نتایج جستجو برای: مدل arx

تعداد نتایج: 120915  

2014
Lan Wang Yu Cheng Jinglu Hu Jinling Liang

This paper proposes a multiinput and multioutput MIMO quasi-autoregressive eXogenous ARX model and amultivariable-decoupling proportional integral differential PID controller for MIMO nonlinear systems based on the proposed model. The proposed MIMO quasi-ARX model improves the performance of ordinary quasi-ARX model. The proposed controller consists of a traditional PID controller with a decoup...

Journal: :Human molecular genetics 2009
Kunio Kitamura Yukiko Itou Masako Yanazawa Maki Ohsawa Rika Suzuki-Migishima Yuko Umeki Hirohiko Hohjoh Yuchio Yanagawa Toshikazu Shinba Masayuki Itoh Kenji Nakamura Yu-ichi Goto

ARX (the aristaless-related homeobox gene) is a transcription factor that participates in the development of GABAergic and cholinergic neurons in the forebrain. Many ARX mutations have been identified in X-linked lissencephaly and mental retardation with epilepsy, and thus ARX is considered to be a causal gene for the two syndromes although the neurobiological functions of each mutation remain ...

2012
Anthony Beucher Elisabet Gjernes Caitlin Collin Monica Courtney Aline Meunier Patrick Collombat Gérard Gradwohl

Intestinal hormones are key regulators of digestion and energy homeostasis secreted by rare enteroendocrine cells. These cells produce over ten different hormones including GLP-1 and GIP peptides known to promote insulin secretion. To date, the molecular mechanisms controlling the specification of the various enteroendocrine subtypes from multipotent Neurog3(+) endocrine progenitor cells, as we...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2008
Gaëlle Friocourt Shigeaki Kanatani Hidenori Tabata Masato Yozu Takao Takahashi Mary Antypa Odile Raguénès Jamel Chelly Claude Férec Kazunori Nakajima John G Parnavelas

The aristaless-related homeobox (ARX) gene has been implicated in a wide spectrum of disorders ranging from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild forms of X-linked mental retardation without apparent brain abnormalities. To better understand its role in corticogenesis, we used in utero electroporation to knock down or overexpress ARX. We show here tha...

Journal: :Epilepsy currents 2014
Michael Wong

Commentary Infantile spasms (IS) is a catastrophic epilepsy syndrome occurring during the specific developmental period of infancy and early childhood. In addition to the stereotypic motor spasms, patients with IS typically develop long-term intellectual disability and other seizure types that are often resistant to treatment. A variety of acquired brain injuries at this critical age can result...

2017
Il-Taeg Cho Youngshin Lim Jeffrey A Golden Ginam Cho

Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders. How mutations in this single transcription factor can result in such a broad range of phenotypes remains poorly understood. We hypothesized that ARX functions through distinct interactions with ...

Journal: :Human molecular genetics 2012
MacLean Pancoast Nasrallah Ginam Cho Jacqueline C Simonet Mary E Putt Kunio Kitamura Jeffrey A Golden

Polyalanine (poly-A) tracts exist in 494 annotated proteins; to date, expansions in these tracts have been associated with nine human diseases. The pathogenetic mechanism by which a poly-A tract results in these various human disorders remains uncertain. To understand the role of this mutation type, we investigated the change in functional properties of the transcription factor Arx when it has ...

2013
Crystal L. Wilcox Natalie A. Terry Erik R. Walp Randall A. Lee Catherine Lee May

The specification and differentiation of pancreatic endocrine cell populations (α-, β-, δ, PP- and ε-cells) is orchestrated by a combination of transcriptional regulators. In the pancreas, Aristaless-related homeobox gene (Arx) is expressed first in the endocrine progenitors and then restricted to glucagon-producing α-cells. While the functional requirement of Arx in early α-cell specification ...

Journal: :Brain : a journal of neurology 2009
Eric Marsh Carl Fulp Ernest Gomez Ilya Nasrallah Jeremy Minarcik Jyotsna Sudi Susan L Christian Grazia Mancini Patricia Labosky William Dobyns Amy Brooks-Kayal Jeffrey A Golden

Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx-deficient mice revealed several morphological anomalies, resembling those observed in patients and an interneuron migration defect but perinatal lethality precluded analyses of later phenotypes. Interestingly, many of ...

2015
Isabel Marques Maria João Sá Gabriela Soares Maria do Céu Mota Carla Pinheiro Lisa Aguiar Marta Amado Christina Soares Angelina Calado Patrícia Dias Ana Berta Sousa Ana Maria Fortuna Rosário Santos Katherine B Howell Monique M Ryan Richard J Leventer Rani Sachdev Rachael Catford Kathryn Friend Tessa R Mattiske Cheryl Shoubridge Paula Jorge

The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches in the Australian and Portuguese setting, using an integrated clinical and molecular strategy. We report variants in the ARX gene detected in ...

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