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1621
Natural killer cells occupy unique spatial neighborhoods in HER2- and HER2+ human breast cancers
Published 2025-01-01“…Whereas NK cell density and phenotype did not appear to be influenced by HER2 status, spatial analysis revealed distinct NK cells phenotypes regarding their proximity to neoplastic tumor cells that associated with HER2 status. …”
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1622
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
Published 2018-01-01“…Recently, whole exome sequencing (WES) has become increasingly used when a strong hypothesis cannot be formulated based on the clinical phenotype. Here, we present three patients belonging to a consanguineous Moroccan family with a GM1-gangliosidosis with unusual clinical onset and atypical radiological presentation that had eluded diagnosis for over a decade. …”
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1623
Cancer-associated fibroblasts promote pro-tumor functions of neutrophils in pancreatic cancer via IL-8: potential suppression by pirfenidone
Published 2025-02-01“…Conclusion CAFs activate neutrophils and enhance the malignant phenotype of pancreatic cancer. The interactions between cancer cells, CAFs, and neutrophils can be disrupted by PFD, highlighting a potential therapeutic approach.…”
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1624
The In Vitro Immunomodulatory Effects of Gold Nanocomplex on THP-1-Derived Macrophages
Published 2022-01-01“…We can conclude that our nanocomplex is a potent effector that prevents tumoral progression by activating three main immunological strategies: switching the surface expression profile of the activated macrophages into a proinflammatory M1-like phenotype, downregulating the expression of proinflammatory cytokines, and upregulating the expression level of anti-inflammatory cytokines.…”
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1625
SETD2 loss-of-function uniquely sensitizes cells to epigenetic targeting of NSD1-directed H3K36 methylation
Published 2025-02-01“…Furthermore, as a proof-of-principle, we demonstrate the therapeutic feasibility of targeting this synthetic lethal interaction by recapitulating the phenotype using BT5, a first-in-class pharmacologic inhibitor against NSD1. …”
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1626
Genetic determinants of skin ageing: a systematic review and meta-analysis of genome-wide association studies and candidate genes
Published 2025-02-01“…Abstract Background Skin ageing is influenced by complex genetic factors. Various phenotypes such as wrinkling, pigmentation changes, and skin cancers have been linked to specific genetic loci. …”
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1627
Intrauterine growth‐restricted pregnant rats, from placental ischemic dams, display preeclamptic‐like symptoms: A new rat model of preeclampsia
Published 2024-11-01“…Furthermore, this study shows that pregnant IUGR rats exhibit a preeclamptic‐like phenotype, suggesting a new epigenetic model of PE.…”
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1628
A Multifunctional Cobalt‐Containing Implant for Treating Biofilm Infections and Promoting Osteointegration in Infected Bone Defects Through Macrophage‐Mediated Immunomodulation
Published 2025-01-01“…RNA sequencing analysis reveals the potential mechanism of Co2+ in regulating the polarization of macrophages toward the anti‐inflammatory M2 phenotype, which is crucial for creating an immune environment conducive to bone healing. …”
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1629
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa
Published 2015-01-01“…A homozygous mutation c.437T<A (p.V146D) in the retinol dehydrogenase 12 (RDH12) gene, which encodes an NADPH-dependent retinal reductase, was identified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. …”
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1630
Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia
Published 2014-01-01“…NR3C1 alleles were genotyped, and association analyses with phenotype were done with Chi-square, t-test, and multivariate and regression analysis. …”
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1631
Th2-Immune Polarizing and Anti-Inflammatory Properties of Insulin Are Not Effective in Type 2 Diabetic Pregnancy
Published 2020-01-01“…Concomitantly, Th1/Th2 ratio, determined as IFN-γ/IL-4, was shifted towards Th1 phenotype in women with GDM and insulin-treated T2D pregnant women. …”
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1632
Discovery and in vitro characterization of a human anti-CD36 scFv
Published 2025-02-01“…In macrophage-like THP-1 cells, D11 impaired the acquisition of foam cell phenotype induced by oxLDL, decreasing lipid droplet content and the expression of lipid metabolism genes. …”
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1633
Clinical and Imaging Features of Familial and Sporadic Multiple Sclerosis
Published 2025-01-01“…Conclusion: FMS differs from SMS with an earlier onset, predominantly relapsing-remitting phenotype, lower diplopia incidence, lower EDSS scores, fewer periventricular lesions and larger smallest lesions.…”
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1634
RETRACTED ARTICLE: P16INK4a Deletion Ameliorated Renal Tubulointerstitial Injury in a Stress-induced Premature Senescence Model of Bmi-1 Deficiency
Published 2017-08-01“…Abstract To determine whether p16INK4a deletion ameliorated renal tubulointerstitial injury by inhibiting a senescence-associated secretory phenotype (SASP) in Bmi-1-deficient (Bmi-1−/−) mice, renal phenotypes were compared among 5-week-old Bmi-1 and p16INK4a double-knockout, and Bmi-1−/− and wild-type mice. …”
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1635
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
Published 2016-01-01“…And the results showed that the mutation cosegregated with the disease phenotype in the family and was absolutely absent in 1000 ethnicity-matched control samples. …”
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1636
Time-Qualified Patterns of Variation of PPARγ, DNMT1, and DNMT3B Expression in Pancreatic Cancer Cell Lines
Published 2012-01-01“…In conclusion, PPARG and DNMTs expression is characterized by different time-qualified patterns in cell lines derived from human PC, and this heterogeneity could influence cell phenotype and human disease behaviour.…”
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1637
Erythrocyte Shape Abnormalities, Membrane Oxidative Damage, and β-Actin Alterations: An Unrecognized Triad in Classical Autism
Published 2013-01-01“…Here, we investigated RBC morphology by scanning electron microscopy in patients with classical autism, that is, the predominant ASDs phenotype (age range: 6–26 years), nonautistic neurodevelopmental disorders (i.e., “positive controls”), and healthy controls (i.e., “negative controls”). …”
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1638
Mutation in the COL2A1 gene is associated with acetabular dysplasia
Published 2025-01-01“…The identification of the COL2A1 gene mutation in this present case represents a novel clinical phenotype, expanding the spectrum of disorders associated with COL2A1 mutations.…”
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1639
Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria
Published 2025-01-01“…Abstract Objective We describe neurologic phenotype, clinical associations, and outcomes in autoimmune brainstem encephalitis. …”
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1640
RamA upregulates the ATP-binding cassette transporter mlaFEDCB to mediate resistance to tetracycline-class antibiotics and the stability of membranes in Klebsiella pneumoniae
Published 2025-02-01“…ABSTRACT RamA is an intrinsic regulator in Klebsiella pneumoniae, belonging to the AraC family of transcription factors and conferring a multidrug resistance phenotype, especially for tetracycline-class antibiotics. …”
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