75,104 results match your criteria molecular profile


CDKL5 deficiency disorder in males: Five new variants and review of the literature.

Eur J Paediatr Neurol 2021 Apr 30;33:9-20. Epub 2021 Apr 30.

Paediatric Neurology Unit V. Buzzi Children's Hospital Milan, Italy.

The X-linked Cyclin-Dependent Kinase-Like 5 (CDKL5) gene encodes a serine-threonine kinase highly expressed in the developing brain. Loss of function of CDKL5 is pointed out to underlie the CDKL5 Deficiency Disorder (CDD), an X-linked dominant disease characterized by early-onset epileptic encephalopathy and developmental delay, usually affecting females more than males. To the best to our knowledge, only 45 males with CDD have been reported so far. Read More

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Role of cation size on swelling pressure and free energy of mica pores.

J Colloid Interface Sci 2021 Apr 20;599:694-705. Epub 2021 Apr 20.

Department of Chemical Engineering, Indian Institute of Technology Bombay, Mumbai, India. Electronic address:

The ion exchange capacity of clay plays an important role in many industrial applications ranging from radioactive waste disposal to cosmetics. However, swelling or shrinking of clay platelets due to water and ions adsorption in the interstitial zone is also a well-known phenomenon. For their applications, it is crucial to understand the stability of these layered materials, especially after exchange of interstitial ions with surrounding ions having different properties. Read More

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PEG-polyaminoacid based micelles for controlled release of doxorubicin: Rational design, safety and efficacy study.

J Control Release 2021 May 11. Epub 2021 May 11.

Department of Pharmaceutical and Pharmacological Sciences, University of Padova, via F. Marzolo 5, 35131 Padova, Italy.

A library of amphiphilic monomethoxypolyethylene glycol (mPEG) terminating polyaminoacid co-polymers able to self-assemble into colloidal systems was screened for the delivery and controlled release of doxorubicin (Doxo). mPEG-Glu/Leu random co-polymers were generated by Ring Opening Polymerization from 5 kDa mPEG-NH macroinitiator using 16:0:1, 8:8:1, 6:10:1, 4:12:1 γ-benzyl glutamic acid carboxy anhydride monomer/leucine N-carboxy anhydride monomer/PEG molar ratios. Glutamic acid was selected for chemical conjugation of Doxo, while leucine units were introduced in the composition of the polyaminoacid block as spacer between adjacent glutamic repeating units to minimize the steric hindrance that could impede the Doxo conjugation and to promote the polymer self-assembly by virtue of the aminoacid hydrophobicity. Read More

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Molecular Analysis of an Abdominal Wall Cesarean Section Endometrioid Carcinoma.

Int J Surg Pathol 2021 May 14:10668969211018262. Epub 2021 May 14.

University Hospital of Saint-Etienne, France.

Malignant transformation of endometriosis is rare, and most cases concern the ovaries, while extraovarian cases are mostly found in the rectovaginal septum. Incisional adenocarcinoma is extremely rare, with only few cases reported in the literature, while their molecular profile remains unknown. Thus, we report on an abdominal wall cesarean section scar endometrioid adenocarcinoma studied by next-generation sequencing and microsatellite instability analysis. Read More

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Systematic application of fluorescence in situ hybridization and immunophenotype profile for the identification of ZNF384 gene rearrangements in B cell acute lymphoblastic leukemia.

Int J Lab Hematol 2021 May 14. Epub 2021 May 14.

Department of Haematology, Christian Medical College, Vellore, India.

Introduction: ZNF384 gene fusions resulting from translocations with several partner genes have been described in B cell acute lymphoblastic leukemia (B-ALL) with a characteristic immunophenotype (aberrant CD13 and or CD33 with dim CD10). The prognosis of patients with this rearrangement appears to depend on the fusion partner. ZNF384 rearrangements have been identified by high through put technologies such as RNA sequencing in most of the studies published. Read More

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Targeting p53-MDM2 interactions to identify small molecule inhibitors for cancer therapy: beyond "Failure to rescue".

J Biomol Struct Dyn 2021 May 14:1-19. Epub 2021 May 14.

Department of Biotechnology, School of Sciences (SOS), Federal University of Technology Akure, Akure, Nigeria.

