Results 121 to 130 of about 23,445 (337)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

m6A Methylation‐Induced Autophagy Impairment by TFEB Regulation in SOD1‐G93A ALS Cell Model

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We investigate the role of m6A RNA methylation in regulating transcription factor EB (TFEB) and its contribution to mitochondrial autophagy (mitophagy) dysfunction in amyotrophic lateral sclerosis (ALS). ALS cell models were used to analyse mitophagy markers and TFEB expression under METTL3 and TFEB modulation, using RT‐qPCR, Western blot ...
Di An   +7 more
wiley   +1 more source

Necesidad de la Terapia Miofuncional en el tratamiento de la Deglución Atípica [PDF]

open access: yes, 2016
la importancia de la deglución atípica se ha visto incrementada en los últimos años debido a sus posibles consecuencias negativas, y a la que se le presta mayor atención desde el ámbito logopédico y ortodóncico.
Calvo Alonso, Eva
core  

Deglutition assessment instruments used in critical patients submitted to orotracheal extubation: a scoping review [PDF]

open access: gold, 2022
Rayane Délcia da Silva   +8 more
openalex   +1 more source

Understanding Youth Assaults of Police Officers in Australia: A Power Threat Meaning Framework Analysis

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This study explores youth violence towards police officers in Australia through the Power Threat Meaning Framework (PTMF) to better understand the underlying factors contributing to such violence; focusing on power dynamics, childhood adversity, and trauma.
Dimitra Lattas   +4 more
wiley   +1 more source

Elezanumab Accelerates Post‐Injury Regeneration of Olfactory Sensory Neurons in a Methimazole‐Induced Mouse Model

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
Key Points Elezanumab accelerates olfactory sensory neuron regeneration in a methimazole‐induced mouse model. Repulsive guidance molecule A blockade increases GAP43+ and OMP+ cells dorsally while sparing basal cells. This approach offers a novel therapy for sensorineural olfactory disorder.
Eri Mori   +6 more
wiley   +1 more source

Revisiting Plummer Vinson Syndrome : a report of three cases and review [PDF]

open access: yes, 2014
Plummer-Vinson or Paterson-Brown-Kelly syndrome (PVS) is characterised by a triad of cervical dysphagia, upper oesophageal web and iron deficiency anaemia.
Begum, Rezwana   +3 more
core  

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