نتایج جستجو برای: cdls

تعداد نتایج: 139  

2018
Laura Rachele Bettini Federica Graziola Grazia Fazio Paolo Grazioli Valeria Scagliotti Mariavittoria Pasquini Giovanni Cazzaniga Andrea Biondi Lidia Larizza Angelo Selicorni Carles Gaston-Massuet Valentina Massa

Cohesin complex components exert fundamental roles in animal cells, both canonical in cell cycle and non-canonical in gene expression regulation. Germline mutations in genes coding for cohesins result in developmental disorders named cohesinopaties, of which Cornelia de Lange syndrome (CdLS) is the best-known entity. However, a basic description of mammalian expression pattern of cohesins in a ...

Journal: :Psykhe (santiago) 2023

La violencia laboral y los liderazgos destructivos acaparan un alto interés en el mundo, sin embargo, Chile no existen procesos de validación para instrumentos más utilizados globalmente. evidencia muestra que la exposición a se asocia con distrés. El objetivo este estudio fue proveer validez del Cuestionario Conductas Negativas (NAQ-R) Escala Liderazgo Destructivo (CDLS), basada estructura int...

2014
Vito Leanza Gabriella Rubbino Gianluca Leanza Orkun Çetin Laird Jackson Jinglan Liu vito leanza

Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformation...

Journal: :The Journal of allergy and clinical immunology 2018
Andrea Björkman Likun Du Mirjam van der Burg Valerie Cormier-Daire Guntram Borck Juan Pié Britt-Marie Anderlid Lennart Hammarström Lena Ström Jean-Pierre de Villartay David Kipling Deborah Dunn Walters Qiang Pan-Hammarström

FIG 1. Reduced IGH diversities and increased use of pr Diversities (unique/total CDR3s; Fig 1,A) and the propor D50. Significant differences compared with control val dot represents 1 subject. Black or white squares indica or mild form of disease, respectively. C, Average frequ relation to D and J genes) in patients with CdLS. Schem at top. Proximal, middle, or distal V gene groups each and con...

2014
Akihiko Muto Shingo Ikeda Martha E. Lopez-Burks Yutaka Kikuchi Anne L. Calof Arthur D. Lander Thomas F. Schilling Gregory S. Barsh

Haploinsufficiency for Nipbl, a cohesin loading protein, causes Cornelia de Lange Syndrome (CdLS), the most common "cohesinopathy". It has been proposed that the effects of Nipbl-haploinsufficiency result from disruption of long-range communication between DNA elements. Here we use zebrafish and mouse models of CdLS to examine how transcriptional changes caused by Nipbl deficiency give rise to ...

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