At present, disrupting p53-MDM2 interactions through small molecule ligands is a promising approach to safe treatment and management of human cancer. Tumor cells unlike the normal cells, are rapidly evolving affecting the efficacy of many approved anti-cancer agents due to drug resistance. Therefore, identifying a potential anticancer compound is crucial. Read More

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Histopathological image and gene expression pattern analysis for predicting molecular features and prognosis of head and neck squamous cell carcinoma.

Cancer Med 2021 May 13. Epub 2021 May 13.

Department of Biotherapy, Cancer Center, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.

Background: Histopathological image features offer a quantitative measurement of cellular morphology, and probably help for better diagnosis and prognosis in head and neck squamous cell carcinoma (HNSCC).

Methods: We first used histopathological image features and machine-learning algorithms to predict molecular features of 212 HNSCC patients from The Cancer Genome Atlas (TCGA). Next, we divided TCGA-HNSCC cohort into training set (n = 149) and test set (n = 63), and obtained tissue microarrays as an external validation set (n = 126). Read More

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Bioactive phytocompound mulberroside C and endophytes of Morus alba as potential inhibitors of HIV-1 replication: a mechanistic evaluation.

HIV Med 2021 May 14. Epub 2021 May 14.

B. V. Patel Pharmaceutical Education and Research Development (PERD) Centre, Ahmedabad, India.

Objectives: Despite considerable advancement in antiretroviral therapy, development of safe, effective, and multi-targeted drugs for HIV still remains a big challenge. Endophytes are untouched and, hence, an important and novel sources in drug discovery endeavours. The present study was conducted to identify the anti-HIV compounds from Morus alba and endophytes isolated from it. Read More

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Proteomic insights into the photosynthetic divergence between bark and leaf chloroplasts in Salix matsudana.

Tree Physiol 2021 May 13. Epub 2021 May 13.

State Key Laboratory of Tree Genetics and Breeding, Key Laboratory of Tree Breeding and Cultivation of the State Forestry and grassland Administration, Research Institute of Forestry, Chinese Academy of Forestry, Beijing, 100091, PR China.

Bark chloroplasts play important roles in carbon balancing by recycling internal stem CO2 into assimilated carbon. The photosynthetic response of bark chloroplasts to interior stem environments has been studied recently in woody plants. However, the molecular regulatory mechanisms underlying specific characteristics of bark photosynthesis remain unclear. Read More

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NK Cells and PMN-MDSCs in the Graft From G-CSF Mobilized Haploidentical Donors Display Distinct Gene Expression Profiles From Those of the Non-Mobilized Counterpart.

Front Immunol 2021 27;12:657329. Epub 2021 Apr 27.

Immunology Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

A recent approach of hematopoietic stem cell (HSC) transplantation from haploidentical donors "mobilized" with G-CSF is based on the selective depletion of T and B lymphocytes from the graft. Through this approach, the patient receives both HSC and mature donor-derived effector cells (including NK cells), which exert both anti-leukemia activity and protection against infections. We previously showed that donor HSC mobilization with G-CSF results in accumulation in the graft of polymorphonuclear myeloid-derived suppressor cells (PMN-MDSCs), capable of inhibiting the anti-leukemia activity of allogeneic NK cells. Read More

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Potential Mechanism Prediction of Herbal Medicine for Pulmonary Fibrosis Associated with SARS-CoV-2 Infection Based on Network Analysis and Molecular Docking.

Front Pharmacol 2021 12;12:602218. Epub 2021 Apr 12.

Guang'anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, China.

Coronavirus Disease 2019 (COVID-19) is still a relevant global problem. Although some patients have recovered from COVID-19, the sequalae to the SARS-CoV-2 infection may include pulmonary fibrosis, which may contribute to considerable economic burden and health-care challenges. Convalescent Chinese Prescription (CCP) has been widely used during the COVID-19 recovery period for patients who were at high risk of pulmonary fibrosis and is recommended by the Diagnosis and Treatment Protocol for COVID-19 (Trial Version sixth, seventh). Read More

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MAOB rs3027452 Modifies Mood Improvement After Tryptophan Supplementation.

Int J Gen Med 2021 6;14:1751-1756. Epub 2021 May 6.

