Results 71 to 80 of about 4,387 (238)

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

open access: yesClinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson   +11 more
wiley   +1 more source

Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by drug‐resistant seizures and developmental slowing. Although cognitive and executive function deficits have been described, their early trajectory is not well understood.
Joseph Sullivan   +28 more
wiley   +1 more source

Caso ergativo y marca de concordancia: similitudes y variaciones en las lenguas hindi/urdu, pashto y balochi [PDF]

open access: yes, 2013
The aim of this article is to provide detailed descriptions of the ergative case marking in three South Asian Languages. The sample from which we will try to make some generalizations includes the Indic language Hindi/Urdu, the Eastern Iranian Pashto and
Mirdehghan, Mahinnaz
core  

L3 Regressive Transfer: A Study of Null Objects in the Basque and Spanish Grammars of Advanced L3 English Speakers

open access: yesInternational Journal of Applied Linguistics, EarlyView.
ABSTRACT Regressive transfer has been a subject that has not been extensively researched in the field of third language acquisition. This study aims to examine the extent to which a highly advanced knowledge of a third language (L3) affects the first language (L1) and the second language (L2) of early bilinguals in light of the Differential Stability ...
Maddi Alkain Arizmendi   +2 more
wiley   +1 more source

Hierarchical person marking in Rawang [PDF]

open access: yes, 2010
Rawang (Rvwàng) is a Tibeto-Burman language spoken in the far north of Myanmar (Burma), and is closely related to the Dulong language spoken in China.
LaPolla, Randy J.
core  

Narcolepsy and rapid eye movement sleep

open access: yesJournal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini   +4 more
wiley   +1 more source

Developing giant plasma membrane vesicles from Leishmania cells to investigate the role of membrane proteins in photodynamic inactivation

open access: yesPhotochemistry and Photobiology, EarlyView.
In this study, we developed giant plasma membrane vesicles (GPMVs) from Leishmania amazonensis promastigote membranes to investigate the role of protein‐embedded membranes in methylene blue (MB) photooxidation. Upon MB photoactivation in model lipid membranes (giant unilamellar vesicles, GUVs), a distinct photooxidation effect was observed, marked by ...
Maressa D. F. de Souza   +3 more
wiley   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

open access: yesPeriodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer   +4 more
wiley   +1 more source

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