Results 121 to 130 of about 3,288,372 (337)

Artificial Intelligence‐Driven Proteomics Identifies Plasma Protein Signatures for Diagnosis and Stratification of Behçet's Disease

open access: yesAdvanced Science, EarlyView.
Molecular and functional landscape of BD progression and severity based on in‐depth proteomics. Tree boosting machine learning models with favorable performance in BD diagnosis and stratification. Efficient biomarker panels for BD diagnosis and stratification. .
Linlin Cheng   +6 more
wiley   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

open access: yesLiver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala   +6 more
wiley   +1 more source

SPLICEIT Fluorescent Sensor for Integrating Dopamine Release with Cellular Resolution

open access: yesAngewandte Chemie, EarlyView.
“Single‐chain protein‐based ligand indication through a chimerically‐engineered integrator tool” (SPLICEIT) is a G‐protein coupled receptor‐based sensor design that leaves a permanent fluorescent mark. We show dopamine detection in primary cultured neurons with a fourfold signal increase normalized to an mCherry (mCh) marker.
Steven M. Havens   +7 more
wiley   +2 more sources

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel   +2 more
wiley   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders   +11 more
wiley   +1 more source

Transient Monoclonal Gammopathy Associated With Cytomegalovirus Infection [PDF]

open access: bronze, 1974
H. Vodopick   +3 more
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

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