Department of Surgery, Biochemistry and Immunology School of Medicine, University of Malaga, Malaga, Spain.

Purpose: Tryptophan is the only precursor of serotonin, the hormone which helps regulate key human functions such as appetite, memory, mood, and sexual behavior. Connections have been identified between serotonin system dysfunction and the molecular etiology and treatment of mood disorders in a wide range of studies. Proposals have been put forward to co-administer tryptophan supplementation together with serotonin reuptake inhibitors in major depression patients, and also to exploit the sub-therapeutic depressive status in healthy populations. Read More

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Re-evaluating tumors of purported specialized prostatic stromal origin reveals molecular heterogeneity, including non-recurring gene fusions characteristic of uterine and soft tissue sarcoma subtypes.

Mod Pathol 2021 May 13. Epub 2021 May 13.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Tumors of purported specialized prostatic stromal origin comprise prostatic stromal sarcomas (PSS) and stromal tumors of uncertain malignant potential (STUMP). Prior studies have described their clinicopathologic characteristics, but the molecular features remain incompletely understood. Moreover, these neoplasms are morphologically heterogeneous and the lack of specific adjunctive markers of prostatic stromal lineage make precise definition more difficult, leading some to question whether they represent a specific tumor type. Read More

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Serum metabolic biomarkers for synucleinopathy conversion in isolated REM sleep behavior disorder.

NPJ Parkinsons Dis 2021 May 13;7(1):40. Epub 2021 May 13.

Neurodegenerative Diseases Research Group, Vall d'Hebron Research Institute (VHIR)-Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain.

Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is a prodromal stage of Lewy-type synucleinopathies (LTS), which can present either with an initial predominant parkinsonism (Parkinson's disease (PD)) or dementia (dementia with Lewy bodies (DLB)). To provide insights into the underlying pathogenic mechanisms, the lipoprotein and protein glycosylation profile of 82 iRBD patients, collected before and/or after their conversion to an overt LTS, and 29 matched control serum samples were assessed by nuclear magnetic resonance (NMR) spectroscopy. Data were statistically analyzed to identify altered metabolites and construct predictive models. Read More

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J Pharmacol Exp Ther 2021 May 13. Epub 2021 May 13.

University of California Irvine, United States

N-acylethanolamine acid amidase (NAAA) is an N-terminal cysteine hydrolase that stops the physiological actions of palmitoylethanolamide (PEA), an endogenous lipid messenger that activates the transcription factor, peroxisome proliferator-activated receptor-α. We have previously reported that the compound ARN19702 ((2-ethylsulfonylphenyl)-[(2S)-4-(6-fluoro-1,3-benzothiazol-2-yl)-2-methylpiperazin-1-yl]methanone) is an orally active, reversible NAAA inhibitor (median inhibitory concentration, IC, on human NAAA = 230 nM) that produces remarkable protective effects against multiple sclerosis in mice. In the present study, we assessed the profile of ARN19702 in mouse and rat models of acute and neuropathic pain. Read More

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Identifying background microbiomes in an evidence recovery laboratory: A preliminary study.

Sci Justice 2021 May 7;61(3):280-290. Epub 2021 Jan 7.

School of Life and Environmental Sciences, Deakin University, Geelong, Australia.

16S rRNA profiling of bacterial communities may have forensic utility in the identification or association of individuals involved with criminal activities. Microbial profiling of evidence may, in the future, be performed within environments currently utilised for human DNA recovery, such as a forensic biology laboratory. It would be important to establish the background microbiome of such an environment to determine the potential presence of human or environmental microbial signatures to assist forensic scientists in the appropriate interpretation of target microbial communities. Read More

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A forensic international market survey of condom lubricants and personal hygiene products using ATR-FTIR coupled to chemometrics.

Sci Justice 2021 May 10;61(3):235-248. Epub 2021 Feb 10.

School of Molecular and Life Sciences, Curtin University, GPO Box U1987, Perth, Western Australia 6845, Australia; Curtin Institute for Functional Molecules and Interfaces, Curtin University, GPO Box U1987, Perth, Western Australia 6845, Australia.

