequencing, we identified the causative genetic mutations in fifteen patients with clinically suspected hereditary elliptocytosis and hereditary pyropoikilocytosis and correlated the identified mutations with the clinical phenotype and ektacytometry profile. | Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA., Free PMC Article | 01/13/2018 |
| Our study shows alternative polyadenylation to be an additional mechanism for the generation of 4.1 protein diversity in the already complex EPB41-related genes. Understanding the diversity of EPB41 RNA processing is essential for a full appreciation of the many 4.1 proteins expressed in normal and pathological tissues. | Alternative polyadenylation in a family of paralogous EPB41 genes generates protein 4.1 diversity.
Rangel L, Lospitao E, Ruiz-Sáenz A, Alonso MA, Correas I., Free PMC Article | 10/21/2017 |
| identification of EPB41 as a hepatocellular carcinoma susceptibility gene in vitro and in vivo; consistent with this notion, EPB41 expression is significantly decreased in HCC tissue specimens, especially in portal vein metastasis or intrahepatic metastasis, compared to normal tissues | Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk.
Yang X, Yu D, Ren Y, Wei J, Pan W, Zhou C, Zhou L, Liu Y, Yang M., Free PMC Article | 05/13/2017 |
| The 4.1R, 4.1N and 4.1B are all expressed at the lateral membrane as well as cytoplasm of epithelial cells, suggesting a potentially redundant role of these proteins. | Comprehensive characterization of protein 4.1 expression in epithelium of large intestine.
Zhang J, Yang S, An C, Wang J, Yan H, Huang Y, Song J, Yin C, Baines AJ, Mohandas N, An X. | 10/17/2015 |
| Calcium mediates the conformation-based 4.1R FERM domain binding to membrane proteins by calmodulin. | Unique structural changes in calcium-bound calmodulin upon interaction with protein 4.1R FERM domain: novel insights into the calcium-dependent regulation of 4.1R FERM domain binding to membrane proteins by calmodulin.
Nunomura W, Isozumi N, Nakamura S, Jinbo Y, Ohki S, Kidokoro S, Wakui H, Takakuwa Y. | 12/6/2014 |
| Results suggest a previously unidentified role for the scaffolding protein 4.1R in locally controlling CLASP2 behavior, CLASP2 cortical platform turnover and GSK3 activity, enabling correct MT organization and dynamics essential for cell polarity. | Protein 4.1R binds to CLASP2 and regulates dynamics, organization and attachment of microtubules to the cell cortex.
Ruiz-Saenz A, van Haren J, Sayas CL, Rangel L, Demmers J, Millán J, Alonso MA, Galjart N, Correas I. | 07/19/2014 |
| We conclude that PIP2 may play an important role as a modulator of apo-CaM binding to 4.1R(80) throughout evolution. | Phosphatidylinositol-4,5 bisphosphate (PIP(2)) inhibits apo-calmodulin binding to protein 4.1.
Nunomura W, Gascard P, Wakui H, Takakuwa Y. | 05/24/2014 |
| Plasmodium falciparum PF3D7_0402000 was identified as a new binding partner for the major erythrocyte cytoskeletal protein, 4.1R. | A member of the Plasmodium falciparum PHIST family binds to the erythrocyte cytoskeleton component band 4.1.
Parish LA, Mai DW, Jones ML, Kitson EL, Rayner JC., Free PMC Article | 11/16/2013 |
| a novel gene region, EPB41, which may be associated with smoking cessation, along with gene regions in CNR1 that may be targeted to further elucidate the etiology of gender differences in smoking behaviors. | Gender-stratified gene and gene-treatment interactions in smoking cessation.
Lee W, Bergen AW, Swan GE, Li D, Liu J, Thomas P, Tyndale RF, Benowitz NL, Lerman C, Conti DV., Free PMC Article | 06/1/2013 |
| 4.1R regulates NHE1 activity through a direct protein-protein interaction that can be modulated by intracellular pH and Na(+) and Ca(2+) concentrations. | Characterization of cytoskeletal protein 4.1R interaction with NHE1 (Na(+)/H(+) exchanger isoform 1).
