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Arabinogalactan glycoprotein dynamics during the progamic phase in the tomato pistil.

Plant Reprod 2021 Apr 16. Epub 2021 Apr 16.

Department of Molecular, Cellular and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.

Key Message: Pistil AGPs display dynamic localization patterns in response to fertilization in tomato. SlyFLA9 (Solyc07g065540.1) is a chimeric Fasciclin-like AGP with enriched expression in the ovary, suggesting a potential function during pollen-pistil interaction. Read More

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MEK1/2 activity modulates TREM2 cell surface recruitment.

J Biol Chem 2020 Dec 25;296:100218. Epub 2020 Dec 25.

AbbVie Inc, Cambridge Research Center, Cambridge, Massachusetts, USA.

Rare sequence variants in the microglial cell surface receptor TREM2 have been shown to increase the risk for Alzheimer's disease (AD). Disease-linked TREM2 mutations seem to confer a partial loss of function, and increasing TREM2 cell surface expression and thereby its function(s) might have therapeutic benefit in AD. However, druggable targets that could modulate microglial TREM2 surface expression are not known. Read More

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December 2020

MAGI1 localizes to mature focal adhesion and modulates endothelial cell adhesion, migration and angiogenesis.

Cell Adh Migr 2021 Apr 6. Epub 2021 Apr 6.

Laboratory of Experimental and Translational Oncology, Pathology, Department of Oncology, Microbiology and Immunology, Faculty of Sciences and Medicine, University of Fribourg, Chemin du Musée 18, PER 17, CH-1700 Fribourg, Switzerland.

Membrane-associated guanylate kinase (MAGUK) with inverted domain structure-1 (MAGI1) is an intracellular adaptor protein that stabilizes intercellular adhesions and regulates vascular functions critical to maintain endothelial integrity and barrier function. Specifically, MAGI1 stabilizes tight and adherens junctions at the plasma membrane and connects them with the actin cytoskeleton. Here, we report that MAGI1 colocalizes at large, mature focal adhesions in human umbilical vein endothelial cells (HUVEC) and regulates focal adhesion dynamics. Read More

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Measuring spatial co-occurrences of species potentially involved in Leishmania transmission cycles through a predictive and fieldwork approach.

Sci Rep 2021 Mar 24;11(1):6789. Epub 2021 Mar 24.

Departamento de Ciencias Biológicas, Facultad de Ciencias, Centro de Investigaciones en Microbiología y Parasitología Tropical (CIMPAT), Universidad de Los Andes, Bogotá, Colombia.

The Leishmaniases are a group of neglected tropical diseases caused by different species of the protozoan parasite Leishmania, transmitted to its mammalian hosts by the bites of several species of female Phlebotominae sand flies. Many factors have contributed to shifts in the disease distribution and eco epidemiological outcomes, resulting in the emergence of Cutaneous Leishmaniasis outbreaks and the incrimination of vectors in unreported regions. New research development is vital for establishing the new paradigms of the present transmission cycles, hoping to facilitate new control strategies to reduce parasite transmission. Read More

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Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.

Eur J Med Genet 2021 Mar 18;64(5):104198. Epub 2021 Mar 18.

Dept of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.

More than two decades since the first clinical and radiological description of odontochondroplasia (ODCD) was reported, biallelic loss of function variants in the Thyroid hormone receptor interactor 11 gene (TRIP11) were identified, the same gene implicated in the lethal disorder achondrogenesis (ACG1A). Here we report the clinical and radiological follow-up of four ODCD patients, including two siblings and an adult who interestingly has the mildest form observed to date. Four TRIP11 variants were detected, two previously unreported. Read More

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Canonical and early lineage-specific stem cell types identified in planarian SirNeoblasts.

Cell Regen 2021 Mar 19;10(1):15. Epub 2021 Mar 19.

Westlake Laboratory of Life Sciences and Biomedicine, Key Laboratory of Growth Regulation and Translational Research of Zhejiang Province, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.

Background: The pluripotent stem cells in planarians, a model for tissue and cellular regeneration, remain further identification. We recently developed a method to enrich piwi-1+ cells in Schmidtea mediterranea, by staining cells with SiR-DNA and Cell Tracker Green, named SirNeoblasts that permits their propagation and subsequent functional study in vivo. Since traditional enrichment for planarian neoblasts by Hoechst 33342 staining generates X1 cells, blocking the cell cycle and inducing cytotoxicity, this method by SiR-DNA and Cell Tracker Green represents a complementary technological advance for functional investigation of cell fate and regeneration. Read More

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A Cas12a-based gene editing system for Phytophthora infestans reveals monoallelic expression of an elicitor.

Mol Plant Pathol 2021 Mar 16. Epub 2021 Mar 16.

Department of Microbiology and Plant Pathology, University of California, Riverside, California, USA.

Phytophthora infestans is a destructive pathogen of potato and a model for investigations of oomycete biology. The successful application of a CRISPR gene editing system to P. infestans is so far unreported. Read More

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Semi-automated NMR Pipeline for Environmental Exposures: New Insights on the Metabolomics of Smokers versus Non-smokers.

Pac Symp Biocomput 2021 ;26:316-327

Huck Institutes of the Life Sciences, The Pennsylvania State University, 512 Wartik, University Park, PA 16802, USA†Morris A. Aguilar was supported on the PSU/NIDDK funded Integrative Analysis of Metabolic Phenotypes (IAMP) Predoctoral Training Program (T32DK120509). Research reported in this publication was supported by the National Cancer Institute of the National Institutes of Health under Award Number R01CA239256. This work was supported by the USDA National Institute of Food and Agriculture and Hatch Appropriations under Project #PEN04275 and Accession #1018544, Huck Institutes for the Life Sciences, Penn State Cancer Institute, and the Dr. Frances Keesler Graham Early Career Professorship.,

Environmental exposure pathophysiology related to smoking can yield metabolic changes that are difficult to describe in a biologically informative fashion with manual proprietary software. Nuclear magnetic resonance (NMR) spectroscopy detects compounds found in biofluids yielding a metabolic snapshot. We applied our semi-automated NMR pipeline for a secondary analysis of a smoking study (MTBLS374 from the MetaboLights repository) (n = 112). Read More

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January 2021

Transdural Spinal Cord Herniation: An Exceptional Complication of Thoracoscopic Discectomy: 2-Dimensional Operative Video.

Oper Neurosurg (Hagerstown) 2021 Feb 27. Epub 2021 Feb 27.

Department of Spine surgery, Hôpital Pierre Wertheimer, Hospices Civils de Lyon, Lyon, France.

Thoracic disc herniation is a rare and severe condition, whose treatment may have complications including dural tears. Although benign in most cases, dural tears may induce iatrogenic transdural herniation of the spinal cord. The video demonstrates the diagnosis and surgical treatment of iatrogenic transdural herniation of the spinal cord. Read More

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February 2021

Symptoms in Nepali Patients with Incurable Cancers: Implications for Interventions.

Indian J Palliat Care 2020 Oct-Dec;26(4):476-478. Epub 2020 Nov 19.

Department of Medical Oncology, The National Academy of Medical Sciences, Kathmandu, Nepal.

Aim: The poor quality and limited extent of palliative care services are of concern across the globe. To identify and measure patients' symptoms in Nepal, using a cell phone questionnaire platform, the investigators conducted and previously reported a cross-sectional study of Nepali adults. The unreported details of pain and other symptoms in these study data are here considered together with possible explanations and implications for interventions to lessen these symptoms. Read More

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November 2020

Novel and mutations associated with azole resistance in .

Antimicrob Agents Chemother 2021 Feb 22. Epub 2021 Feb 22.

Institute of Microbiology, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

is a novel species that has spread in all continents causing nosocomial outbreaks of invasive candidiasis. has the ability to develop resistance to all antifungal drug classes. Notably, many isolates are resistant to the azole drug fluconazole, a standard therapy of invasive candidiasis. Read More

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February 2021

Spontaneous Thrombosis of an Isolated Internal Iliac Artery Aneurysm.

Ann Vasc Surg 2021 Feb 5. Epub 2021 Feb 5.

Division of Vascular Surgery, Department of Surgery, University of Maryland School of Medicine, Baltimore, MD.

