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    Academic Journals

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• The BBSome: a nexus controlling energy metabolism in the brain.

  Authors:Sandra Blaess and Dagmar WachtenFrom:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20212,417 words Report 1440LBardet-Biedl syndrome (BBS) is a syndromic ciliopathy that has obesity as a cardinal feature. BBS is caused by mutations in BBS genes. BBS proteins control primary cilia function, and BBS mutations therefore lead to...

• Neddylation stabilizes [Na.sub.v]1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models.

  Authors:Wenbing Chen, Bin Luo, Nannan Gao, Haiwen Li, Hongsheng Wang, Lei Li, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202110,281 words Report 1260LThe excitability of interneurons requires [Na.sub.v]1.1, the a subunit of the voltage-gated sodium channel. [Na.sub.v]1.1 deficiency and mutations reduce interneuron excitability, a major pathological mechanism for...

• Epilepsy channelopathies go neddy: stabilizing NaV1.1 channels by neddylation.

  Author:Stephen C. CannonFrom:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20212,107 words Report 1520LLoss-of-function mutations of SCN1A encoding the pore-forming a subunit of the [Na.sub.V]1.1 neuronal sodium channel cause a severe developmental epileptic encephalopathy, Dravet syndrome (DS). In this issue of the JCI,...

• Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.

  Authors:Quentin Raas, Malu-Clair van de Beek, Sonja Forss-Petter, Inge M.E. Dijkstra, Abigail Deschiffart, Briana C. Freshner, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202111,771 words Report 1360LX-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease caused by mutations in ABCD1, the peroxisomal very long-chain fatty acid (VLCFA) transporter. ABCD1 deficiency results in accumulation of...

• Artificial intelligence for automating the measurement of histologic image biomarkers.

  Author:Toby C. CornishFrom:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20212,460 words Report 1420LArtificial intelligence has been applied to histopathology for decades, but the recent increase in interest is attributable to well-publicized successes in the application of deep-learning techniques, such as...

• Lymphohematopoietic graft-versus-host responses promote mixed chimerism in patients receiving intestinal transplantation.

  Authors:Jianing Fu, Julien Zuber, Brittany Shonts, Aleksandar Obradovic, Zicheng Wang, Kristjana Frangaj, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202110,889 words Report 1610LIn humans receiving intestinal transplantation (ITx), long-term multilineage blood chimerism often develops. Donor T cell macrochimerism (>4%) frequently occurs without graft-versus-host disease (GVHD) and is associated...

• [CD8.sup.+] T cells fail to limit SIV reactivation following ART withdrawal until after viral amplification.

  Authors:Afam A. Okoye, Derick D. Duell, Yoshinori Fukazawa, Benjamin Varco-Merth, Alejandra Marenco, Hannah Behrens, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20219,743 words Report 1660LTo define the contribution of [CD8.sup.+] T cell responses to control of SIV reactivation during and following antiretroviral therapy (ART), we determined the effect of long-term [CD8.sup.+] T cell depletion using a...

• Long-term microstructure and cerebral blood flow changes in patients recovered from COVID-19 without neurological manifestations.

  Authors:Yuanyuan Qin, Jinfeng Wu, Tao Chen, Jia Li, Guiling Zhang, Di Wu, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20217,845 words Report 1370LBACKGROUND. The coronavirus disease 2019 (COVID-19) rapidly progressed to a global pandemic. Although some patients totally recover from COVID-19 pneumonia, the disease's long-term effects on the brain still need to be...

• Lysophospholipid acylation modulates plasma membrane lipid organization and insulin sensitivity in skeletal muscle.

  Authors:Patrick J. Ferrara, Xin Rong, J. Alan Maschek, Anthony R.P. Verkerke, Piyarat Siripoksup, Haowei Song, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20219,739 words Report 1330LAberrant lipid metabolism promotes the development of skeletal muscle insulin resistance, but the exact identity of lipid-mediated mechanisms relevant to human obesity remains unclear. A comprehensive lipidomic analysis...

• Selective expansion of regulatory T cells using an orthogonal IL-2/IL-2 receptor system facilitates transplantation tolerance.

  Authors:Toshihito Hirai, Teresa L. Ramos, Po-Yu Lin, Federico Simonetta, Leon L. Su, Lora K. Picton, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20219,130 words Report 1410LAdoptive transfer of Tregs has been shown to improve alloengraftment in animal models. However, it is technically challenging to expand Tregs ex vivo for the purpose of infusing large numbers of cells in the clinic. We...

• Genetic therapies for the first molecular disease.