Condom residues may be encountered in forensic investigations as traces in sexual assault or rape cases. Casework studies have shown the value of distinguishing condom residues from other types of personal products used by women. However, up to now, there has been no investigation of their chemical variability within an international context. Read More

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De novo transcriptome analysis and comparative expression profiling of genes associated with the taste-modifying protein neoculin in Curculigo latifolia and Curculigo capitulata fruits.

BMC Genomics 2021 May 13;22(1):347. Epub 2021 May 13.

Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1, Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan.

Background: Curculigo latifolia is a perennial plant endogenous to Southeast Asia whose fruits contain the taste-modifying protein neoculin, which binds to sweet receptors and makes sour fruits taste sweet. Although similar to snowdrop (Galanthus nivalis) agglutinin (GNA), which contains mannose-binding sites in its sequence and 3D structure, neoculin lacks such sites and has no lectin activity. Whether the fruits of C. Read More

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Spatial and temporal super-resolution for fluorescence microscopy by a recurrent neural network.

Opt Express 2021 May;29(10):15747-15763

A novel spatial and temporal super-resolution (SR) framework based on a recurrent neural network (RNN) is demonstrated. In this work, we learn the complex yet useful features from the temporal data by taking advantage of structural characteristics of RNN and a skip connection. The usage of supervision mechanism is not only making full use of the intermediate output of each recurrent layer to recover the final output, but also alleviating vanishing/exploding gradients during the back-propagation. Read More

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Hybrids between HS-donors and betamethasone 17-valerate or triamcinolone acetonide inhibit mast cell degranulation and promote hyperpolarization of bronchial smooth muscle cells.

Eur J Med Chem 2021 May 5;221:113517. Epub 2021 May 5.

Department of Pharmacy, University of Naples «Federico II», Via D. Montesano 49, Naples, Italy. Electronic address:

Glucocorticoids represent the standard gold treatment of inflammation in asthmatic patients. More recently, HS has been described to exert positive effect on this disease. Bearing in mind that an improved pharmacological activity and a reduced toxicity can be obtained through hybridization of different molecules, simultaneously modulating multiple targets, we designed and synthesized novel betamethasone 17-valerate and triamcinolone acetonide hybrids with well-known HS-donor moieties. Read More

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Dopamine neuron-specific LRRK2 G2019S effects on gene expression revealed by translatome profiling.

Neurobiol Dis 2021 May 10:105390. Epub 2021 May 10.

Jungers Center for Neurosciences, Department of Neurology, Oregon Health and Science University, Portland, OR, USA. Electronic address:

Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common genetic cause of late-onset autosomal dominant Parkinson's disease. The pathogenic G2019S mutation enhances LRRK2 kinase activity and induces neurodegeneration in C. elegans, Drosophila and rodent models through unclear mechanisms. Read More

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"The pharmacological profile of SGLT2 inhibitors: Focus on mechanistic aspects and pharmacogenomics".

Eur J Pharmacol 2021 May 10:174169. Epub 2021 May 10.

Department of Human Genetics and Molecular Medicine Central University of Punjab, Bathinda, 151001, India. Electronic address:

Diabetes, characterized by high glucose levels, has been listed to be one of the world's major causes of death. Around 1.6 million deaths are attributed to this disease each year. Read More

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Mesoporous silica coated CeO nanozymes with combined lipid-lowering and antioxidant activity induce long-term improvement of the metabolic profile in obese Zucker rats.

Nanoscale 2021 May 14;13(18):8452-8466. Epub 2021 Apr 14.

Service of Biochemistry and Molecular Genetics, Hospital Clinic Universitari, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Carrer de Villarroel, 170, 08036 Barcelona, Spain.

Obesity is one of the most important public health problems that is associated with an array of metabolic disorders linked to cardiovascular disease, stroke, type 2 diabetes, and cancer. A sustained therapeutic approach to stop the escalating prevalence of obesity and its associated metabolic comorbidities remains elusive. Herein, we developed a novel nanocomposite based on mesoporous silica coated cerium oxide (CeO) nanozymes that reduce the circulating levels of fatty acids and remarkably improve the metabolic phenotype in a model of obese Zucker rats five weeks after its administration. Read More

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Methamphetamine Enhances HIV-Induced Aberrant Proliferation of Neural Progenitor Cells via the FOXO3-Mediated Mechanism.

