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Article
Open AccessNovel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormal...
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Article
Open AccessContrasting carbon cycle along tropical forest aridity gradients in West Africa and Amazonia
Tropical forests cover large areas of equatorial Africa and play a substantial role in the global carbon cycle. However, there has been a lack of biometric measurements to understand the forests’ gross and net...
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Article
Open AccessCrosstalk between colorectal CSCs and immune cells in tumorigenesis, and strategies for targeting colorectal CSCs
Cancer immunotherapy has emerged as a promising strategy in the treatment of colorectal cancer, and relapse after tumor immunotherapy has attracted increasing attention. Cancer stem cells (CSCs), a small subse...
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Article
Weakly negative permittivity: metal–organic frameworks derived cobalt nanoparticles encapsulated by positive-hexagon-shaped carbon nanosheets
Epsilon-negative metamaterials (ENMs) have gained significant attention due to their promising applications in various fields, such as microwave absorption or shielding, radio transmission, and solar energy ha...
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Article
Open AccessNovel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms b...
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Article
Open AccessPhenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsib...
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Article
Progress in percolative composites with negative permittivity for applications in electromagnetic interference shielding and capacitors
Negative permittivity (ε′ < 0), considered a supernormal property, has broadened the range of electromagnetic parameters. It provides a new principle for the design of high-end electronic devices, such as opti...
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Article
Enhanced electromagnetic wave absorption performance of hematite@carbon nanotubes/polyacrylamide hydrogel composites with good flexibility and biocompatibility
To expand the application field of electromagnetic wave functional materials based on light, thin, and cost-effective, the integration of the structure and function of electromagnetic wave materials is the key...
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Article
Open AccessMicroRNA miR-1275 coordinately regulates AEA/LPA signals via targeting FAAH in lipid metabolism reprogramming of gastric cancer
Glycerophospholipid signal and fatty acid metabolism are closely related to the occurrence and progression of tumours, and metabolic reprogramming caused by hydrolytic enzymes plays an important role in gastri...
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Article
Carbon nanotube/epoxy composites with low percolation threshold and negative dielectric constant
The tunability of negative dielectric constant value and its frequency dispersion determines the performance design and specific use of the functional devices. However, how to precisely tune the negative permi...
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Article
Open AccessA likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder, with only a few reported cases worldwide. Herein, we describe the cli...
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Article
An anti-freezing biomineral hydrogel of high strain sensitivity for artificial skin applications
Mineral hydrogels have caught a lot of attention for their strong competency as artificial skin-like materials. Nonetheless, it remains a great difficulty in fulfilling in one hydrogel system a range of key fu...
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Article
Micron-thick ternary relaxor 0.36Pb(In1/2Nb1/2)O3–0.36Pb(Mg1/3Nb2/3)O3–0.28PbTiO3 thin films with superior pyroelectric response on Si substrate
One of the critical challenges in develo** high-performance micromachined pyroelectric infrared detector array and piezoelectric micro/nanosensors lies in obtaining excellent sensing thin films with micron t...
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Article
Marker-assisted pyramiding of QTLs for heat tolerance and escape upgrades heat resilience in rice (Oryza sativa L.)
This study demonstrated that pyramiding of early morning flowering and heat tolerance QTLs (qEMF3 and qHTSF4.1) in rice is an efficient approach to maintain high spikelet fertility under high-temperature stress a...
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Article
Open AccessUltrafast visualization of incipient plasticity in dynamically compressed matter
Plasticity is ubiquitous and plays a critical role in material deformation and damage; it inherently involves the atomistic length scale and picosecond time scale. A fundamental understanding of the elastic-pl...
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Article
Open AccessDetection and clinical significance of circulating tumor cells in colorectal cancer
Histopathological examination (biopsy) is the “gold standard” for the diagnosis of colorectal cancer (CRC). However, biopsy is an invasive method, and due to the temporal and spatial heterogeneity of the tumor...
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Article
Open AccessAn accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease
Determining the etiology of end-stage renal disease (ESRD) constitutes a great challenge in the context of renal transplantation. Evidence is lacking on the genetic findings for adult renal transplant recipien...
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Article
Open AccessDynamics of binding ability prediction between spike protein and human ACE2 reveals the adaptive strategy of SARS-CoV-2 in humans
SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) is a novel coronavirus causing the COVID-19 pandemic in 2020. High adaptive plasticity on the spike protein of SASR-CoV-2 enables it to transmit acr...
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Article
Piezoelectric and pyroelectric properties of Mn-doped 0.36Pb(In1/2Nb1/2)O3–0.36Pb(Mg1/3Nb2/3)O3–0.28PbTiO3 ceramics
0.5 mol% Mn-doped 0.36Pb(In1/2Nb1/2)O3–0.36Pb(Mg1/3Nb2/3)O3–0.28PbTiO3 (Mn-PIMNT) ceramics were fabricated by a two-step precursor method. The phase structure, morphologies, and temperature-dependent dielectric, ...
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Article
Open AccessMulti-faceted epigenetic dysregulation of gene expression promotes esophageal squamous cell carcinoma
Epigenetic landscapes can shape physiologic and disease phenotypes. We used integrative, high resolution multi-omics methods to delineate the methylome landscape and characterize the oncogenic drivers of esoph...
