نتایج جستجو برای: gefs

تعداد نتایج: 744  

2017
Hadir Marei Angeliki Malliri

GEFs play a critical role in regulating Rac1 signaling. They serve as signaling nodes converting upstream signals into downstream Rac1-driven cellular responses. Through associating with membrane-bound Rac1, GEFs facilitate the exchange of GDP for GTP, thereby activating Rac1. As a result, Rac1 undergoes conformational changes that mediate its interaction with downstream effectors, linking Rac1...

Journal: :Nature Reviews Cancer 2005

2015
Emily Petruccelli Patrick Lansdon Toshihiro Kitamoto Subhabrata Sanyal

Despite an established link between epilepsy and sleep behavior, it remains unclear how specific epileptogenic mutations affect sleep and subsequently influence seizure susceptibility. Recently, Sun et al. (2012) created a fly knock-in model of human generalized epilepsy with febrile seizures plus (GEFS+), a wide-spectrum disorder characterized by fever-associated seizing in childhood and lifel...

Journal: :American journal of physiology. Cell physiology 2012
Chrystelle Cario-Toumaniantz David Ferland-McCollough Gilliane Chadeuf Gilles Toumaniantz Marianne Rodriguez Jean-Pierre Galizzi Brian Lockhart Antoine Bril Elizabeth Scalbert Gervaise Loirand Pierre Pacaud

Sustained overactivation of RhoA is a common component for the pathogenesis of several cardiovascular disorders, including hypertension. Although activity of Rho proteins depends on Rho exchange factors (Rho-GEFs), the identity of Rho-GEFs expressed in vascular smooth muscle cells (VSMC) and participating in the control of Rho protein activity and Rho-dependent functions remains unknown. To add...

2010
Teraporn Vutyavanich Waraporn Piromlertamorn Jason Ellis

Empty follicle syndrome (EFS) is a condition in which no oocytes are obtained after an apparently successful ovarian stimulation. Genuine EFS (GEFS) is differentiated from false EFS by an optimal level of human chorionic gonadotropin on the day of oocyte retrieval. Some believe that GEFS does not exist and that it is only a reflection of the margin of error attendant upon the procedure of oocyt...

2012
Lei Sun Jeff Gilligan Cynthia Staber Ryan J. Schutte Vivian Nguyen Diane K. O’Dowd Robert Reenan

Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS ). Inheritance of GEFS is dominant, but the underlying cellular mechanisms remain poorly understood. Here we report that knock-in of a GEFS SCN1A mutation (K1270T) into the Drosophila sodium channel gene, para, causes a semidominant temper...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2012
Lei Sun Jeff Gilligan Cynthia Staber Ryan J Schutte Vivian Nguyen Diane K O'Dowd Robert Reenan

Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS+). Inheritance of GEFS+ is dominant, but the underlying cellular mechanisms remain poorly understood. Here we report that knock-in of a GEFS+ SCN1A mutation (K1270T) into the Drosophila sodium channel gene, para, causes a semidominant temp...

Journal: :Cell Adhesion & Migration 2014

Journal: :Current opinion in cell biology 2010
Francis Barr David G Lambright

Rabs are GTP-binding proteins with conserved functions in membrane trafficking. They are regulated by a diverse group of structurally unrelated GDP-GTP exchange factors (GEFs), and a family of GTP-hydrolysis activating proteins (GAPs) containing the conserved TBC domain. Recent structural and cell biological studies shed new light on the mechanisms of Rab GEF and GAP action, and the cellular tr...

Journal: :Archives of neurology 2008
Stéphanie Baulac Isabelle Gourfinkel-An Philippe Couarch Christel Depienne Anna Kaminska Olivier Dulac Michel Baulac Eric LeGuern Rima Nabbout

BACKGROUND Generalized epilepsy with febrile seizures plus (GEFS(+)) is a familial autosomal dominant entity characterized by the association of febrile and afebrile seizures. Mutations in 3 genes--the sodium channel alpha1 subunit gene (SCN1A), the sodium channel beta1 subunit gene (SCN1B), and the gamma2 GABA receptor subunit gene (GABRG2)--and linkage to 2 other loci on 2p24 and 21q22 have b...

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