Defects in hair cells disrupt the development of auditory peripheral circuitry by Riley T. Bottom, Yijun Xu, Caroline Siebald, Jinsei Jung, Ulrich Müller

“…Similar defects are observed in mouse models for deafness caused by mutations in other genes with primary functions in hair cells. …”
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Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment by Francesca Conti, Francesca Conti, Mattia Moratti, Mattia Moratti, Elena Sabattini, Pier Luigi Zinzani, Pier Luigi Zinzani

“…Activated PI3K delta syndrome (APDS) is a primary immunodeficiency that is caused by mutations in the PI3K signalling pathway resulting in either gain-of-function or loss-of-function phenotypes of APDS 1 and 2. …”
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Hybrid optimal control for HIV multi-drug therapies: A finite set control transcription approach by Divya Thakur, Belinda Marchand

“…An STI treatment strategy may be beneficial in lowering the risk of HIV mutating to drug-resistant strains, and could provide patients with respite from toxic side effects of HAART. …”
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Impaired Fas-Fas Ligand Interactions Result in Greater Recurrent Herpetic Stromal Keratitis in Mice by Xiao-Tang Yin, Tammie L. Keadle, Jessicah Hard, John Herndon, Chloe A. Potter, Chelsea R. Del Rosso, Thomas A. Ferguson, Patrick M. Stuart

“…We demonstrate that infection of the cornea with HSV-1 results in increased functional expression of FasL and that mice expressing mutations in Fas (lpr) and FasL (gld) display increased recurrent HSK following reactivation compared to wild-type mice. …”
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Hemin Augments Growth and Hemoglobinization of Erythroid Precursors from Patients with Diamond-Blackfan Anemia by Eitan Fibach, Memet Aker

“…The disease is commonly caused by mutations in genes for ribosomal proteins. Despite the identification of disease causal genes, the disease pathogenesis is not completely elucidated. …”
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Identification of Mycobacterium tuberculosis and its Drug Resistance by Targeted Nanopore Sequencing Technology by Chen Tang, Feng Xu, Xiaoqun Zheng, Guangxin Xiang

“…Traditional culture-based phenotypic drug susceptibility testing is time-consuming, and PCR-based assays are restricted to detecting known mutational hotspots. In this study, we present a protocol leveraging high-throughput nanopore sequencing technology in conjunction with multiplex PCR, termed targeted nanopore sequencing, for the identification of MTB and analysis of its drug resistance. …”
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Peyer's Patches: The Immune Sensors of the Intestine by Camille Jung, Jean-Pierre Hugot, Frédérick Barreau

“…They have been associated with NOD2 mutations and PP dysfunction.…”
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Condensin-mediated restriction of retrotransposable elements facilitates brain development in Drosophila melanogaster by Bert I. Crawford, Mary Jo Talley, Joshua Russman, James Riddle, Sabrina Torres, Troy Williams, Michelle S. Longworth

“…Microcephaly is a disorder in which babies are born with significantly smaller head sizes and cortical volumes. Mutations in subunits of the DNA organizing complex condensin have been identified in microcephaly patients. …”
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MRI Findings in Neuroferritinopathy by Emiko Ohta, Yoshihisa Takiyama

“…Neuroferritinopathy is a neurodegenerative disease which demonstrates brain iron accumulation caused by the mutations in the ferritin light chain gene. On brain MRI in neuroferritinopathy, iron deposits are observed as low-intensity areas on T2WI and as signal loss on T2*WI. …”
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Autophagy in Inflammatory Diseases by Alexander J. S. Choi, Stefan W. Ryter

“…Autophagy provides a functional role in infectious diseases and sepsis by promoting intracellular bacterial clearance. Mutations in autophagy-related genes, leading to loss of autophagic function, have been implicated in the pathogenesis of Crohn's disease. …”
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Alström’s Syndrome, Leber’s Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis by Palaiologos Alexopoulos, Chrysanthos Symeonidis, Tryfon Rotsos

“…AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. …”
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Understanding the Pathogenesis of Angelman Syndrome through Animal Models by Nihar Ranjan Jana

“…The disease is primarily caused by deletion or loss-of-function mutations of the maternally inherited UBE3A gene located within chromosome 15q11-q13. …”
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Wallander's Dark Geopolitics by Stougaard-Nielsen Jakob

“…The overarching premise for this article is to explore the extent to which Henning Mankell's crime novels and their adaptations engage the character Wallander's own and “other” worlds with a cosmopolitan perspective, by considering the mutations of Wallander's fictional local world as intricately tied to discursive geopolitical realities of the post–Cold War world. …”
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Acral Melanoma: A Review of Its Pathogenesis, Progression, and Management by Soo Hyun Kim, Hensin Tsao

“…Unlike other cutaneous melanomas, acral melanoma does not arise from UV radiation exposure and is accordingly associated with a relatively low tumor mutational burden. Recent advances in genomic, transcriptomic, and epigenomic sequencing have revealed genetic alterations unique to acral melanoma, including novel driver genes, high copy number variations, and complex chromosomal rearrangements. …”
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Outlier Detection Method of Dam Monitoring Data Based on Robust Estimation and Variable Separation by LIANG Huibin, ZHANG Han, ZHANG Linsong, CAO Yuxin, ZHOU Jingren

“…The original monitoring data of dams is the most important data to grasp the operation behavior of the dams,and the outliers in the data are the focus during the analysis.Outliers are divided into two categories.One category is caused by measurement errors and should be eliminated or supplemented to avoid affecting subsequent analysis.The other is caused by structural mutations and should be highly valued.At present,main outlier recognition methods in dam engineering are based on traditional mathematical statistics and do not consider the influence of structural anomalies,which results in low recognition accuracy.Therefore,based on an in-depth study of dam monitoring data and outlier characteristics,this paper first employs robust MM estimation to eliminate the normal influence of internal and external factors and then adopts the residual measured value to eliminate the stable abnormal influence by difference before and after.Finally,according to the minimum value method,outlier identification is conducted on the residual values.The application of the measured dam data proves that the proposed method can identify the measurement outliers more effectively and robustly,and avoid the interference of structural stability anomalies.…”
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The Molecular Genetics and Cellular Mechanisms Underlying Pulmonary Arterial Hypertension by Rajiv D. Machado

“…The impact of identified mutations on the cell is examined, particularly, the determination of pathways disrupted in disease and critical to pulmonary vascular maintenance. …”
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Synaptic Paths to Neurodegeneration: The Emerging Role of TDP-43 and FUS in Synaptic Functions by Shuo-Chien Ling

“…TAR DNA-binding protein-43 KDa (TDP-43) and fused in sarcoma (FUS) as the defining pathological hallmarks for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), coupled with ALS-FTD-causing mutations in both genes, indicate that their dysfunctions damage the motor system and cognition. …”
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Alpinists and the Terrestrial Limits of Living Beings: an Atypical Contribution to Scientific Knowledge by Cédric Dentant, Pascal Mao, Sébastien Lavergne, Philippe Bourdeau

“…Mountaineers have thus mutated from collector bodies to co-producers of science.…”
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PROTAC technology for prostate cancer treatment by Zhen Wang, Dingpeng Zhang, Hiroyuki Inuzuka, Wenyi Wei

“…Key contributors to PrCa progression include genetic mutations, elevated androgen receptor expression, gene amplification, and the rise of androgen receptor splice variants. …”
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Les alpinistes et les limites terrestres du vivant : une contribution atypique à la connaissance scientifique by Cédric Dentant, Pascal Mao, Sébastien Lavergne, Philippe Bourdeau.

“…Mountaineers have thus mutated from collector bodies to co-producers of science.…”
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