Results 161 to 170 of about 167,642 (275)

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

open access: yesMovement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar   +10 more
wiley   +1 more source

Therapeutic targeting of TGF‐β in lung cancer

open access: yesThe FEBS Journal, Volume 292, Issue 7, Page 1520-1557, April 2025.
Here, we discuss how lung cancer treatment can be transformed by targeting TGF‐β for better outcomes. Inhibiting TGF‐β signaling halts tumor growth, boosts immune response, and enhances treatment efficacy. By tackling TGF‐β's role in epithelial–mesenchymal transition (EMT) and immune evasion, this approach opens new avenues for more effective lung ...
Sajjad Aftabi   +9 more
wiley   +1 more source

Genetic Loci Influencing Cue‐Reactivity in Heterogeneous Stock Rats

open access: yesGenes, Brain and Behavior, Volume 24, Issue 2, April 2025.
A genome‐wide association study characterizing individual differences in cue‐reactivity (sign‐tracking; A) identifies multiple genetic loci, particularly on chromosomes 1 and 18 (B). Multiple candidate genes in these regions were identified, including those with known psychiatric relevance (e.g., Tenm4; C) and novel candidates with heritable ...
Christopher P. King   +23 more
wiley   +1 more source

Daily Complementary Feeding With Eggs Improves Fibroblast Growth Factor 21 in Infants

open access: yesMaternal &Child Nutrition, Volume 21, Issue 2, April 2025.
Complementary feeding with eggs led to a decrease in growth hormone resistance, as evidenced by improvements in FGF21 levels. However, baseline levels of FGF21 and I‐FAB were linked to increased growth faltering. ABSTRACT This secondary analysis of the Eggcel‐growth study investigated the effect of daily egg intake for 6 months in infants aged 6–9 ...
Regina Nakiranda   +8 more
wiley   +1 more source

Polyploidy‐mediated variations in glutamate receptor proteins linked to Fusarium wilt resistance in upland cotton

open access: yesThe Plant Journal, Volume 122, Issue 1, April 2025.
SUMMARY Cotton production in the US faces a serious threat from Fusarium oxysporum f. sp. vasinfectum race 4 (FOV4), a soil‐borne fungus causing Fusarium wilt by infecting the roots and vascular system of susceptible cotton, leading to rapid wilting and death.
Stephen Parris   +18 more
wiley   +1 more source

Atypical myopathy associated with box elder in Europe

open access: yes
Equine Veterinary Education, Volume 37, Issue 5, Page 231-233, May 2025.
E. J. Knowles, R. J. Piercy
wiley   +1 more source

Metabolomic profiles in Jamaican children with and without autism spectrum disorder [PDF]

open access: yesarXiv
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, the underlying metabolic perturbations associated with ASD which can potentially connect genetic and environmental factors, remain poorly ...
arxiv  

Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients

open access: yesOman Medical Journal, 2012
Objectives: This is a report on the types and patterns of inborn errors of metabolism (IEMs) of amino acids, organic acids and fatty acids oxidation detected by Tandem Mass Spectrometry for a period of 10 years (1998-2008) at Sultan Qaboos University ...
Sulaiman Al Riyami   +3 more
doaj  

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

open access: yesBiologics: Targets & Therapy, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj  

Biotin Status of Epileptics [PDF]

open access: yes, 1985
Achuta Murthy P. N.   +33 more
core   +1 more source

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