Results 101 to 110 of about 116,020 (268)

Limitations of Foundation Models in Energy Materials Simulations: A Case Study in Polyanion Sodium Cathode Materials

open access: yesAdvanced Intelligent Discovery, EarlyView.
Several simulation techniques are used to explore static and dynamic behavior in polyanion sodium cathode materials. The study reveals that universal machine learning interatomic potentials (MLIPs) struggle with system‐specific chemistry, emphasizing the need for tailored datasets.
Martin Hoffmann Petersen   +5 more
wiley   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

The Deep Roots of Sustainability

open access: yesProblemy Ekorozwoju, 2011
The Western world, since the Scientific/Industrial Revolution has valued highly the capacity of our logical and analytical minds as well as the economic success which has been credited to this thinking.
Eva M. Kras
doaj  

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Distinct molecular pathways supporting Sjögren's Disease clusters and disease progression.

open access: yesArthritis &Rheumatology, Accepted Article.
Objective Sjögren's disease (SjD) is a heterogeneous autoimmune disease. We aimed to investigate blood transcriptomic signatures and disease progression among three recently defined SjD patient clusters: (1) B‐cell active with low symptoms (BALS), (2) high systemic activity (HSA), and (3) low systemic activity with high symptoms (LSAHS).
Sacha E Silva‐Saffar   +6 more
wiley   +1 more source

Impact of extended insurance coverage on survival outcomes among patients with metastatic colorectal cancer in Taiwan

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims Predetermined treatment duration limits (PTDLs) are often used by Taiwan's National Health Insurance Administration to contain healthcare costs, but they may compromise patient outcomes. Therefore, we studied Taiwan's 2017 extension of the bevacizumab PTDL from 24 to 36 weeks in metastatic colorectal cancer (mCRC) to evaluate whether prolonged ...
Wei‐Ming Huang   +6 more
wiley   +1 more source

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