Search Results - "Mittendorf, Kathleen F"
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Tolerance to Changes in Membrane Lipid Composition as a Selected Trait of Membrane Proteins
Published in Biochemistry (Easton) (20-09-2011)“…Membrane lipid composition can vary dramatically across the three domains of life and even within single organisms. Here we review evidence that the…”
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Impact of Bilayer Lipid Composition on the Structure and Topology of the Transmembrane Amyloid Precursor C99 Protein
Published in Journal of the American Chemical Society (19-03-2014)“…C99 (also known as β-CTF) is the 99 residue transmembrane C-terminal domain (residues 672–770) of the amyloid precursor protein and is the immediate precursor…”
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Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22
Published in Journal of the American Chemical Society (15-07-2015)“…Despite broad biochemical relevance, our understanding of the physiochemical reactions that limit the assembly and cellular trafficking of integral membrane…”
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Longitudinal adherence to breast cancer surveillance following cancer genetic testing in an integrated health care system
Published in Breast cancer research and treatment (01-10-2023)“…Purpose Screening with mammography and breast magnetic resonance imaging (MRI) is an important risk management strategy for individuals with inherited…”
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The Homology Model of PMP22 Suggests Mutations Resulting in Peripheral Neuropathy Disrupt Transmembrane Helix Packing
Published in Biochemistry (Easton) (07-10-2014)“…Peripheral myelin protein 22 (PMP22) is a tetraspan membrane protein strongly expressed in myelinating Schwann cells of the peripheral nervous system. Myriad…”
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Peripheral myelin protein 22 alters membrane architecture
Published in Science advances (01-07-2017)“…Peripheral myelin protein 22 (PMP22) is highly expressed in myelinating Schwann cells of the peripheral nervous system. genetic alterations cause the most…”
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Literacy-adapted, electronic family history assessment for genetics referral in primary care: patient user insights from qualitative interviews
Published in Hereditary cancer in clinical practice (10-06-2022)“…Risk assessment for hereditary cancer syndromes is recommended in primary care, but family history is rarely collected in enough detail to facilitate risk…”
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Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study
Published in Cancer medicine (Malden, MA) (01-09-2023)“…Background Genetic testing can identify cancer risk early, enabling prevention and early detection. We describe use of risk management interventions following…”
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Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience
Published in HGG advances (14-07-2022)“…Integrating data across heterogeneous research environments is a key challenge in multi-site, collaborative research projects. While it is important to allow…”
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Protecting Privacy of Pregnant and LGBTQ+ Research Participants
Published in JAMA : the journal of the American Medical Association (14-05-2024)“…This Viewpoint summarizes existing federal regulations aimed at protecting research data, describes the challenges of enforcing these regulations, and…”
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Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study
Published in Hereditary cancer in clinical practice (16-12-2019)“…Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This study assesses trends in diagnosis of LS and adherence to recommended…”
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Primary Ovarian Insufficiency and Adolescent Vaccination
Published in Pediatrics (Evanston) (01-09-2018)“…Published case series have suggested a potential association between human papillomavirus (HPV) vaccination and primary ovarian insufficiency (POI). We…”
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Incidence of Adolescent Syncope and Related Injuries Following Vaccination and Routine Venipuncture
Published in Journal of adolescent health (01-04-2024)“…Vaccination is associated with syncope in adolescents. However, incidence of vaccine-associated syncope and resulting injury, and how it compares to syncope…”
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The My Cancer Genome clinical trial data model and trial curation workflow
Published in Journal of the American Medical Informatics Association : JAMIA (01-07-2020)“…Abstract Objective As clinical trials evolve in complexity, clinical trial data models that can capture relevant trial data in meaningful, structured…”
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Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study
Published in Journal of the American Medical Informatics Association : JAMIA (18-01-2024)“…Abstract Objective Developing targeted, culturally competent educational materials is critical for participant understanding of engagement in a large genomic…”
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While the revolution will not be crystallized, biochemistry reigns supreme
Published in Protein science (01-01-2017)“…Single‐particle cryo‐electron microscopy (EM) is currently gaining attention for the ability to calculate structures that reach sub‐5 Å resolutions; however,…”
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Risk‐reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system
Published in Cancer (15-08-2022)“…Background Germline genetic testing enables primary cancer prevention, including through prophylactic surgery. We examined risk‐reducing surgeries in…”
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Bicelles Rich in both Sphingolipids and Cholesterol and Their Use in Studies of Membrane Proteins
Published in Journal of the American Chemical Society (22-07-2020)“…How the distinctive lipid composition of mammalian plasma membranes impacts membrane protein structure is largely unexplored, partly because of the dearth of…”
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Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods
Published in Genetics in medicine (01-10-2022)“…Methodological challenges have limited economic evaluations of genome sequencing (GS) and exome sequencing (ES). Our objective was to develop conceptual…”
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