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1.
Nat Genet ; 34(4): 421-8, 2003 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-12833159

RESUMEN

The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in the organ of Corti of the inner ear indicates that the whirler gene encodes a protein involved in the elongation and maintenance of stereocilia in both inner hair cells (IHCs) and outer hair cells (OHCs). BAC-mediated transgene correction of the mouse phenotype and mutation analysis identified the causative gene as encoding a novel PDZ protein called whirlin. The gene encoding whirlin also underlies the human autosomal recessive deafness locus DFNB31. In the mouse cochlea, whirlin is expressed in the sensory IHC and OHC stereocilia. Our findings suggest that this novel PDZ domain-containing molecule acts as an organizer of submembranous molecular complexes that control the coordinated actin polymerization and membrane growth of stereocilia.


Asunto(s)
Sordera/genética , Expresión Génica , Proteínas de la Membrana/genética , Proteínas/genética , Secuencia de Aminoácidos , Animales , Mapeo Cromosómico , Cilios/fisiología , Cilios/ultraestructura , Análisis Mutacional de ADN , ADN Complementario/genética , Genes Recesivos , Células Ciliadas Auditivas Internas/ultraestructura , Células Ciliadas Auditivas Externas/ultraestructura , Humanos , Proteínas de la Membrana/fisiología , Ratones , Ratones Mutantes , Ratones Transgénicos , Datos de Secuencia Molecular , Fenotipo , Proteínas/fisiología , ARN Mensajero/genética , ARN Mensajero/metabolismo , Homología de Secuencia de Aminoácido , Especificidad de la Especie
2.
Prehosp Disaster Med ; 35(2): 128-132, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31973785

RESUMEN

INTRODUCTION: In Mexico, physicians have become part of public service prehospital care. Head injured patients are a sensitive group that can benefit from early advanced measures to protect the airway, with the objective to reduce hypoxia and maintain normocapnia. PROBLEM: The occurrence of endotracheal intubation to patients with severe head injuries by prehospital physicians working at Mexico City's Service of Emergency Medical Care (SAMU) is unknown. METHODS: A retrospective analysis of five-year data (2012-2016) from Mexico City's Medical Emergencies Regulation Center was performed. Only SAMU ambulance services were analyzed. Adult patients with a prehospital diagnosis of head injury based on mechanism of injury and physical examination with a Glasgow Coma Scale (GCS)

Asunto(s)
Traumatismos Craneocerebrales/epidemiología , Servicios Médicos de Urgencia/estadística & datos numéricos , Intubación Intratraqueal/estadística & datos numéricos , Pautas de la Práctica en Medicina/estadística & datos numéricos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Traumatismos Craneocerebrales/patología , Traumatismos Craneocerebrales/terapia , Femenino , Escala de Coma de Glasgow , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
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