نتایج جستجو برای: loss of function mice mutants

تعداد نتایج: 21309946  

Journal: :Journal of basic and clinical physiology and pharmacology 2000
N Ahituv K B Avraham

We have shown here several examples of how hearing and vestibular impaired mouse mutants are generated and the insight that they provide in the study of auditory and vestibular function. These types of genetic studies may also lead to the identification of disease-susceptibility genes, perhaps the most critical element in presbyacusis (age-related hearing loss). Some individuals may be more pro...

Journal: :Stress Biology 2021

Abstract Soil salinity severely hampers agricultural productivity. Under salt stress, excess Na + accumulation causes cellular damage and plant growth retardation, membrane transporters play central roles in uptake exclusion to mitigate these adverse effects. In this study, we performed sos1 suppressor mutant (named sup ) screening uncover potential genetic interactors of SOS1 additional tolera...

2011
Olivier Le Saux Krisztina Fülöp Yukiko Yamaguchi Attila Iliás Zalán Szabó Christopher N. Brampton Viola Pomozi Krisztina Huszár Tamás Arányi András Váradi

Loss-of-function mutations in ABCC6 can cause chronic or acute forms of dystrophic mineralization described in disease models such as pseudoxanthoma elasticum (OMIM 26480) in human and dystrophic cardiac calcification in mice. The ABCC6 protein is a large membrane-embedded organic anion transporter primarily found in the plasma membrane of hepatocytes. We have established a complex experimental...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علامه طباطبایی 1390

abstract because of the many geopolitical, geo economical and geo strategically potentials and communicational capabilities of eco region, members can expand the convergence and the integration in base of this organization that have important impact on members development and expanding peace in international and regional level. based on quality analyzing of library findings and experts interv...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 1996
Y Watanabe R S Johnson L S Butler D K Binder B M Spiegelman V E Papaioannou J O McNamara

It has been suggested that expression of the immediate early gene c-fos links fleeting changes in neuronal activity to lasting modifications of neuronal structure and function in the mammalian nervous system. To test this idea, we examined behavioral and electrophysiological indices of kindling development and kindling-induced sprouting of hippocampal granule cell axons in wild-type (+/+), hete...

Journal: :Development 2009
Man-Chun Ting Nancy L Wu Paul G Roybal Jingjing Sun Liqiong Liu Youzhen Yen Robert E Maxson

Heterozygous loss of Twist1 function causes coronal synostosis in both mice and humans. We showed previously that in mice this phenotype is associated with a defect in the neural crest-mesoderm boundary within the coronal suture, as well as with a reduction in the expression of ephrin A2 (Efna2), ephrin A4 (Efna4) and EphA4 in the coronal suture. We also demonstrated that mutations in human EFN...

Journal: :Cell 1997
Jie Shen Roderick T Bronson Dong Feng Chen Weiming Xia Dennis J Selkoe Susumu Tonegawa

Presenilin-1 (PS1) is the major gene responsible for early-onset familial Alzheimer's disease (FAD). To understand the normal function of PS1, we have generated a targeted null mutation in the murine homolog of PS1. We report that PS1-/- mice die shortly after natural birth or Caesarean section. The skeleton of homozygous mutants is grossly deformed. Hemorrhages occur in the CNS of PS1 null mut...

Marzieh Karimi Rayhaneh Ebadi Razieh Pourahmad Jaktaji,

   Ciprofloxacin is one of the most widely used antibiotics for the treatment of several infections caused by Gram-negative bacteria, like E. coli. Changes in gyrA, encoding GyrA subunit of DNA gyrase, cause the resistance to ciprofloxacin. Some ciprofloxacin resistant gyrA mutants acquired constitutive expression of marRAB operon due to the gaining mutations in marR, a repressor of this operon...

2010
Mihai Moldovan Susana Alvarez Volodymyr Pinchenko Dennis Klein Finn Cilius Nielsen John N. Wood Rudolf Martini Christian Krarup

Myelin protein zero mutations were found to produce Charcot–Marie–Tooth disease phenotypes with various degrees of myelin impairment and axonal loss, ranging from the mild ‘demyelinating’ adult form to severe and early onset forms. Protein zero deficient homozygous mice (P = 0 ) show a severe and progressive dysmyelinating neuropathy from birth with compromised myelin compaction, hypomyelinatio...

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