Mol Neurobiol 2021 May 13. Epub 2021 May 13.

Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, 1011 NW 15th Street, Miami, FL, 33136, USA.

Maintaining an intact pool of neural progenitor cells (NPCs) is crucial for generating new and functionally active neurons. Methamphetamine (METH) can exacerbate the HIV-induced deficit of adult neurogenesis; however, potential mechanisms of this influence are still poorly understood. In the present study, we present evidence that chronic exposure to METH combined with brain infection by EcoHIV results in enhanced proliferation of NPCs in the subventricular zone (SVZ) in mice. Read More

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Quantitative and qualitative lipid improvement with chronic hepatitis C virus eradication using with direct-acting antivirals.

Hepatol Res 2021 May 13. Epub 2021 May 13.

Department of Medicine, Division of Gastroenterology and Hepatology, Shinshu University School of Medicine, Matsumoto, Japan.

Background And Aims: Direct-acting antivirals (DAAs) have revolutionized hepatitis C virus (HCV) therapy by providing a high sustained virological response (SVR) rate and subsequent favorable lipid increases. Proprotein convertase subtilisin-kexin like-9 (PCSK9) plays an important role in regulating quantitative lipid levels. This study examined the interactions between quantitative PCSK9 and lipid changes as well as qualitative lipid changes in terms of lectin-like oxidized low-density lipoprotein (LDL) receptor-1 ligand containing apolipoprotein B (LAB) and high-density lipoprotein (HDL)-cholesterol uptake capacity (HDL-CUC). Read More

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Microsecretory Adenocarcinoma of Salivary Glands: An Expanded Series of 24 Cases.

Head Neck Pathol 2021 May 12. Epub 2021 May 12.

Department of Pathology, UT Southwestern Medical Center, Dallas, TX, USA.

Microsecretory adenocarcinoma (MSA) is a recently described salivary gland tumor with a characteristic histologic and immunophenotypic profile and recurrent MEF2C-SS18 fusions. Because only six cases of MSA have been published, its complete clinicopathologic spectrum is unclear, and its biologic behavior has not been documented. Here, we present an updated and expanded experience of 24 MSA cases. Read More

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Multi-omics analysis of early leaf development in .

Patterns (N Y) 2021 Apr 9;2(4):100235. Epub 2021 Apr 9.

Max Planck Institute of Molecular Plant Physiology, Potsdam-Golm, Germany.

The growth of plant organs is driven by cell division and subsequent cell expansion. The transition from proliferation to expansion is critical for the final organ size and plant yield. Exit from proliferation and onset of expansion is accompanied by major metabolic reprogramming, and in leaves with the establishment of photosynthesis. Read More

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TLR7 and IL-6 differentially regulate the effects of rotarod exercise on the transcriptomic profile and neurogenesis to influence anxiety and memory.

iScience 2021 Apr 31;24(4):102384. Epub 2021 Mar 31.

Institute of Molecular Biology, Academia Sinica, Taipei 11529, Taiwan, ROC.

Voluntary exercise is well known to benefit brain performance. In contrast, forced exercise induces inflammation-related stress responses and may cause psychiatric disorders. Here, we unexpectedly found that rotarod testing, a frequently applied assay for evaluating rodent motor coordination, induces anxiety and alters spatial learning/memory performance of mice. Read More

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Synapsin-caveolin-1 gene therapy preserves neuronal and synaptic morphology and prevents neurodegeneration in a mouse model of AD.

Mol Ther Methods Clin Dev 2021 Jun 29;21:434-450. Epub 2021 Mar 29.

Veterans Affairs San Diego Healthcare System, San Diego, CA, USA.

Alzheimer's disease (AD) is the most common form of neurodegeneration and cognitive dysfunction in the elderly. Identifying molecular signals that mitigate and reverse neurodegeneration in AD may be exploited therapeutically. Transgenic AD mice (PSAPP) exhibit learning and memory deficits at 9 and 11 months, respectively, with associated decreased expression of caveolin-1 (Cav-1), a membrane/lipid raft (MLR) scaffolding protein necessary for synaptic and neuroplasticity. Read More

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