Background: Isolated internal iliac artery aneurysms (IIAAs) are uncommon but potentially morbid lesions that are a challenge to monitor and treat. However, given the small numbers of reported cases and high rates of incidentally discovered lesions, the natural history of isolated IIAAs is not well characterized. This case describes an atypical and previously unreported spontaneous thrombosis of an isolated IIAA, a lesion typically thought to progressively enlarge and rupture. Read More

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February 2021

Familial Risks between Pernicious Anemia and Other Autoimmune Diseases in the Population of Sweden.

Autoimmune Dis 2021 12;2021:8815297. Epub 2021 Jan 12.

Center for Primary Health Care Research, Lund University, Malmö, Sweden.

Background: Pernicious anemia (PA) is an autoimmune disease (AID) which is caused by lack of vitamin B12 (cobalamin) due to its impaired uptake. PA is a multifactorial disease which is associated with a number of other AID comorbidities and which is manifested as part of autoimmune polyglandular syndrome. Due to the shortage of family studies on PA, we planned to address the problem by assessing familial risks for concordant PA between family members and for discordant PA in families of other AID patients. Read More

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January 2021

Shape matters: the relationship between cell geometry and diversity in phytoplankton.

Ecol Lett 2021 Apr 20;24(4):847-861. Epub 2021 Jan 20.

Institute for Chemistry and Biology of the Marine Environment, University of Oldenburg, Oldenburg, Germany.

Size and shape profoundly influence an organism's ecophysiological performance and evolutionary fitness, suggesting a link between morphology and diversity. However, not much is known about how body shape is related to taxonomic richness, especially in microbes. Here we analyse global datasets of unicellular marine phytoplankton, a major group of primary producers with an exceptional diversity of cell sizes and shapes and, additionally, heterotrophic protists. Read More

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Octopus vulgaris ink extracts exhibit antioxidant, antimutagenic, cytoprotective, antiproliferative, and proapoptotic effects in selected human cancer cell lines.

J Food Sci 2021 Feb 18;86(2):587-601. Epub 2021 Jan 18.

Departamento de Investigación y Posgrado en Alimentos, Universidad de Sonora, Hermosillo, Sonora, 83000, México.

Cancer is a noncommunicable disease of rising worldwide concern. Marine food products such as Octopus vulgaris ink (OI) could be sources of compounds addressing these concerns. This study aimed to evaluate the antimutagenic, cytoprotective, antiproliferative, proapoptotic, and antioxidant capacity of OI extracts on human cancer cell lines (22Rv1, HeLa, A549). Read More

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February 2021

Feasibility of long-term continuous flow total heart replacement in calves.

Int J Artif Organs 2021 Jan 11:391398820987851. Epub 2021 Jan 11.

Cardiovascular Surgical Research Laboratory, Texas Heart Institute, Houston, TX, USA.

Introduction: Implementation of continuous flow (CF) technology in modern ventricular assist devices (VAD) has afforded a wealth of engineering and design advantages in the development of a total artificial heart (TAH). However, clinical application of CF has created a unique physiologic state, the consequences of which remain largely unknown. We sought to evaluate clinical and biochemical markers of end-organ function in calves supported with biventricular CF VADs for more than 30 days. Read More

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January 2021

Neuroanatomical changes associated with conduct disorder in boys: influence of childhood maltreatment.

Eur Child Adolesc Psychiatry 2021 Jan 4. Epub 2021 Jan 4.

Medical Psychological Center of Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

Childhood maltreatment (CM) poses a serious risk to the physical, emotional and psychological well-being of children, and can advance the development of maladaptive behaviors, including conduct disorder (CD). CD involves repetitive, persistent violations of others' basic rights and societal norms. Little is known about whether and how CM influences the neural mechanisms underlying CD, and CD-characteristic neuroanatomical changes have not yet been defined in a structural magnetic resonance imaging (sMRI) study. Read More

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January 2021

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

Neurol Genet 2021 Feb 24;7(1):e536. Epub 2020 Dec 24.

