Molecular Mechanisms of Oxytocin Signaling at the Synaptic Connection by Jan Bakos, Annamaria Srancikova, Tomas Havranek, Zuzana Bacova

“…Aberrant regulation of oxytocin signaling is associated with the etiology of neurodevelopmental disorders. …”
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Durable Leukemic Remission and Autologous Marrow Recovery with Random Chromosomal Abnormalities after Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Lymphocytic Leu... by Hidekazu Nishikii, Naoki Kurita, Atsushi Shinagawa, Tatsuhiro Sakamoto, Manabu Kusakabe, Yasuhisa Yokoyama, Takayasu Kato, Mamiko Sakata-Yanagimoto, Naoshi Obara, Yuichi Hasegawa, Naoya Nakamura, Shigeru Chiba

“…Cytogenetic analyses were repeatedly performed and demonstrated nonclonal chromosomal aberrations, although the patient did not develop any secondary malignancies. …”
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Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta by Sánchez-Ortiz David, Sánchez-Ortiz David, Deiros-Bronte Lucía, De la Hoz-Marañón Lucía, Feito-Rodríguez Marta, Rey-Lois Juvenal, Salas-Mera Diana, Labrandero-De Lera Carlos, López-Gutiérrez Juan Carlos, Gutiérrez-Larraya Federico

“…Significant advancements have been made in its diagnosis, imaging, and understanding of complications since 1996.Case SummaryWe describe the first diagnosis case of PHACE syndrome in a one-month and 19-day-old infant who presented with a large facial hemangioma and coarctation of the aorta originating from the left common carotid artery, along with an aberrant course of the right subclavian artery. The complementary diagnostic studies, their surgical correction, and their progression are described.DiscussionGiven the rarity of the syndrome (the PHACE Syndrome International Clinical Registry and Genetic Repository has over 270 enrolled individuals) and the importance of early diagnosis of some anomalies it comprises, particularly cardiovascular anomalies, dissemination is considered crucial for general and pediatric cardiologists.…”
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Kommerell’s Diverticulum: An Unusual Cause of Chronic Cough by Rahul Magazine, Charudutt Sambhaji, Ranjan Shetty, Umesh Goneppanavar

“…However, further imaging studies revealed presence of another associated pathology, a Kommerell’s diverticulum in association with a right aortic arch with aberrant left subclavian artery. The enlarged thyroid was not compressing the trachea, and its occurrence in this case could be incidental. …”
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Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing by Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

“…Abstract Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T cell receptor (TCR) complex, composed of TCRβ chain and pre-TCRα (pTCRα) chain heterodimers, giving rise to a diverse T cell repertoire. Genetic aberrations in key molecules involved in T cell development lead to profound T cell immunodeficiency. …”
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Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques by Yu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata, Hiroaki Miyata, Kaoru Fujinami, on behalf of Japan Eye Genetics Consortium

“…To illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 gene aberration in comparison with retinitis pigmentosa caused by EYS gene aberration and normal subjects. …”
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Oxamflatin and ascorbic acid improves developmental competence and quality of buffalo (Bubalis bubalis) cloned embryos by Sonal Gupta, Gaurav Tripathi, Kartikey Patel, Ram Parsad, Tanya Gupta, Naresh L. Selokar, Manoj Kumar Singh

“…However, the live off-spring production efficiency is low due to aberrant epigenetic reprogramming. Aberrant epigenetic marks can be modified by culturing donor cells and/or one cell stage fused embryo or both with epigenetic modifiers alone or in combination. …”
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Functional characterization of endocytic signals in the SynDIG/PRRT family members SynDIG1 and SynDIG4 in heterologous cells and neurons by David J. Speca, Chun-Wei He, Christina M. Meyer, Erin C. Scott, Erin C. Scott, Elva Díaz

“…This motif appears critical for proper SynDIG4 internalization, as SynDIG4 mutant 178-AVPA-181, which disrupts binding to μ2, induces aberrant SynDIG4 accumulation at the plasma-membrane of heterologous cells and primary rat hippocampal neurons. …”
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Danggui-Shaoyao-San Can Ameliorate Alzheimer’s Disease by Inhibiting Hippocampal Neuron Apoptosis: Findings from Serum Pharmacology by Zhang KX, Zhang JW, Jiang YH, Wang YR, Liu ZL, Ding PL, Wang XY, Cui WQ, Xu XQ, Wang YH

