Search Results - "Bremer, Anna"
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PaOctβ2R: Identification and Functional Characterization of an Octopamine Receptor Activating Adenylyl Cyclase Activity in the American Cockroach Periplaneta americana
Published in International journal of molecular sciences (31-01-2022)“…Biogenic amines constitute an important group of neuroactive substances that control and modulate various neural circuits. These small organic compounds engage…”
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Neuroprotective Effect of Melatonin in a Neonatal Hypoxia-Ischemia Rat Model Is Regulated by the AMPK/mTOR Pathway
Published in Journal of the American Heart Association (01-10-2024)“…Melatonin has been shown to be neuroprotective in different animal models of neonatal hypoxic-ischemic brain injury. However, its exact molecular mechanism of…”
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3
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
Published in PLoS genetics (01-07-2011)“…In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the…”
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4
Drosophila FoxO Regulates Organism Size and Stress Resistance through an Adenylate Cyclase
Published in Molecular and Cellular Biology (01-10-2009)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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PB1709: A COMPLETE DIGITAL KARYOTYPE OF THE B‐CELL LEUKEMIA REH CELL LINE RESOLVED BY LONG‐READ SEQUENCING
Published in HemaSphere (08-08-2023)Get full text
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Neuroprotective Effect of Clemastine Improved Oligodendrocyte Proliferation through the MAPK/ERK Pathway in a Neonatal Hypoxia Ischemia Rat Model
Published in International journal of molecular sciences (01-08-2024)“…Neonatal hypoxic-ischemic encephalopathy is the most common cause of long-term disability in term neonates, and white matter injury is the primary cause of…”
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Mutation screening of melatonin-related genes in patients with autism spectrum disorders
Published in BMC medical genomics (08-04-2010)“…One consistent finding in autism spectrum disorders (ASD) is a decreased level of the pineal gland hormone melatonin and it has recently been demonstrated that…”
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A multiomic characterization of the leukemia cell line REH using short- and long-read sequencing
Published in Life science alliance (01-08-2024)“…The B-cell acute lymphoblastic leukemia (ALL) cell line REH, with the t(12;21) translocation, is known to have a complex karyotype defined by a series of…”
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Nucleolar retention of a translational C/EBPα isoform stimulates rDNA transcription and cell size
Published in The EMBO journal (03-03-2010)“…The messenger RNA of the intronless CEBPA gene is translated into distinct protein isoforms through the usage of consecutive translation initiation sites…”
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10
Rare copy number variants are common in young children with autism spectrum disorder
Published in Acta Paediatrica (01-06-2015)“…Aim Several studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the…”
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Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-03-2011)“…Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high‐resolution whole genome array‐based…”
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12
Nucleolar retention of a translational C/EBPa isoform stimulates rDNA transcription and cell size
Published in The EMBO journal (03-03-2010)“…The messenger RNA of the intronless CEBPA gene is translated into distinct protein isoforms through the usage of consecutive translation initiation sites…”
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Journal Article -
13
Nucleolar retention of a translational C/EBP[alpha] isoform stimulates rDNA transcription and cell size
Published in The EMBO journal (03-03-2010)“…The messenger RNA of the intronless CEBPA gene is translated into distinct protein isoforms through the usage of consecutive translation initiation sites…”
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Journal Article -
14
Unraveling Genetic Mechanisms in Autism Spectrum Disorders
Published 01-01-2011“…Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by impairments in socialization and communication accompanied by…”
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Dissertation -
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Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01-01-2010)“…The autism spectrum disorder (ASD) is a heterogenous condition characterized by impaired socialization and communication in association with stereotypic…”
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16
Characterisation of hairy cell leukaemia by tiling resolution array-based comparative Genome hybridisation: a series of 13 cases and review of the literature
Published in European journal of haematology (01-01-2010)“…Little is known about the cytogenetic features and molecular mechanisms behind hairy cell leukaemia (HCL), despite the advances in diagnosis and treatment…”
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An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
Published in European journal of medical genetics (2009)“…Abstract Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical…”
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Journal Article -
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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome: e1002173
Published in PLoS genetics (01-07-2011)“…In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the…”
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Journal Article -
19
Dravet syndrome as a cause of epilepsy and learning disability
Published in Tidsskrift for den Norske Lægeforening (10-01-2012)“…Dravet syndrome is a severe, genetic epileptic encephalopathy with seizures starting during the first year of life. We present a review of the genetic and…”
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Journal Article -
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An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
Published in European journal of medical genetics (01-09-2009)“…Seven cases with an interstitial deletion of the short arm of chromosome 6 involving the 6p22 region have previously been reported. The clinical phenotype of…”
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Journal Article