Search Results - "Keegan, E"
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A Primer on Bayesian Inference for Biophysical Systems
Published in Biophysical journal (05-05-2015)“…Bayesian inference is a powerful statistical paradigm that has gained popularity in many fields of science, but adoption has been somewhat slower in…”
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Determination of parameter identifiability in nonlinear biophysical models: A Bayesian approach
Published in The Journal of general physiology (01-03-2014)“…A major goal of biophysics is to understand the physical mechanisms of biological molecules and systems. Mechanistic models are evaluated based on their…”
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3
Inferring subunit stoichiometry from single molecule photobleaching
Published in The Journal of general physiology (01-06-2013)“…Single molecule photobleaching is a powerful tool for determining the stoichiometry of protein complexes. By attaching fluorophores to proteins of interest,…”
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Insights into DNA-binding motifs and mechanisms of Francisella tularensis novicida two-component system response regulator proteins QseB, KdpE, and BfpR
Published in Biochemical and biophysical research communications (30-08-2024)“…Two component system bacterial response regulators are typically DNA-binding proteins which enable the genetic regulation of many adaptive bacterial behaviors…”
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5
Analyzing Single-Molecule Time Series via Nonparametric Bayesian Inference
Published in Biophysical journal (03-02-2015)“…The ability to measure the properties of proteins at the single-molecule level offers an unparalleled glimpse into biological systems at the molecular scale…”
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6
Nasal Epithelial Cell-Based Models for Individualized Study in Cystic Fibrosis
Published in International journal of molecular sciences (24-04-2021)“…The emergence of highly effective CFTR modulator therapy has led to significant improvements in health care for most patients with cystic fibrosis (CF). For…”
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7
Winter Rye Cover Crop Impacts on Runoff Water Quality in a Northern New York (USA) Tile-Drained Maize Agroecosystem
Published in Water, air, and soil pollution (01-02-2020)“…Nonpoint source phosphorus (P) and nitrogen (N) pollution from agriculture is a global concern. Planting a cover crop after harvesting annual crops such as…”
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Becoming a birth mother in the context of a planned same-sex family: 'As amazing as it is, it's kind of a tough road to navigate'
Published in Journal of family studies (04-03-2023)“…This qualitative study explored how ten birth mothers in same-sex relationships in Ireland experienced becoming a mother. Semi-structured, face-to-face…”
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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Published in Frontiers in molecular neuroscience (04-04-2018)“…Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum…”
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10
Periurethral injection therapy for urinary incontinence in women
Published in Cochrane database of systematic reviews (01-01-2007)“…Periurethral or transurethral injection of bulking agents is a surgical procedure most often used for the treatment of stress urinary incontinence a common,…”
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Genotype–phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
Published in Pediatric research (01-03-2020)“…Background As clinical exome sequencing (CES) becomes more common, understanding which patients are most likely to benefit and in what manner is critical for…”
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MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-06-2017)“…Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex‐determining genes. MAP3K1 encodes a signal transduction…”
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13
Telomere Protection by TPP1 Is Mediated by POT1a and POT1b
Published in Molecular and Cellular Biology (01-02-2010)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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14
Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia
Published in American journal of human genetics (01-02-2003)“…Gap junctions are assemblies of intercellular channels that regulate a variety of physiologic and developmental processes through the exchange of small ions…”
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Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes
Published in Current genomics (01-02-2016)“…The Bladder-Exstrophy-Epispadias Complex (BEEC) represents the severe end of the urorectal malformation spectrum, and has a profound impact on continence, and…”
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16
Trauma as a Public Health Moment: Addressing Vaccine Uptake in Trauma Patients
Published in Annals of surgery open (01-12-2023)“…Our objective was to identify factors associated with COVID-19 vaccination in trauma patients and to provide an opportunity for patients to engage in…”
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Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5‐alpha reductase type 2 deficiency
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-06-2017)“…Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is…”
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TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis
Published in JCI insight (10-05-2021)“…Telomerase catalyzes chromosome end replication in stem cells and other long-lived cells. Mutations in telomerase or telomere-related genes result in diseases…”
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Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression
Published in PLoS genetics (01-02-2013)“…The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial…”
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Identification of critical regions for clinical features of distal 10q deletion syndrome
Published in Clinical genetics (01-07-2009)“…Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence…”
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