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Mice, Mutant Strains (10):
Recent article
Mice, Mutant Strains
Abstract
We have engineered genetic ablation of Pax7(+) cells to test whether there is any significant contribution to muscle regeneration after acute injury from cells other than this source. We find that such elimination of Pax7(+) cells completely blocks regenerative myogenesis either following injury to...
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PMID: 21828092
PDF is available here.
PDF is available here.
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Abstract
We show that mir-290-295 plays important roles in embryonic development as indicated by the partially penetrant lethality of mutant embryos. In addition, we show that in surviving mir-290-295-deficient embryos, female but not male fertility is compromised. This impairment in fertility arises from a...
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PMID: 21844366
PDF is available here.
PDF is available here.
Abstract
We show that megakaryocytes and platelets express connexin 37 (Cx37). Deletion of the Cx37 gene in mice shortens bleeding time and increases thrombus propensity. Aggregation is increased in murine Cx37(-/-) platelets or in murine Cx37(+/+) and human platelets treated with gap junction blockers. Intr...
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PMID: 21810657
PDF is available here.
PDF is available here.
Abstract
We examined the effects of CHOP deficiency on 2 types of arteriosclerosis: cuff injury-induced neointimal formation and hypercholesterolemia-induced atherosclerosis. Cuff injury-induced neointimal formation was markedly inhibited in CHOP(-/-) mice with suppressed aortic expression of inflammatory fa...
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PMID: 21810656
PDF is available here.
PDF is available here.
Abstract
We provide evidence that TrkB, the receptor of BDNF (brain-derived neurotrophic factor), may serve as a "synaptic tag." TrkB is transiently activated by weak theta-burst stimulation (TBS) that induces only early-phase LTP (E-LTP). This TrkB activation is independent of protein synthesis, and confine...
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PMID: 21849537
PDF is available here.
PDF is available here.
Abstract
We now find that the v-SNARE tetanus toxin-insensitive vesicle-associated membrane protein (VAMP7) differs from other synaptic vesicle proteins in its distribution to the two pools, providing evidence that they differ in molecular composition. We also find that both resting and recycling pools under...
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PMID: 21835344
PDF is available here.
PDF is available here.
Autoimmunity Reviews (10)10 2011
Abstract
Systemic sclerosis (SSc) is an autoimmune disease characterized by excessive extracellular matrix (ECM) deposition in the skin and other visceral organs and it is associated with immune activation characterized by autoantibody production, release of various cytokines and T-lymphocyte...
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PMID: 21545850
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1811)10 2011
Abstract
We focused on the formation of N-acylethanolamines from pNAPEs. While recombinant NAPE-PLD catalyzed direct release of N-palmitoylethanolamine from N-palmitoylethanolamine plasmalogen, the same reaction occurred in the brain homogenate of NAPE-PLD-deficient mice, suggesting that this reaction occurs...
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PMID: 21801852
PDF is available here.
PDF is available here.
Neurochemical Research (36)7 2011
Abstract
Biochimica et Biophysica Acta (1811)10 2011
Abstract
We show that in cultured primary neurons nerve growth factor increases the amount of CTβ2, but not CTα, mRNA and protein. The brains of mice lacking CTβ2 had normal PC content despite having 35% lower CT activity than wild-type brains. CTβ2 mRNA and protein are abundant in distal axons of mouse...
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PMID: 21736954
PDF is available here.
PDF is available here.
Abstract
We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterized by claw-shaped nails, onychauxis, and onycholysis. Genome-wide SNP array analysis of affected individuals f...
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PMID: 21665003
PDF is available here.
PDF is available here.
Abstract
The prevalence of obesity and related disorders such as metabolic syndrome has vastly increased throughout the world. Recent insights have generated an entirely new perspective suggesting that our microbiota might be involved in the development of these disorders. Studies have demonstrated that obesi...
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PMID: 21633181
PDF is available here.
PDF is available here.
Abstract
We evaluate how investigation of molecular timing may create new opportunities to understand and develop therapies for obesity and diabetes....
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PMID: 21633182
PDF is available here.
PDF is available here.
Abstract
We provide an update on the role of LD-associated proteins and LDs in metabolic disease....
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PMID: 21633178
PDF is available here.
PDF is available here.
Abstract
We discuss how genetic studies in humans have contributed to our understanding of the central pathways that govern energy homeostasis. We discuss how the arrival of technological advances such as next-generation sequencing will result in a major acceleration in the pace of gene discovery. The study...
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PMID: 21633175
PDF is available here.
PDF is available here.
Abstract
We demonstrate hematopoietic defects reminiscent of premature HSC aging, including anemia, lymphopenia, and myeloid lineage skewing. However, in contrast to physiological stem cell aging, rapidly accumulating mitochondrial DNA mutations had little functional effect on the hematopoietic stem cell poo...