Medical Genetics Unit (R.S., R.R., F.F., C.T., A.M., M.N., F.G., A.F.), Department of Medical Sciences, University of Ferrara, Italy; Neurologie (Y.S.), CHU de Benbadis, Constantine, Algérie; 2nd Department of Paediatrics Clinic (L.S., A.H.), Semmelweis University; Institute of Genomic Medicine and Rare Disorders (B.F., M.J.M.), Semmelweis University, Budapest, Hungary; Department of Medical Genetics (L.A.), Medical University, Varna, Bulgaria; Department of Pediatrics (I. Litvinenko), Medical University Sofia; Department of Child Neurology (I. Litvinenko), University Pediatric Hospital "Prof. Ivan Mitev", Sofia; Department Pediatrics (I.I.), St. George University Hospital, Medical University Plovdiv, Bulgaria; Pediatric Neurology Department (Y.V.), Pediatric Neurologist County Clinical Emergency Hospital of Constanta; G. Curteanu Municipal Clinical Hospital Oradea (O.A.I.); Department of Neuroscience (M.V., M. Militaru), Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca; Pediatric Neurology Department (C.B., N.B.), "Alexandru Obregia" Clinical Psychiatry Hospital, Bucharest; "Grigore T Popa" University of Medicine and Pharmacy (B.L., C.R., M.P.); "Sfanta Maria" Children's Hospital (B.L., C.R., M.P.); Pediatric Clinical Hospital Sibiu (G.V.); "Dr. Victor Gomoiu" Children's Hospital (D.E., D. Vasile, M.S.); "Carol Davila" University of Medicine and Pharmacy (M.S., N.B.), Bucharest, Romania; Russian Children Neuromuscular Center (D. Vlodavets), Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia; Department of Neuroscience Neurology and Pediatric Neurology "Iuliu Hatieganu" University of Medicine and Pharmacy (M. Mager), Faculty of Medicine; Pediatric Neurology Department (M. Mager), Emergency Clinical Hospital for Children, Cluj-Napoca, Romania; Department of Basic and Clinical Sciences (T.K.), University of Nicosia, Cyprus; Department of Pediatrics (S.D.), General Hospital Zadar, Zadar, Croatia; Department of Paediatrics (I. Lehman, J.S.F.); University Hospital Centre Zagreb, ; Faculty of Medicine University of Osijek (J.S.F.), Croatia; University Hospital of Neurology and Psychiatry Sveti Naum (V.B.); Clinic of Neurology (V.G.), University Hospital Sofiamed; Sofia University "St. Kliment Ohridski" (V.G.)Bulgaria; Institute of Biomedical Sciences (B.B.), Faculty of Medicine, Vilnius University, Lithuania; Ali Ait Idir Hospital (S.D.B., S.M.-M.), Algiers, Algeria; University of Algiers I. Algeria (S.D.B., S.M.-M.); Center of Genomic Medicine (A.C.E.), University of Medicine and Pharmacy Victor Babes Timisoara; Regional Center of Medical Genetics Timis (A.C.E.), Clinical Emergency Hospital for Children Louis Turcanu Timisoara, Romania; Department of Neurology (A.L., A.P., A.K.-P.), Medical University of Warsaw, Poland; Institute of Neurology (A.S.), Psychiatry and Narkology National Academy of Medical Science of Ukraine; Neurologie (D.B.K., O.D.), CHU Tidjani Damerdji, Tlemcen, Algerie; and BGI-Shenzhen (M.F., Z.L.), Shenzhen, China.

Objective: Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin () gene mutations, either for disease prevention or personalized therapies. To evaluate the ethnic-related genetic assortments of mutations, which may impact on DMD genetic diagnosis pipelines, we studied 328 patients with DMD and BMD from non-European countries.

Methods: We performed a full DMD mutation detection in 328 patients from 10 Eastern European countries (Poland, Hungary, Lithuania, Romania, Serbia, Croatia, Bosnia, Bulgaria, Ukraine, and Russia) and 2 non-European countries (Cyprus and Algeria). Read More

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February 2021

On the Emergence of Tremor in Prodromal Parkinson's Disease.

J Parkinsons Dis 2021 ;11(1):261-269

Centre for Brain Health, Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.