  Authors:Phillip A. Doerfler, Akshay Sharma, Jerlym S. Porter, Yan Zheng, John F. Tisdale, and Mitchell J. WeissFrom:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202112,039 words Report 1390LSickle cell disease (SCD) is a monogenic disorder characterized by recurrent episodes of severe bone pain, multi-organ failure, and early mortality. Although medical progress over the past several decades has improved...

• Gluconeogenic enzyme PCK1 deficiency promotes CHK2 O-GlcNAcylation and hepatocellular carcinoma growth upon glucose deprivation.

  Authors:Jin Xiang, Chang Chen, Rui Liu, Dongmei Gou, Lei Chang, Haijun Deng, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20219,578 words Report 1360LAlthough cancer cells are frequently faced with a nutrient- and oxygen-poor microenvironment, elevated hexosaminebiosynthesis pathway (HBP) activity and protein O-GlcNAcylation (a nutrient sensor) contribute to rapid...

• Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.

  Authors:Canan Kasikara, Maaike Schilperoort, Brennan Gerlach, Chenyi Xue, Xiaobo Wang, Ze Zheng, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202111,082 words Report 1440LEfferocytosis, the process through which apoptotic cells (ACs) are cleared through actin-mediated engulfment by macrophages, prevents secondary necrosis, suppresses inflammation, and promotes resolution. Impaired...

• Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.

  Authors:Liheng Wang, Yang Liu, George Stratigopoulos, Sunil Panigrahi, Lina Sui, Yiying Zhang, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202111,650 words Report 1410LBardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and is characterized by hyperphagic obesity. To investigate the molecular basis of...

• Inhibiting the MNK1/2-eIF4E axis impairs melanoma phenotype switching and potentiates antitumor immune responses.

  Authors:Fan Huang, Christophe Goncalves, Margarita Bartish, Joelle Remy-Sarrazin, Mark E. Issa, Brendan Cordeiro, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202111,404 words Report 1450LMelanomas commonly undergo a phenotype switch, from a proliferative to an invasive state. Such tumor cell plasticity contributes to immunotherapy resistance; however, the mechanisms are not completely understood and thus...

• SUMOylation promotes extracellular vesicle-mediated transmission of lncRNA ELNAT1 and lymph node metastasis in bladder cancer.

  Authors:Changhao Chen, Hanhao Zheng, Yuming Luo, Yao Kong, Mingjie An, Yuting Li, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202110,303 words Report 1430LSmall ubiquitin-like modifier (SUMO) binding (termed SUMOylation) emerged as the inducer for the sorting of bioactive molecules into extracellular vesicles (EVs), triggering lymphangiogenesis and further driving tumor...

• TYRO3 induces anti-PD-1/PD-L1 therapy resistance by limiting innate immunity and tumoral ferroptosis.

  Authors:Zhou Jiang, Seung-Oe Lim, Meisi Yan, Jennifer L. Hsu, Jun Yao, Yongkun Wei, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20218,749 words Report 1440LImmune checkpoint blockade therapy has demonstrated promising clinical outcomes for multiple cancer types. However, the emergence of resistance as well as inadequate biomarkers for patient stratification have largely...

• Computerized tumor multinucleation index (MuNI) is prognostic in [p16.sup.+] oropharyngeal carcinoma.

  Authors:Can F. Koyuncu, Cheng Lu, Kaustav Bera, Zelin Zhang, Jun Xu, Paula Toro, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 20216,510 words Report 1380LBACKGROUND. Patients with [p16.sup.+] oropharyngeal squamous cell carcinoma (OPSCC) are potentially cured with definitive treatment. However, there are currently no reliable biomarkers of treatment failure for...

• Immunoregulatory and lipid presentation pathways are upregulated in human face transplant rejection.

  Authors:Thet Su Win, William J. Crisler, Beatrice Dyring-Andersen, Rachel Lopdrup, Jessica E. Teague, Qian Zhan, et al.From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202110,516 words Report 1390LBACKGROUND. Rejection is the primary barrier to broader implementation of vascularized composite allografts (VCAs), including face and limb transplants. The immunologic pathways activated in face transplant rejection...

• Identification of SARS-CoV-2-specific immune alterations in acutely ill patients.

  From:Journal of Clinical Investigation (Vol. 131, Issue 8) Peer-Reviewed

  Apr. 15, 202110,253 words Report 1500LDysregulated immune profiles have been described in symptomatic patients infected with SARS-CoV-2. Whether the reported immune alterations are specific to SARS-CoV-2 infection or also triggered by other acute illnesses...