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PMID: 21549326
PDF is available here.
PDF is available here.
Abstract
We generated mice with osteocyte-specific expression of inducible Lrp5 mutations that cause high and low bone mass phenotypes in humans. We found that bone properties in these mice were comparable to bone properties in mice with inherited mutations. We also induced an Lrp5 mutation in cells that for...
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PMID: 21602802
PDF is available here.
PDF is available here.
Abstract
We have shown that an azabisphosphonate (ABP)-capped dendrimer selectively targets monocytes and directs them toward anti-inflammatory activation. We explored this property to assess the therapeutic potential of dendrimer ABP in the treatment of an inflammatory disease, rheumatoid arthritis. Intrave...
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PMID: 21543721
PDF is available here.
PDF is available here.
médecine/sciences (27)5 2011
Abstract
Abstract
We provide a murine model of phosphate nephropathy and secondary hyperparathyroidism, which can be used for future pharmacologic and pathophysiologic studies to analyze the effect of hyperphosphatemia on renal, metabolic, and cardiovascular phenotypes....
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PMID: 21514417
PDF is available here.
PDF is available here.
Abstract
Endothelial dysfunction and atherosclerosis are chronic inflammatory diseases characterized by activation of the innate and acquired immune system. Specialized protein receptors of the innate immune system recognize products of microorganisms and endogenous ligands such as nucleic acids. Toll-like re...
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PMID: 21493895
PDF is available here.
PDF is available here.
Abstract
Syndecan-4 (Syn4), a cell-surface heparan sulfate proteoglycan, has been detected in the infarct region after myocardial infarction (MI), but its functional significance has not been elucidated.
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PMID: 21493899
PDF is available here.
PDF is available here.
Abstract
Mast cells (MCs) contribute to the formation of abdominal aortic aneurysms (AAAs) by producing biologically active mediators. Tryptase is the most abundant MC granule protein and participates in MC activation, protease maturation, leukocyte recruitment, and angiogenesis-all processes critical to AAA...
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PMID: 21493897
PDF is available here.
PDF is available here.
Abstract
We examined the influence of gender on the development of PAH in SERT+ mice and how this is modulated by female hormones....
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PMID: 21177701
PDF is available here.
PDF is available here.
Abstract
We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SR...
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PMID: 21473986
PDF is available here.
PDF is available here.
Abstract
We examined behavioral performance in the open field and elevated zero maze and shock-startle response of 12-month-old wild-type mice injected with MA once (1mg/kg) 30min prior to behavioral testing. MA treatment resulted in behavioral sensitization in the open field, consistent with studies in youn...
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PMID: 21466792
PDF is available here.
PDF is available here.
Abstract
We performed a phenotype-driven ENU mutagenesis screen in mice with the aim of identifying novel alleles in an unbiased manner, that are critically required for early craniofacial development. Here we describe 10 new mutant lines, which exhibit phenotypes affecting frontonasal and pharyngeal arch pa...
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PMID: 21305688
PDF is available here.
PDF is available here.
Abstract
We describe our use of Multidimensional Protein Identification Technology (MudPIT) to compare protein expression in colon tumors to that of adjacent healthy colon tissue from ApcMin/+ mice. Twenty-seven proteins were found to be up-regulated in colon tumors and twenty-five down-regulated. As an exte...
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PMID: 21366352
PDF is available here.
PDF is available here.
Abstract
We compared the skeletal phenotype of wild-type (ERα(+/+)) and ERα knock out (ERα(-/-)) mice with that of mice in which the only ERα present had a knock-in mutation abolishing ERE binding (non-classical ERα knock-in [NERKI], ERα(-/NERKI)). All three groups were in the same genetic background (...
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PMID: 21458604
PDF is available here.
PDF is available here.
Journal of Hepatology (55)4 2011
Abstract
Our aim is to determine the outcomes of reduced BA levels upon liver injury. Methods 70% partial hepatectomy (PH) and carbon tetrachloride (CCl(4)) treatment were performed using CYP27(-/-) mice, a genetic animal model with low BA levels. The liver repair of CYP27(-/-) mice after the treatments was...
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PMID: 21334403
PDF is available here.
PDF is available here.
Thrombosis and Haemostasis (105)4 2011
Abstract
A patient with severe haemophilia B with a glycine-to-valine missense mutation at residue 190 (c25, chymotrypsin numbering) in factor IX (FIX; FIX-G190V or FIX-FuChou) had
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PMID: 21301787
PDF is available here.
PDF is available here.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia (146)1 2011
Abstract
The study of stem cells in the epidermis is a rapidly emerging field. Great advances have been made in both basic and clinical research. Advances in basic science include the ability to assay stem cells of the epidermis in vivo, new strong evidence for the existence of an independent interfollicular...
