Results 221 to 230 of about 78,943 (328)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Molecular Detection of Alpha- and Betacoronaviruses in Bats from Afar Region, Ethiopia. [PDF]

Vet Med Sci
Mengesha B, Romha G, Gebrezgabiher G.
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Poly(styrene-<i>alt</i>-maleic acid)-assisted Membrane Solubilization for Improved Immobilization and Catalytic Performance of Soybean Lipolytic Enzymes in Electrospun Poly(vinyl alcohol) Fibers. [PDF]

ACS Omega
Thananukul K, Worajittiphon P, Khongphinitbunjong K, Suwantong O, Roytrakul S, Aluksanasuwan S, Derry MJ, Topham PD, Punyamoonwongsa P.   +8 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Hierarchical assembly of a Ti₂₄ metal-organic polyhedron via kinetic trapping of intermediates. [PDF]

Nat Commun
Li HZ, Yang CY, Gu C, Wang F, Zhang J.
europepmc   +1 more source

Interspecies Biofilm Dynamics Among Staphylococci: Inflammatory Contributions to Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Staphylococcus species are frequently isolated from the sinonasal niche of chronic rhinosinusitis (CRS) patients. While Staphylococcus aureus is often associated with recalcitrant CRS, Staphylococcus epidermidis and Staphylococcus lugdunensis are largely deemed commensal.
Sintayehu Ambachew, Mahnaz Ramezanpour, Clare M. Cooksley, Sholeh Feizi, Muhammed Awad, Kevin Aaron Fenix, Peter‐John Wormald, Alkis J. Psaltis, Sarah Vreugde   +8 more
wiley   +1 more source

Coupling Exponential Rolling Circle Amplification to Lateral Flow Devices for Point‐of‐Care Detection of Viral RNA

Angewandte Chemie, EarlyView.
A new exponential RCA (E‐RCA) system was developed and coupled to a toehold system for release of a bridging DNA, allowing for lateral flow detection. The E‐RCA method uses a secondary primer (P2) that binds RCA products (RCAP) to generate extended P2 products that can re‐prime a partially self‐complementary circular template, generating a complete ...
Amal Mathai, Monsur Ali, Yingfu Li, John D. Brennan   +3 more
wiley   +2 more sources

Multi-omics deep learning improves FDG PET-CT-based long-term prognostication of breast cancer. [PDF]

NPJ Precis Oncol
Liang X, Zhang T, Braga M, Han L, Donswijk M, Huang J, Song J, Lu C, Wang X, Gao Y, Xiong C, Sun Y, Xu J, Teuwen J, Vogel W, Tan T, Mann R.   +16 more
europepmc   +1 more source

Host‐Specific Interactions Between Staphylococcus aureus and Pseudomonas aeruginosa Impair Epithelial Repair in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is frequently associated with polymicrobial biofilms involving Staphylococcus aureus and Pseudomonas aeruginosa. Interactions between these organisms are thought to influence disease severity, but the epithelial effects of exoproteins derived from patient‐matched cocultures remain poorly defined ...
Xiaohan Sun, Mahnaz Ramezanpour, George Bouras, Emma Barry, Alkis J. Psaltis, Peter‐John Wormald, Sarah Vreugde   +6 more
wiley   +1 more source