Results 111 to 120 of about 25,962 (237)

A Method to Estimate Health Effects Based on Error‐Prone Simulated Environmental Exposure: An Application to a Multi‐Country Study on Birthweight and Fine Particulate Matter

open access: yesGeoHealth, Volume 10, Issue 5, May 2026.
Abstract Earth System Models provide spatiotemporally continuous environmental exposure data but remain underused in environmental epidemiology because of uncertainty from measurement errors. We developed a novel latent‐variable approach to correct for measurement error characterized by spatiotemporal error covariance, which was derived from ...
Jinting Guo   +4 more
wiley   +1 more source

Screening of internationally adopted children [PDF]

open access: yes, 1994
Currently, we have no local generally agreed guidelines for the examination of children adopted overseas. Out of 163 adopted children, who were brought into Malta between January 1991 and June 1992, 140 (86%) were seen at the children’s Outpatient ...
Dalmas, Miriam   +3 more
core  

Transition From Land to Sea: Comparative Genomics Illuminates the Adaptive Evolution of the Intertidal Spider

open access: yesMolecular Ecology Resources, Volume 26, Issue 4, May 2026.
ABSTRACT Spiders are renowned for their ecological versatility and silk‐based innovations in materials science, yet marine environments remain virtually uncolonized by this predominantly terrestrial lineage. A striking exception is the obligate intertidal spider genus Desis, whose members have evolved extraordinary physiological and behavioural ...
Fan Li   +11 more
wiley   +1 more source

Inferring Gene Regulatory Network Architecture Underlying Complex Traits: An Integrative Analysis of Mutant Lifespan and Gene Expression Profiles Identifies Master Regulators and Key Functional Modules for Yeast Aging

open access: yesAging Cell, Volume 25, Issue 5, May 2026.
We developed a LASSO‐based approach to uncover a three‐layered “fan‐in fan‐out” network architecture for complex traits like yeast aging, showing that peripheral genes influence lifespan indirectly through master regulators, which converge on core functional modules (e.g., stress response, autophagy).
Meng Ma   +12 more
wiley   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

open access: yes
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C.   +4 more
core  

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos   +16 more
wiley   +1 more source

The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]

open access: yes, 2001
The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
core   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

open access: yesClinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria

open access: yesMolecular Therapy: Nucleic Acids
Low in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez   +6 more
doaj   +1 more source

Fenilcetonúria e suas variantes: revisão bibliográfica [PDF]

open access: yes, 2008
A fenilcetonúria representa o erro do metabolismo dos aminoácidos mais comum na população caucasiana, atingindo 1/10.000 nascimentos. Esta doença, de transmissão autossómica recessiva, resulta da deficiência em fenilalanina hidroxilase ou de erros no ...
Cardoso, Inês Lopes, Machado, Joana
core  

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