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Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

25.06.2015 | Elizabeth J. Bhoj, Dong Li, Margaret H. Harr, Lifeng Tian, Tiancheng Wang, Yan Zhao, Haijun Qiu, Cecilia Kim, Jodi D ..., American Journal of Medical Genetics Part A, 2015

Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi hypertelorism‐like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen ...


Mouse pups lacking collapsin response mediator protein 4 (CRMP4) manifest impaired olfactory function and hyperactivity in the olfactory bulb

25.06.2015 | Atsuhiro Tsutiya, Masugi Nishihara, Yoshio Goshima, Ritsuko Ohtani‐Kaneko, European Journal of Neuroscience, 2015

Abstract Members of the collapsin response mediator protein (CRMP) family are reported to be involved in the pathogenesis of various neuronal disorders including schizophrenia and autism. One of them, CRMP4, is reported to participate in aspects of neuronal development such as axonal guidance ...


The Pro‐inflammatory Cytokine Interleukin‐1β is a Key Regulatory Factor for the Postictal Suppression in Mice

20.06.2015 | An‐Feng Tao, Zheng‐Hao Xu, Bin Chen, Yi Wang, Xiao‐Hua Wu, Jing Zhang, Yang‐Shun Tang, Ceng‐Lin Xu, Hua‐Wei Zhao, We ..., CNS Neuroscience & Therapeutics, 2015

Summary Aims The postictal suppression (PS) is a common and important period following an epileptic seizure but has not been well studied. This study was designed to determine whether interleukin‐1β (IL‐1β) is involved in the PS. Methods The effects of IL‐1β on the PS were tested in ...


The impact of inflammatory cells in malignant ascites on small intestinal ICCs' morphology and function

18.06.2015 | Jing Li, Dan Kong, Yan He, Xiuli Wang, Lei Gao, Jiade Li, Meisi Yan, Duanyang Liu, Yufu Wang, Lei Zhang, Xiaoming Jin, Journal of Cellular and Molecular Medicine, 2015

Abstract Malignant ascites is one of the common complication at the late stage of abdominal cancers, which may deteriorate the environment of abdominal cavity and lead to potential damage of functional cells. Interstitial cells of Cajal (ICCs) are mesoderm‐derived mesenchymal cells that ...


Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange‐Nielsen deafness syndrome

17.06.2015 | Qing Chang, Jianjun Wang, Qi Li, Yeunjung Kim, Binfei Zhou, Yunfeng Wang, Huawei Li, Xi Lin, EMBO Molecular Medicine, 2015

Abstract Mutations in the potassium channel subunit KCNQ1 cause the human severe congenital deafness Jervell and Lange‐Nielsen (JLN) syndrome. We applied a gene therapy approach in a mouse model of JLN syndrome (Kcnq1−/− mice) to prevent the development of deafness in the adult stage. A ...


Process Improvement for Interinstitutional Research Contracting

17.06.2015 | Michael Varner, Jennifer Logan, Todd Bjorklund, Jesse Whitfield, Peggy Reed, Laurie Lesher, Amy Sikalis, Brent Brown ..., Clinical and Translational Science, 2015

Abstract Introduction Sponsored research increasingly requires multiinstitutional collaboration. However, research contracting procedures have become more complicated and time consuming. The perinatal research units of two colocated healthcare systems sought to improve their research ...


A sacrificial process for fabrication of biodegradable polymer membranes with submicron thickness

16.06.2015 | Luke A. Beardslee, Judith Stolwijk, Dimitrius A. Khaladj, Mohamed Trebak, Justin Halman, Karen Y. Torrejon, Nuttawee ..., Journal of Biomedical Materials Research Part B: Applied Biomaterials, 2015

Abstract A new sacrificial molding process using a single mask has been developed to fabricate ultrathin 2‐dimensional membranes from several biocompatible polymeric materials. The fabrication process is similar to a sacrificial microelectromechanical systems (MEMS) process flow, where a mold ...


Compound MQA, a Caffeoylquinic Acid Derivative, Protects Against NMDA‐Induced Neurotoxicity and Potential Mechanisms In Vitro

16.06.2015 | Xing Tian, Li An, Ling‐Yue Gao, Jun‐Peng Bai, Jian Wang, Wei‐Hong Meng, Tian‐Shu Ren, Qing‐Chun Zhao, CNS Neuroscience & Therapeutics, 2015

Summary Aims Compound MQA (1,5‐O‐dicaffeoyl‐3‐O‐[4‐malic acid methyl ester]‐quinic acid) is a natural derivative of caffeoylquinic acid isolated from Arctium lappa L. roots. However, we know little about the effects of MQA on the central nervous system. This study aims to investigate the ...


Contrast invariance of orientation tuning in the lateral geniculate nucleus of the feline visual system

16.06.2015 | Sivaram Viswanathan, Jaikishan Jayakumar, Trichur R Vidyasagar, European Journal of Neuroscience, 2015

Abstract Responses of most neurons in the primary visual cortex of mammals are markedly selective for stimulus orientation and their orientation tuning does not vary with changes in stimulus contrast. The basis of such contrast invariance of orientation tuning was shown to be the higher ...


Enhanced analgesic effects of tramadol and common trace element coadministration in mice

16.06.2015 | Teodora Alexa, Aurelia Marza, Tudor Voloseniuc, Bogdan Tamba, Journal of Neuroscience Research, 2015

Chronic pain is managed mostly by the daily administration of analgesics. Tramadol is one of the most commonly used drugs, marketed in combination with coanalgesics for enhanced effect. Trace elements are frequent ingredients in dietary supplements and may enhance tramadol's analgesic effect ...


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