Nunomura W, Denker SP, Barber DL, Takakuwa Y, Gascard P., Free PMC Article | 11/17/2012 |
| Further studies involving siRNA-mediated knockdowns of spectrin, adducin, or p4.1 revealed that those proteins are needed for efficient docking of enterohaemorrhagic Escherichia coli to host cells. | Enterohaemorrhagic Escherichia coli requires the spectrin cytoskeleton for efficient attachment and pedestal formation on host cells.
Ruetz TJ, Lin AE, Guttman JA. | 05/19/2012 |
| This study characterizes the mechanism by which RBFOX2 regulates protein 4.1R exon 16 splicing through the downstream intronic element UGCAUG. | RBFOX2 promotes protein 4.1R exon 16 selection via U1 snRNP recruitment.
Huang SC, Ou AC, Park J, Yu F, Yu B, Lee A, Yang G, Zhou A, Benz EJ Jr., Free PMC Article | 02/25/2012 |
| apo-calmodulin stabilizes the 4.1R N-terminal domain through interaction with its beta-strand-rich C-lobe and provide a novel function for calmodulin, i.e. structural stabilization of 4.1R | Structural stabilization of protein 4.1R FERM domain upon binding to apo-calmodulin: novel insights into the biological significance of the calcium-independent binding of calmodulin to protein 4.1R.
Nunomura W, Sasakura D, Shiba K, Nakamura S, Kidokoro S, Takakuwa Y. | 01/21/2012 |
| Data show that protein 4.1R is necessary for the localization of IQGAP1 to the leading edge of cells migrating into a wound, whereas IQGAP1 is not required for protein 4.1R localization. | Protein 4.1R regulates cell migration and IQGAP1 recruitment to the leading edge.
Ruiz-Sáenz A, Kremer L, Alonso MA, Millán J, Correas I. | 12/17/2011 |
| Data provide evidence that 4.1R has functional interactions with emerin and A-type lamin that impact upon nuclear architecture, centrosome-nuclear envelope association and the regulation of beta-catenin transcriptional co-activator activity. | Structural protein 4.1R is integrally involved in nuclear envelope protein localization, centrosome-nucleus association and transcriptional signaling.
Meyer AJ, Almendrala DK, Go MM, Krauss SW., Free PMC Article | 09/24/2011 |
| 4.1R plays a role in the phosphatidylserine exposure signaling pathway that is of fundamental importance in red cell turnover. | 4.1R-deficient human red blood cells have altered phosphatidylserine exposure pathways and are deficient in CD44 and CD47 glycoproteins.
Jeremy KP, Plummer ZE, Head DJ, Madgett TE, Sanders KL, Wallington A, Storry JR, Gilsanz F, Delaunay J, Avent ND., Free PMC Article | 08/6/2011 |
| Proteins in the membrane skeleton protein 4.1 family are weakly expressed in non-small cell lung cancer and are related to tumor cell differentiation. | [Expression and significance of membrane skeleton protein 4.1 family in non-small cell lung cancer].
Zheng XY, Qi YM, Gao YF, Wang XY, Qi MX, Shi XF, An XL. | 07/16/2011 |
| in addition to two known minor shortened and stable spliceoforms, a 4.1R splicing mutation activates an intronic cryptic splice site, which results in a nonsense mRNA major isoform, targeted to degradation in intact cells by Nonsense-mediated mRNA decay. | Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis.
Morinière M, Delhommeau F, Calender A, Ribeiro L, Delaunay J, Baklouti F. | 03/26/2011 |
| Four EPB41 SNPs showed allelic and genotypic associations with MP in first stage. In the second stage, the allele rs4654388 showed the strongest significant association with MP. rs4654388 G-allele was associated with a significantly increased risk of MP. | Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population.
Xue F, Wong R, Rabie AB. | 02/5/2011 |