Clinical, neuropathological and neuroimaging research suggests that pathological changes in Parkinson's disease (PD) start many years before the emergence of motor signs. Since disease-modifying treatments are likely to be most effective when initiated early in the disease process, there has been significant interest in characterizing prodromal PD. Some people with PD describe autonomic symptoms at the time of diagnosis suggesting that autonomic dysfunction is a common feature of prodromal PD. Read More

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January 2021

The underlying molecular mechanism and identification of transcription factor markers for laryngeal squamous cell carcinoma.

Bioengineered 2021 Dec;12(1):208-224

Department of Radiotherapy, First Affiliated Hospital of Guangxi Medical University , Nanning, Guangxi Zhuang Autonomous Region, P.R. China.

The screening and treatment of laryngeal squamous cell carcinoma (LSCC) still perplexes clinicians, making it necessary to explore new markers. To this end, this research examined the underlying molecular mechanism of LSCC based on high-throughput datasets ( = 249) from multiple databases. It also identified transcription factors (TFs) independently associated with LSCC prognosis. Read More

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December 2021

Catch composition and life history characteristics of sharks and rays (Elasmobranchii) landed in the Andaman and Nicobar Islands, India.

PLoS One 2020 29;15(10):e0231069. Epub 2020 Oct 29.

College of Science and Engineering, James Cook University, Townsville, Australia.

Detailed information on shark and ray fisheries in the Andaman and Nicobar Islands, India are limited, including information on the diversity and biological characteristics of these species. We carried out fish landing surveys in South Andamans from January 2017 to May 2018, a comprehensive and cost-effective way to fill this data gap. We sampled 5,742 individuals representing 57 shark and ray species landed from six types of fishing gears. Read More

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November 2020

A selective serotonin receptor agonist for weight loss and management of menopausal vasomotor symptoms in overweight midlife women: a pilot study.

Menopause 2020 11;27(11):1228-1235

Department of Medicine, Division of General Internal Medicine, Mayo Clinic, Rochester, MN.

Objective: Weight gain and vasomotor symptoms (VMS) are common complaints in midlife women going through the menopause transition. A selective serotonin 2C (5-HT2C) receptor agonist, lorcaserin, which was previously approved by the Food and Drug Administration for weight loss, has unreported observational evidence suggesting improvement in VMS with its use. The goal of this pilot study was to evaluate the efficacy of lorcaserin for weight loss and management of VMS in overweight midlife women. Read More

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November 2020

Tumor-infiltrating lymphocyte abundance and programmed death-ligand 1 expression in metaplastic breast carcinoma: implications for distinct immune microenvironments in different metaplastic components.

Virchows Arch 2021 Apr 21;478(4):669-678. Epub 2020 Oct 21.

Department of Oncology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, 10016, Taiwan.

Both stromal tumor-infiltrating lymphocytes (sTILs) and programmed death-ligand 1 (PD-L1) affect responses to immunotherapy; however, the extent of sTIL and PD-L1 expression within various metaplastic components in metaplastic breast carcinoma (MBC), which are critical for the characterization of immune microenvironments, remains unreported. We profiled sTIL infiltration and PD-L1 expression in different metaplastic components of specimens from 82 MBC patients. The overall positivity for high or intermediate (H/I) sTIL, immune cell-PD-L1 (IcPD-L1), and tumor cell-PD-L1 (TcPD-L1) was 34. Read More

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Expression of huntingtin-associated protein 1 in adult mouse dorsal root ganglia and its neurochemical characterization in reference to sensory neuron subpopulations.

IBRO Rep 2020 Dec 6;9:258-269. Epub 2020 Oct 6.

Division of Neuroanatomy, Department of Neuroscience, Yamaguchi University Graduate School of Medicine, 1-1-1 Minami-Kogushi, Ube, 755-8505, Japan.

Huntingtin-associated protein 1 (HAP1) is a polyglutamine (polyQ) length-dependent interactor with causal agents in several neurodegenerative diseases and has been regarded as a protective factor against neurodegeneration. In normal rodent brain and spinal cord, HAP1 is abundantly expressed in the areas that are spared from neurodegeneration while those areas with little HAP1 are frequent targets of neurodegeneration. We have recently showed that HAP1 is highly expressed in the spinal dorsal horn and may participate in modification/protection of certain sensory functions. Read More

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December 2020

Reconstructing the early global dynamics of under-ascertained COVID-19 cases and infections.

