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| http://dx.doi.org/10.1002/ana.24835 | DOI Listing |
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Architecture of the Sap S-layer of revealed by integrative structural biology.
Proc Natl Acad Sci U S A
December 2024
Structural and Molecular Microbiology, Vlaams Instituut voor Biotechnologie (VIB)-Vrije Universiteit Brussel (VUB) Center for Structural Biology, Vlaams Instituut voor Biotechnologie, Brussels 1050, Belgium.
is a spore-forming gram-positive bacterium responsible for anthrax, an infectious disease with a high mortality rate and a target of concern due to bioterrorism and long-term site contamination. The entire surface of vegetative cells in exponential or stationary growth phase is covered in proteinaceous arrays called S-layers, composed of Sap or EA1 protein, respectively. The Sap S-layer represents an important virulence factor and cell envelope support structure whose paracrystalline nature is essential for its function.
View Article and Find Full Text PDFToward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
February 2024
National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
Purpose: The terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable discrepancy in the literature and across clinical variant reporting in the derivation and application of terms. Here, we standardize the terminology for the characterization of disease-gene relationships to facilitate harmonized global curation and to support variant classification within the ACMG/AMP framework.
View Article and Find Full Text PDFDriver gene combinations dictate cutaneous squamous cell carcinoma disease continuum progression.
Nat Commun
August 2023
School of Cancer Sciences, University of Glasgow, Glasgow, G61 1QH, UK.
Article Synopsis
- The study investigates the transition from actinic keratosis (AK) to cutaneous squamous cell carcinoma (cSCC), highlighting unclear mechanisms driving disease progression despite observed genetic mutations.
- RNA sequencing of 110 patient samples shows a progression from differentiated skin cells to a progenitor-like state, involving the suppression of genes responsible for skin cell differentiation and alterations in immune response.
- The research identifies a specific combination of tumor suppressor gene inactivation and Ras signaling activation that contributes to the development and progression of cSCC, providing insights for potential therapeutic interventions.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
medRxiv
April 2023
National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, London, UK.
Purpose: The terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable discrepancy in the literature and across clinical variant reporting in the derivation and application of terms. Here we standardize the terminology for the characterization of disease-gene relationships to facilitate harmonized global curation, and to support variant classification within the ACMG/AMP framework.
View Article and Find Full Text PDFKOOS score maps were externally validated to inform knee arthroplasty shared decision making.
Knee Surg Sports Traumatol Arthrosc
April 2023
Departments of Physical Therapy, Orthopaedic Surgery and Rheumatology, Virginia Commonwealth University, 900 East Leigh Street, Fourth Floor, Room 100, Richmond, VA, USA.
Purpose: The Knee injury and Osteoarthritis Outcome Survey (KOOS) profile of outcome measures are among the most commonly used outcome measures in knee arthroplasty (KA). The purpose was to develop and externally validate "score maps" (one-page figural depictions of most likely scores) for KOOS Pain and Function subscales to facilitate a variety of clinical decisions related to shared decision making prior to KA.
Methods: Presurgical KA data collected within 1 year of surgery and obtained in two independent studies were used in this cross-sectional study.
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