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1.
J Am Acad Dermatol ; 89(6): 1238-1244, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37598328

RESUMEN

Patients with midline cutaneous anomalies of the craniospinal axis can be indicative of underlying embryonic defects, such as neural tube defects. Lack of familiarity with these midline aberrant skin findings may lead to misdiagnosis and delayed treatment. In this review, midline cutaneous anomalies of the craniospinal axis including aplasia cutis congenita, cranial and spinal dysraphism, and other developmental anomalies are explored in detail with emphasis on cutaneous clues to the diagnosis and appropriate workup.


Asunto(s)
Disrafia Espinal , Humanos , Disrafia Espinal/diagnóstico , Piel
8.
OMICS ; 16(6): 312-9, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22414063

RESUMEN

The COP9 Signalosome (CSN) is a highly conserved eight subunit protein complex associated with a wide range of essential biological functions in eukaryotic cells, and directly involved in processes including deneddylation, phosphorylation, and ubiquitination. Despite its significant role, very few studies have been undertaken to reveal the interactions between the CSN and its binding partners, and none in human T cells. Here we present a purification method for the CSN and binding proteins via the Streptavidin-Binding Peptide (SBP) fused to CSN Subunit 1 (CSN1). Using this method, coupled with liquid chromatography-mass spectrometry analysis, we identified all eight subunits of the CSN, as well as expected and putative novel binding partners such as a tumor suppressor under the control of Cullin4a-ligase complex; Neurofibromin 2 (Merlin). This work presents a method for fast, reliable, and specific affinity-based purification of a protein complex from a nonadherent cell line. The purification of the CSN and binding partners from T cells can elucidate the roles of CSN in a cell type where it has never been studied before. This proteomic-based approach can broaden our understanding of the functions of the CSN in contexts such as viral-host interactions or immune activation in their natural milieu.


Asunto(s)
Complejos Multiproteicos/aislamiento & purificación , Péptido Hidrolasas/aislamiento & purificación , Linfocitos T/metabolismo , Secuencia de Aminoácidos , Secuencia de Bases , Complejo del Señalosoma COP9 , Cromatografía Liquida , Cartilla de ADN , Citometría de Flujo , Humanos , Espectrometría de Masas , Datos de Secuencia Molecular , Complejos Multiproteicos/química , Complejos Multiproteicos/metabolismo , Neurofibromina 2/metabolismo , Péptido Hidrolasas/química , Péptido Hidrolasas/metabolismo , Unión Proteica
11.
J Cogn Neurosci ; 21(12): 2398-406, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19016603

RESUMEN

Behavioral studies show that infants are capable of discriminating the number of objects or events in their environment, while also suggesting that number discrimination in infancy may be ratio-dependent. However, due to limitations of the dependent measures used with infant behavioral studies, the evidence for ratio dependence falls short of the vast psychophysical datasets that have established ratio dependence, and thus, adherence to Weber's Law in adults and nonhuman animals. We addressed this issue in two experiments that presented 7-month-old infants with familiar and novel numerosities while electroencephalogram measures of their brain activity were recorded. These data provide convergent evidence that the brains of 7-month-old infants detected numerical novelty. Alpha-band and theta-band oscillations both differed for novel and familiar numerical values. Most importantly, spectral power in the alpha band over midline and right posterior scalp sites was modulated by the ratio between the familiar and novel numerosities. Our findings provide neural evidence that numerical discrimination in infancy is ratio dependent and follows Weber's Law, thus indicating continuity of these cognitive processes over development. Results are also consistent with the idea that networks in the frontal and parietal cortices support ratio-dependent number discrimination in the first year of human life, consistent with what has been reported in neuroimaging studies in adults and older children.


Asunto(s)
Ritmo alfa , Encéfalo/fisiología , Discriminación en Psicología/fisiología , Potenciales Evocados Visuales/fisiología , Matemática , Mapeo Encefálico , Femenino , Humanos , Lactante , Masculino , Reconocimiento Visual de Modelos/fisiología , Estimulación Luminosa/métodos , Psicofísica , Reconocimiento en Psicología/fisiología , Análisis Espectral
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