Results 31 to 40 of about 292,562 (157)

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

open access: yesAdvanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu   +11 more
wiley   +1 more source

SAT1‐Induced Spermidine Depletion Potentiates Food Allergy

open access: yesAdvanced Science, EarlyView.
Spermidine depletion, driven by upregulated spermidine/spermine N1‐acetyltransferase (SAT1), potentiates food allergy by promoting mast cell degranulation through autophagy suppression. SAT1 physically interacts with the long noncoding RNA Cdk19os to inhibit Atg5 and Atg7, disrupting autophagic flux.
Manman Liu   +8 more
wiley   +1 more source

Developmental Environmental Chronotoxicity by Polystyrene Nanoplastics Exacerbates High‐Fat Diet‐Induced Pediatric MAFLD Through Circadian Disruption and Mitochondrial Dysfunction

open access: yesAdvanced Science, EarlyView.
Polystyrene nanoplastics exacerbate high‐fat diet‐induced metabolic dysfunction in an age‐dependent manner. Juvenile mice exhibit greater susceptibility, characterized by circadian disruption, impaired mitochondrial function, reduced energy metabolism, and enhanced hepatic lipid accumulation.
Peihao Xu   +10 more
wiley   +1 more source

Other title: Statistics on the Juvenile Offender Population

open access: yes, 2006
application/pdfA set of 11 documents provided by the Juvenile Services Division of the Kansas Department of Corrections and its predecessor, the Kansas Juvenile Justice Authority, with Statistics on the Juvenile Offender Population.FY 2009-2012 Judicial ...
Kansas. Department of Corrections. Division of Juvenile Services.
core  

A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]

open access: yes, 2010
Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Juvenile Dermatomyositis Research Group   +15 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh   +5 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger   +28 more
wiley   +1 more source

Septic emboli secondary to Infective Endocarditis [PDF]

open access: yes, 2016
A 31 year old lady was brought to casualty by a friend, unconscious and incontinent of urine and faeces. She was responsive to verbal stimuli with a Glasgow Come Scale (GCS) of 10 and noted to have a fever of 39.6oC.
Pavia, Jessica   +2 more
core  

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

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