Results 181 to 190 of about 1,121,791 (246)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals 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

open access: yesAnnals 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

Clinical Outcomes of Patients Within the Rheumatoid Arthritis Care Pathway Cohort at a Tertiary Care Integrated Delivery Network: A Comparison to Usual Care

open access: yesArthritis Care &Research, EarlyView.
Objective We aimed to compare clinical outcomes between patients in the Allegheny Health Network rheumatoid arthritis (RA) care pathway and patients receiving usual care. Methods The care pathway initiative implements guideline‐based best practice alongside multidisciplinary team‐based care.
Tarun Sharma   +7 more
wiley   +1 more source

Serum Soluble Mediator Signatures of Lupus Nephritis: Histologic Features and Response to Treatment

open access: yesArthritis Care &Research, EarlyView.
Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histologic features and treatment response.
Andrea Fava   +48 more
wiley   +1 more source

Evolving fault diagnosis scheme for unbalanced distribution network using fast normalized cross-correlation technique. [PDF]

open access: yesPLoS One
Krishna Ponukumati B   +6 more
europepmc   +1 more source

Pharmacokinetics, Pharmacodynamics, and Safety of Subcutaneous Belimumab in Pediatric Patients With Systemic Lupus Erythematosus: A Multicenter, Open‐Label Trial

open access: yesArthritis Care &Research, EarlyView.
Objective This study aimed to characterize the pharmacokinetics, pharmacodynamics, safety, and exploratory efficacy of subcutaneous belimumab in pediatric patients with active systemic lupus erythematosus (SLE) receiving standard therapy. Methods This single‐arm, multicenter, open‐label trial (GSK study 200908; ClinicalTrials.gov identifier ...
Hermine I. Brunner   +14 more
wiley   +1 more source

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