Results 151 to 160 of about 172,523 (297)
Aging, Fragility and Reversibility Window in Bulk Alloy Glasses [PDF]
arXiv, 2003 Non-reversing relaxation enthalpies (DHnr) at glass transitions Tg(x) in the PxGexSe1-2x ternary display a wide, sharp and deep global minimum (~0) in the 0.09 < x < 0.145 range, within which Tg becomes thermally reversing. In the reversibility window these glasses are found not to age, in contrast to aging observed for fragile glass compositions ...
arxiv
Lipedema: Progress, Challenges, and the Road Ahead
Obesity Reviews, EarlyView.ABSTRACT Introduction Lipedema is a chronic and progressive disease that predominantly affects women, characterized by a disproportionate increase in subcutaneous adipose tissue (AT), particularly in the lower limbs. It is associated with significant physical disability, chronic pain, thromboembolism, and psychosocial distress.
Vincenza Cifarelli
wiley +1 more source
Psychiatry and Clinical Neurosciences, EarlyView.Next‐generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their ...
Reza K. Arta +4 more
wiley +1 more source
Random Embeddings and Linear Regression can Predict Protein Function [PDF]
arXiv, 2021 Large self-supervised models pretrained on millions of protein sequences have recently gained popularity in generating embeddings of protein sequences for protein function prediction. However, the absence of random baselines makes it difficult to conclude whether pretraining has learned useful information for protein function prediction.
arxiv
Cerebral Protein Synthesis in a Knockin Mouse Model of the Fragile X Premutation
ASN Neuro, 2014 The (CGG)n-repeat in the 5′-untranslated region of the fragile X mental retardation gene ( FMR1 ) gene is polymorphic and may become unstable on transmission to the next generation.
Mei Qin +8 more
doaj +1 more source
Changes in Synaptic Protein Content and Signaling in a Mouse Model of Fragile X Syndrome [PDF]
, 2016 Fragile X Syndrome--the most common inherited form of intellectual disability--is characterized by low IQ, impaired social interaction, hyperactivity and impulsivity, and abnormal physical traits including an elongated face and protruding ears.
Birch, Kelly, Vanderklish, Peter W, PhD
core +1 more source
The Drosophila fragile X-related gene regulates axoneme differentiation during spermatogenesis [PDF]
, 2004 Macroorchidism (i.e., enlarged testicles) and mental retardation are the two hallmark symptoms of Fragile X syndrome (FraX). The disease is caused by loss of fragile X mental retardation protein (FMRP), an RNA-binding translational regulator.
Andrews, Hillary K +6 more
core +1 more source
Psychiatry and Clinical Neurosciences, EarlyView.Aim A GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry‐based dementia‐enriched cohort and to identify their clinical ...
Tesshin Miyamoto +15 more
wiley +1 more source
Protein Interaction Networks are Fragile against Random Attacks and Robust against Malicious Attacks [PDF]
arXiv, 2010 The capacity to resist attacks from the environment is crucial to the survival of all organisms. We quantitatively analyze the susceptibility of protein interaction networks of numerous organisms to random and malicious attacks. We find for all organisms studied that random rewiring improves protein network robustness, so that actual networks are more ...
arxiv
Biology Open, 2012 Summary FMRP is an evolutionarily conserved protein that is highly expressed in neurons and its deficiency causes fragile X mental retardation syndrome.
Cristina Gareau +4 more
doaj +1 more source