The role of ducks in detecting Highly Pathogenic Avian Influenza in small-scale backyard poultry farms. [PDF]
PLoS Comput BiolWu SX, Davis CN, Arnold M, Tildesley MJ.
europepmc +1 more source
Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]
, 2019 Claes, Kathleen +9 more
core +2 more sources
Surveillance of porcine diarrhea-associated viruses in Anhui province, China (2022–2023) reveals rotavirus predominance and emergence of a highly pathogenic G9P[23] strain [PDF]
Rui Geng +8 more
openalex +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Accurately assembling nanopore sequencing data of highly pathogenic bacteria. [PDF]
BMC GenomicsThomas C +5 more
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Expanding Horizons: Host Range Evolution and Treatment Strategies for Highly Pathogenic Avian Influenza H5N1 and H7N9. [PDF]
VirusesGazik NH, Holodniy M, Bayat V.
europepmc +1 more source
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders [PDF]
, 2017 Andrews, Marisa V +2 more
core +2 more sources