“…Serum Pharmacology revealed that the calcium signaling pathway and cAMP/PKA/CREB pathway may be a potential mechanism through which DSS treated AD. DSS can reduce aberrant phosphorylation of Tau and modulates cAMP/PKA/CREB pathway to improve cognition and apoptosis in AD mice. …”
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Les monstres d’Aubrey Beardsley et le « grotesque darwinien » by Catherine Delyfer

“…This paper thus looks into some of Beardsley’s black and white work in order to explore the interactions between evolution and aberration.…”
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DNA Methylation: Its Role and Interaction with Epigenetic Modifications in Cancer by Nasreddine El Omari, Saad Bakrim, Mohamed Bakha, Abdelaali Balahbib, Abdelhakim Bouyahya, Chrismawan Ardianto, Long Chiau Ming, Hooi Leng Ser

“…Currently, several investigations have highlighted the involvement of aberrant DNA methylation with certain tumors. Indeed, the methylation of antioncogenes and/or the demethylation of oncogenes are the major alterations that are strongly linked to human cancers. …”
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Evidence for a Potential Role of Metallothioneins in Inflammatory Bowel Diseases by Anouk Waeytens, Martine De Vos, Debby Laukens

“…Reports on MT expression in IBD are contradictory but clearly demonstrate a deviant MT expression supporting the idea that these aberrations in IBD require further clarification.…”
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Bilateral Popliteal Artery Entrapment Syndrome: An Approach to Diagnosis and Salvage by Aman Berry Williams

“…Usually, it arises from aberrant embryological development or acquired dysfunctionality of the popliteal artery and its surrounding musculotendinous structures in the popliteal fossa. …”
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Taming wild genomes: perspectives on mechanisms governing differential introgression in exotic rice germplasm and their applications in breeding by Avinash Shrestha, Christian J. Stephens, Rosalyn B. Angeles-Shim

“…We argue that while these aberrant introgression and segregation behavior of wild or distant chromosomes presents significant barriers in exploiting ancestral germplasm in breeding, the same mechanisms can also be exploited to enhance the transfer of wild alleles in a cultivated genetic background. …”
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Pathogenesis of Chronic Urticaria: An Overview by Sanjiv Jain

“…Numerical and behavioral alterations in basophils accompanied by changes in signaling molecule expression and function as well as aberrant activation of extrinsic pathway of coagulation are other alternative hypotheses. …”
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Cyclooxygenase Inhibition in Sepsis: Is There Life after Death? by David M. Aronoff

“…In light of this, cyclooxygenase (COX) inhibiting pharmacological agents have been extensively studied for their capacity to ameliorate the aberrant physiological and immune responses during severe sepsis. …”
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Role of Matrix Metalloproteinases in Angiogenesis and Its Implications in Asthma by Khuloud Bajbouj, Rakhee K. Ramakrishnan, Qutayba Hamid

“…Asthma is a chronic airway disorder associated with aberrant inflammatory and remodeling responses. Angiogenesis and associated vascular remodeling are one of the pathological hallmarks of asthma. …”
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Long-Term Effects of “Yer Malhami” Fertilizer: A Study on its Impact and Effectiveness by Sherkuzieva Guzal, Salomova Feruza

“…The results showed no significant disturbances in reproductive cycles or spermatogenesis, and chromosomal aberration tests showed no mutagenic effects. Although a slight decrease in fetal survival was observed at toxic doses, this was due to general toxicity rather than specific reproductive harm. …”
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Where does the truth lie? Petty violence in the light of court records in Poland in the first half of the 18th century by Bożena Popiołek

“…However, while male violence seemed quite natural, criminal acts committed by women were perceived as some form of aberration that went against the image of women widely accepted in the Polish history. …”
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Diffractive elements in thermal imaging monofocal dual-band objectives: design and technological aspects by G.I. Greisukh, I.A. Levin, O.A. Zakharov

“…Due to highly efficient diffractive microstructures, the longitudinal chromaticism of both objectives is reduced almost to the diffraction limit and, in combination with a low level of residual monochromatic aberrations at high light intensity, the maximum resolution is provided for uncooled microbolometers used as matrix receivers.…”
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