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Nup107 contributes to the maternal to zygotic transition by preventing the premature nuclear export of pri-miRNA 427.

Development

January 2025

Pediatric Genomics Discovery Program, Departments of Pediatrics and Genetics, Yale School of Medicine, 333 Cedar Street, New Haven, CT, 06520, USA.

Emerging evidence suggests that the nuclear pore complex can have unique compositions and distinct nucleoporin functions in different cells. Here, we show that Nup107, a key component of the NPC scaffold, varies in expression over development: it is expressed at higher levels in the blastula compared to the gastrula suggesting a critical role prior to gastrulation. We find depletion of Nup107 affects the differentiation of the early germ layers leading to an expansion of the ectoderm at the expense of endoderm and mesoderm.

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Evoked potential metrics extracted from an EEG exam can provide novel sources of information regarding brain function. While the P300 occurring around 300 ms post-stimulus has been extensively investigated in relation to mild cognitive impairment (MCI), with decreased amplitude and increased latency, the P200 response has not, particularly in an oddball-stimulus paradigm. This study compares the auditory P200 amplitudes between MCI (28 patients aged 74(8)) and non-MCI, (35 aged 72(4)).

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Objective: Approximately 20% of familial cases of amyotrophic lateral sclerosis (ALS) are caused by mutations in the gene encoding superoxide dismutase 1 (SOD1). Epidemiological data have identified traumatic brain injury (TBI) as an exogenous risk factor for ALS; however, the mechanisms by which TBI may worsen SOD1 ALS remain largely undefined.

Methods: We sought to determine whether repetitive TBI (rTBI) accelerates disease onset and progression in the transgenic SOD1 mouse ALS model, and whether loss of the primary regulator of axonal degeneration sterile alpha and TIR motif containing 1 (Sarm1) mitigates the histological and behavioral pathophysiology.

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Background: The prognosis for non-small cell lung cancer (NSCLC) patients treated with standard platinum-based chemotherapy was suboptimal, with safety concerns. Following encouraging results from a preliminary phase I study, this phase II trial investigated the efficacy and safety of first-line sintilimab and anlotinib in metastatic NSCLC.

Methods: In this open-label, randomized controlled trial (NCT04124731), metastatic NSCLC without epithelial growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), or proto-oncogene tyrosine-protein kinase ROS (ROS1) mutations, and previous treatments for metastatic disease were enrolled.

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Background: White matter hyperintensities (WMH) are prominent neuroimaging markers of cerebral small vessel disease (CSVD) linked to cognitive decline. Nevertheless, the pathophysiological mechanisms underlying WMH remain unclear.

Objective: This study aimed to assess the structural decoupling index (SDI) as a novel metric for quantifying the brain's hierarchical organization associated with WMH in cognitively normal older adults

Methods: We analyzed data from 112 cognitively normal individuals with varying WMH burdens (43 high WMH burden and 69 low WMH burden).

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