Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Más filtros

Banco de datos
Tipo del documento
Asunto de la revista
País de afiliación
Intervalo de año de publicación
1.
Clin Genet ; 95(1): 177-181, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-30298622

RESUMEN

Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the mainland France. Twelve children having isolated bilateral prelingual profound deafness along with motor delay attributed to vestibular areflexia were enrolled. Their mean walking age was 19 months. Electroretinography and temporal bone CT-scans were normal in all cases. A novel homozygous frameshift lipoma HMGIC fusion partner-like 5 (LHFPL5) variant c.185delT p.(Phe62Serfs*23) was identified using whole-exome sequencing. It was found in seven families. Four patients from two different families from both Reunion Island and mainland France, were compound heterozygous: c.185delT p.(Phe62Serfs*23) and c.472C > T p.(Arg158Trp). The phenotype observed in our patients completely mimics the hurry-scurry (hscy) murine Tmhs knock-out model. The recurrent occurrence of same LHFPL5 variant in Reunion Island is attributed to common ancestor couple born in 1693.


Asunto(s)
Vestibulopatía Bilateral/genética , Sordera/genética , Proteínas de la Membrana/genética , Trastornos Motores/genética , Animales , Vestibulopatía Bilateral/diagnóstico por imagen , Vestibulopatía Bilateral/fisiopatología , Sordera/diagnóstico por imagen , Sordera/fisiopatología , Electrorretinografía , Femenino , Mutación del Sistema de Lectura/genética , Homocigoto , Humanos , Lactante , Masculino , Ratones , Trastornos Motores/diagnóstico por imagen , Trastornos Motores/fisiopatología , Linaje , Tomografía Computarizada por Rayos X , Secuenciación del Exoma
2.
J Mater Sci Mater Med ; 26(11): 261, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26449451

RESUMEN

The research developed on functionalized model or prosthetic surfaces with bioactive polymers has raised the possibility to modulate and/or control the biological in vitro and in vivo responses to synthetic biomaterials. The mechanisms underlying the bioactivity exhibited by sulfonated groups on surfaces involves both selective adsorption and conformational changes of adsorbed proteins. Indeed, surfaces functionalized by grafting poly(sodium styrene sulfonate) [poly(NaSS)] modulate the cellular and bacterial response by inducing specific interactions with fibronectin (Fn). Once implanted, a biomaterial surface is exposed to a milieu of many proteins that compete for the surface which dictates the subsequent biological response. Once understood, this can be controlled by dictating exposure of active binding sites. In this in vitro study, we report the influence of binary mixtures of proteins [albumin (BSA), Fn and collagen type I (Col I)] adsorbed on poly(NaSS) grafted Ti6Al4V on the adhesion and differentiation of MC3T3-E1 osteoblast-like cells and the adhesion and proliferation of Staphylococcus aureus (S. aureus). Outcomes showed that poly(NaSS) stimulated cell spreading, attachment strength, differentiation and mineralization, whatever the nature of protein provided at the interface compared with ungrafted Ti6Al4V (control). While in competition, Fn and Col I were capable of prevailing over BSA. Fn played an important role in the early interactions of the cells with the surface, while Col I was responsible for increased alkaline phosphatase, calcium and phosphate productions associated with differentiation. Poly(NaSS) grafted surfaces decreased the adhesion of S. aureus and the presence of Fn on these chemically altered surfaces increased bacterial resistance ≈70% compared to the ungrafted Ti6Al4V. Overall, our study showed that poly(NaSS) grafted Ti6Al4V selectively adsorbed proteins (particularly Fn) promoting the adhesion and differentiation of osteoblast-like cells while reducing bacterial adhesion to create a bioactive surface with potential for orthopaedic applications.


Asunto(s)
Proteínas Bacterianas/química , Polímeros/química , Staphylococcus aureus/fisiología , Titanio/química , Células 3T3 , Animales , Adhesión Bacteriana , Diferenciación Celular , Proliferación Celular , Ratones , Unión Proteica , Espectroscopía Infrarroja por Transformada de Fourier , Propiedades de Superficie
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA