Results 291 to 300 of about 226,163 (382)

α‐Helix‐Driven Regulation of Aqueous Circularly Polarized Luminescence in Homopolypeptide Self‐Assembly

open access: yesAggregate, EarlyView.
We explore the hierarchical chirality transfer in self‐assembled fluorescent homopolypeptide systems for achieving aqueous circularly polarized luminescence (CPL), and reveal the α‐helix‐dominated CPL regulation mechanism during the self‐assembly process .
Jinhui Jiang   +10 more
wiley   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala   +8 more
wiley   +1 more source

Family-wide analysis of human macrodomains reveals novel activities and identifies PARG as most efficient ADPr-RNA hydrolase. [PDF]

open access: yesCommun Biol
Weixler L   +9 more
europepmc   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad   +8 more
wiley   +1 more source

Theanine modulation of monoamine metabolism visualized by derivatized imaging mass spectrometry. [PDF]

open access: yesSci Rep
Taira S   +6 more
europepmc   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino   +8 more
wiley   +1 more source

Home - About - Disclaimer - Privacy