نتایج جستجو برای: loss of function mice mutants

تعداد نتایج: 21309946  

Esmaiel Abounoori, Mohsen Ali Heydari

In this paper we intend to examine the application of Kullback-Leibler, Hellinger and LINEX loss function in Dynamic Linear Model using the real price of oil for 106 years of data from 1913 to 2018 concerning the asymmetric problem in filtering and forecasting. We use DLM form of the basic Hoteling Model under Quadratic loss function, Kullback-Leibler, Hellinger and LINEX trying to address the ...

2015
Shuying Sun Shuo-Chien Ling Jinsong Qiu Claudio P. Albuquerque Yu Zhou Seiya Tokunaga Hairi Li Haiyan Qiu Anh Bui Gene W. Yeo Eric J. Huang Kevin Eggan Huilin Zhou Xiang-Dong Fu Clotilde Lagier-Tourenne Don W. Cleveland

The RNA-binding protein FUS/TLS, mutation in which is causative of the fatal motor neuron disease amyotrophic lateral sclerosis (ALS), is demonstrated to directly bind to the U1-snRNP and SMN complexes. ALS-causative mutations in FUS/TLS are shown to abnormally enhance their interaction with SMN and dysregulate its function, including loss of Gems and altered levels of small nuclear RNAs. The s...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پایه 1391

bekenstein and hawking by introducing temperature and every black hole has entropy and using the first law of thermodynamic for black holes showed that this entropy changes with the event horizon surface. bekenstein and hawking entropy equation is valid for the black holes obeying einstein general relativity theory. however, from one side einstein relativity in some cases fails to explain expe...

Journal: :Development 2002
Oscar Marín Joshua Baker Luis Puelles John L R Rubenstein

We have investigated the mechanisms that control the guidance of corticofugal projections as they extend along different subdivisions of the forebrain. To this aim, we analyzed the development of cortical projections in mice that lack Nkx2-1, a homeobox gene whose expression is restricted to two domains within the forebrain: the basal telencephalon and the hypothalamus. Molecular respecificatio...

Journal: :Human molecular genetics 2014
Sara Cioffi Stefania Martucciello Filomena Gabriella Fulcoli Marchesa Bilio Rosa Ferrentino Edoardo Nusco Elizabeth Illingworth

The transcription factor TBX1 is the major gene involved in 22q11.2 deletion syndrome (22q11.2DS). Using mouse models of these diseases, we have previously shown that TBX1 activates VEGFR3 in endothelial cells (EC), and that this interaction is critical for the development of the lymphatic vasculature. In this study, we show that TBX1 regulates brain angiogenesis. Using loss-of-function genetic...

Journal: :Vision Research 2002
B. Chang N. L. Hawes R. E. Hurd M. T. Davisson S. Nusinowitz J. R. Heckenlively

The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal place to look for genetically determined eye variations and disorders. Through ophthalmoscopy, electroretinography and histology, we have discovered disorders affecting all aspects of the eye including the lid, cornea, iris, lens and retina, resulting in corne...

Journal: :American journal of physiology. Heart and circulatory physiology 2012
Richard J B Francis Adam Christopher William A Devine Lawrence Ostrowski Cecilia Lo

Complex congenital heart disease (CHD) is often seen in conjunction with heterotaxy, the randomization of left-right visceral organ situs. However, the link between cardiovascular morphogenesis and left-right patterning is not well understood. To elucidate the role of left-right patterning in cardiovascular development, we examined situs anomalies and CHD in mice with a loss of function allele ...

Journal: :Journal of Investigative Dermatology 2022

Psoriasis arises from poorly defined pathological crosstalk between keratinocytes and the immune system. BCL10 MALT1 are ubiquitously expressed inflammatory signalling proteins that can interact with psoriasis susceptibility factor CARD14, but their functions in insufficiently understood. To explore roles of skin diseases, we engineered a series conditional mouse mutants to specifically activat...

2016
Kuchuan Chen Tammy Szu-Yu Ho Guang Lin Kai Li Tan Matthew N Rasband Hugo J Bellen

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by mutations in Frataxin (FXN). Loss of FXN causes impaired mitochondrial function and iron homeostasis. An elevated production of reactive oxygen species (ROS) was previously proposed to contribute to the pathogenesis of FRDA. We recently showed that loss of frataxin homolog (fh), a Drosophila homolog of FXN,...

Journal: :Experimental animals 2011
Lin Xu Zixing Wang Xiwen Xiong Xingxing Gu Xiang Gao Xia Gao

N-ethyl-N-nitrosourea (ENU)-induced mutagenesis is an important approach in the study of gene function and the establishment of human disease models. Here we report an ENU-induced mutation, Elfin, as a mouse model with hearing loss. Homozygous mutants were deaf and displayed severe ataxia, while heterozygous mice had a significant hearing loss. Histological analysis of the inner ear revealed th...

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