نتایج جستجو برای: loss of function mice mutants

تعداد نتایج: 21309946  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه سیستان و بلوچستان - دانشکده مهندسی 1392

flow in natural river bends is a complex and turbulent phenomenon which affects the scour and sedimentations and causes an irregular bed topography on the bed. for the reason, the flow hydralics and the parameters which affect the flow to be studied and understand. in this study the effect of bed and wall roughness using the software fluent discussed in a sharp 90-degree flume bend with 40.3cm ...

2009
F E Mackenzie A Parker N J Parkinson P L Oliver D Brooker P Underhill V A Lukashkina A N Lukashkin C Holmes S D M Brown

Deafness is the most common sensory disorder in humans and the aetiology of genetic deafness is complex. Mouse mutants have been crucial in identifying genes involved in hearing. However, many deafness genes remain unidentified. Using N-ethyl N-nitrosourea (ENU) mutagenesis to generate new mouse models of deafness, we identified a novel semi-dominant mouse mutant, Cloth-ears (Clth). Cloth-ears ...

Journal: :Genes & development 1993
M Grompe M al-Dhalimy M Finegold C N Ou T Burlingame N G Kennaway P Soriano

Mice homozygous for the c14CoS albino deletion die as neonates as a result of liver dysfunction. Previous mapping studies have associated this defect with a 310-kb fragment encoding the hepatocyte-specific developmental regulation locus (alf/hsdr-1). The gene encoding fumarylacetoacetate hydrolase (Fah), a metabolic enzyme that catalyzes the last step of tyrosine catabolism, also maps to the sa...

Journal: :Annual review of cell biology 1989
H Westphal P Gruss

PROTO-ONCOGENES AND ONCOGENES...................... ... .......... ........................................... 183 HOMEOBOX, PAIRED BOX, AND FINGER STRUCTURE ENCODING GENES ............................... 186 Gain of Function Mutants......................................................................................... 187 Loss of Function Mutants ................................................

Journal: :Developmental dynamics : an official publication of the American Association of Anatomists 2005
Maja Adamska Allison C Billi Susannah Cheek Miriam H Meisler

Wnt7a and the Wnt coreceptor Lrp6 are both required for development of posterior digits and dorsal structures of the limb. We report that Lrp6 null mice lack Lmx1b expression in the distal mesenchyme, as previously described for Wnt7a mutants. The loss of Lmx1b expression in Wnt7a-/-Lrp6+/- double mutants did not differ from that in Wnt7a-/- mice. These data suggest that Wnt7a acts through Lrp6...

2009
William R. Swindell

Heat shock proteins (HSPs) have proven to be effective tools for extending invertebrate lifespan, and in C. elegans daf-2 mutants, longevity resulting from loss of insulin/insulin-like signals is at least partly dependent upon elevated HSP expression. In mice, inhibition of the orthologous growth hormone/insulin-like growth factor I (GH/IGF-I) pathway has similar pro-longevity effects. A recent...

Journal: :journal of fasting and health 0
zahra mishmast antimicrobial resistance research center, avicenna research institute, department of microbiology and virology, faculty of medicine, mashhad university of medical sciences, mashhad, iran reza rahimzadeh oskuee neurology and neurosurgery research group, students research committee, faculty of medicine, mashhad university of medical sciences, mashhad, iran amirali aryan antimicrobial resistance research center, avicenna research institute, department of microbiology and virology, faculty of medicine, mashhad university of medical sciences, mashhad, iran kamran ghafarzadegan department of pathology, mashhad university of medical sciences, mashhad, iran kiarash ghazvini antimicrobial resistance research center, avicenna research institute, department of microbiology and virology, faculty of medicine, mashhad university of medical sciences, mashhad, iran

introduction: caloric restriction is a strategy applied for weight loss. water fasting is a popular way for obesity treatment. however, little is known about the impact of water fasting on weight. therefore, this study was conducted to investigate the effect of short-term, repeated water fasting on the weight of mice. methods: in this study, the physiological effect of short-term, repeated wate...

Journal: :New Phytologist 2021

Previous studies of plant circadian clock evolution have often relied on models and genes defined in Arabidopsis. These identified homologues with seemingly conserved function, as well frequent gene loss. In the present study, we aimed to identify candidate liverwort Marchantia polymorpha using a more unbiased approach. To rhythm sequenced transcriptomes gemmalings time series constant light co...

Journal: :Disease models & mechanisms 2009
Francesca Achilli Virginie Bros-Facer Hazel P Williams Gareth T Banks Mona AlQatari Ruth Chia Valter Tucci Michael Groves Carole D Nickols Kevin L Seburn Rachel Kendall Muhammed Z Cader Kevin Talbot Jan van Minnen Robert W Burgess Sebastian Brandner Joanne E Martin Martin Koltzenburg Linda Greensmith Patrick M Nolan Elizabeth M C Fisher

Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutation that leads to a non-conservative substitution within GARS. Heterozygous mice with a C3H geneti...

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