BMC Med 2020 10 22;18(1):332. Epub 2020 Oct 22.

Centre for Mathematical Modelling of Infectious Diseases, London School of Hygiene & Tropical Medicine, London, UK.

Background: Asymptomatic or subclinical SARS-CoV-2 infections are often unreported, which means that confirmed case counts may not accurately reflect underlying epidemic dynamics. Understanding the level of ascertainment (the ratio of confirmed symptomatic cases to the true number of symptomatic individuals) and undetected epidemic progression is crucial to informing COVID-19 response planning, including the introduction and relaxation of control measures. Estimating case ascertainment over time allows for accurate estimates of specific outcomes such as seroprevalence, which is essential for planning control measures. Read More

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October 2020

Novel mutations in TUBB8 expand the mutational and phenotypic spectrum of patients with zygotes containing multiple pronuclei.

Gene 2021 Feb 12;769:145227. Epub 2020 Oct 12.

Fertility Preservation Laboratory, Reproductive Medicine Center, Guangdong Second Provincial General Hospital, Guangzhou 510317, China; The Second School of Clinical Medicine, Southern Medical University, Guangzhou 510515, China. Electronic address:

After fertilization, parental chromosomes decondense and form pronuclei. During these processes, germ cell genomes merge and give rise to the zygotic genome. Multiple pronuclei (MPN) formation is usually caused by polyspermic fertilization or oocyte-derived meiotic failure, and account for 15-18% of cytogenetically abnormal cases among spontaneous abortions. Read More

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February 2021

Evaluating Multiple Domains of Health in High School Athletes With Sport-Related Concussion.

J Sport Rehabil 2020 Oct 10:1-7. Epub 2020 Oct 10.

Context: Concussions are shown to hinder multiple health dimensions, including health-related quality of life (HRQOL), suggesting a need for a whole-person approach to assessment and treatment. Patient-reported outcome measures are one method to gather the patient's perspective regarding their HRQOL.

Objective: To evaluate perceived HRQOL using the Patient-Reported Outcomes Measurement Information System Pediatric-25 subscale in patients throughout concussion recovery. Read More

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October 2020

Statistical modelling of bacterial promoter sequences for regulatory motif discovery with the help of transcriptome data: application to .

J R Soc Interface 2020 10 7;17(171):20200600. Epub 2020 Oct 7.

Université Paris-Saclay, INRAE, MaIAGE, Jouy-en-Josas, France.

Automatic de novo identification of the main regulons of a bacterium from genome and transcriptome data remains a challenge. To address this task, we propose a statistical model that can use information on exact positions of the transcription start sites and condition-dependent expression profiles. The central idea of this model is to improve the probabilistic representation of the promoter DNA sequences by incorporating covariates summarizing expression profiles (e. Read More

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October 2020

Developmental expression patterns of six6: A gene linked with spawning ecotypes in Atlantic salmon.

Gene Expr Patterns 2020 12 30;38:119149. Epub 2020 Sep 30.

Organismal and Evolutionary Biology Research Programme, University of Helsinki, Viikinkaari 9, 00014, Helsinki, Finland; Institute of Biotechnology, University of Helsinki, Finland. Electronic address:

The Atlantic salmon has been studied extensively, particularly as a model for understanding the genetic and environmental contributions to the evolution and development of life history traits. Expression pattern analysis in situ, however, is mostly lacking in salmon. We examine the embryonic developmental expression of six6, a candidate gene previously identified to be associated with spawning ecotypes and age at sexual maturity, in Atlantic salmon. Read More

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December 2020

Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.

Mol Biol Rep 2020 Oct 24;47(10):8311-8315. Epub 2020 Sep 24.

Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.

Pyruvate kinase deficiency (PKD) is the most common glycolytic defect leading to chronic nonspherocytic hemolytic anemia (CNSHA). Clinical manifestations of PKD reflect the symptoms and complications of the chronic hemolysis, including anemia, jaundice, bilirubin gallstones due to hyperbilirubinemia, splenomegaly and iron overload. In this study, we report the finding of a 5-months-old Turkish male newborn with moderate CNSHA and PKD. Read More

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October 2020