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PMID: 21317858
PDF is available here.
PDF is available here.
Thrombosis and Haemostasis (105)4 2011
Abstract
We have adapted a non-myeloablative conditioning regimen and directed factor VIII (FVIII) protein synthesis to B lineage cells using an insulated lentiviral vector containing an immunoglobulin heavy chain enhancer-promoter. Transplantation of lentiviral vector-modified HSCs resulted in therapeutic l...
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PMID: 21264447
PDF is available here.
PDF is available here.
Abstract
We show that Rcan2 plays an important role in the development of age- and diet-induced obesity. We found that although the loss of Rcan2 function in mice slowed growth in the first few weeks after birth, it also significantly ameliorated age- and diet-induced obesity in the mice by causing a reducti...
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PMID: 21298050
PDF is available here.
PDF is available here.
Abstract
Adenosine is involved in several neurological and behavioral disorders including alcoholism. In cultured cell and animal studies, type 1 equilibrative nucleoside transporter (ENT1, slc29a1), which regulates adenosine levels, is known to regulate ethanol sensitivity and preference. Interestingly, in h...
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PMID: 21283641
PDF is available here.
PDF is available here.
Abstract
An omphalocele is one of the major ventral body wall malformations and is characterized by abnormally herniated viscera from the body trunk. It has been frequently found to be associated with other structural malformations, such as genitourinary malformations and digit abnormalities. In spite of its...
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PMID: 21283718
PDF is available here.
PDF is available here.
Abstract
These results suggest the age-related decline in GH helps to preserve systemic insulin sensitivity, and in the context of moderate caloric intake, prevents the deterioration in metabolic function. However, in the context of excess caloric intake, low GH leads to impaired insulin output, and thereby...
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PMID: 21283519
PDF is available here.
PDF is available here.
Abstract
We therefore hypothesized that MKP-1 is a crucial modulator of hypoxia-stimulated vessel development by regulating lung VEGF levels. Wild-type MKP-1(+/+), heterozygous MKP-1(+/-), and deficient MKP-1(-/-) mice were exposed to sea level (SL), Denver altitude (DA) (1609 m [5280 feet]), and severe high...
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PMID: 21224048
PDF is available here.
PDF is available here.
Abstract
The mechanisms initiating eosinophil influx into sites of inflammation have been well studied in allergic disease but are poorly understood in other settings. This study examined the roles of TLR2 and mast cells in eosinophil accumulation during a nonallergic model of eosinophilia-associated colitis....
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PMID: 21224053
PDF is available here.
PDF is available here.
Abstract
We used an established murine model of cryptococcal lung infection and flow cytometric analysis to identify alveolar macrophages (AMs) and the recently described exudate macrophages (ExMs). Exudate macrophages are distinguished from AMs by their strong expression of CD11b and major histocompatibilit...
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PMID: 21224057
PDF is available here.
PDF is available here.
Abstract
Cerebral malaria is the most severe neurologic complication in children and young adults infected with Plasmodium falciparum. T-cell activation is required for development of Plasmodium berghei ANKA (PbA)-induced experimental cerebral malaria (CM). To characterize the T-cell activation pathway involv...
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PMID: 21224058
PDF is available here.
PDF is available here.
Abstract
We report the unique role of arachidonate 5-lipoxygenase (Alox5) in the regulation of specific humoral immune responses. We previously reported an L22 monoclonal antibody with which human primary resting B cells in the mantle zones of lymphoid follicles are well-defined. Proteomics analyses enabled...
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PMID: 21224059
PDF is available here.
PDF is available here.
Abstract
We induced β-cell depletion in RhoB(+/+), RhoB(+/-), and RhoB(-/-) mice with streptozotocin (STZ). Diabetic status was assessed by glucose tolerance and pancreatic islet loss. RhoB(-/-) mice showed a significant reduction in the severity of STZ-induced diabetes; only 13% of the STZ-treated RhoB-nul...
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PMID: 21224061
PDF is available here.
PDF is available here.
Abstract
Mutations resulting in progranulin haploinsufficiency cause disease in patients with a subset of frontotemporal lobar degeneration; however, the biological functions of progranulin in the brain remain unknown. To address this subject, the present study initially assessed changes in gene expression an...
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PMID: 21224065
PDF is available here.
PDF is available here.
Abstract
We previously demonstrated that the absence of beta-arrestin 2 (beta-arr2) augments the constitutive coupling of mu receptors to voltage-activated Ca2+ channels in primary afferent dorsal root ganglion neurons from beta-arr2-/- mice. We used this in vitro approach to characterize neutral competitive...
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PMID: 21486473
PDF is available here.
PDF is available here.
Abstract
We identified a recessive germline mutant, designated Lampe1 that exhibited growth retardation and spontaneous hepatosteatosis. Low resolution mapping based on 20 intercrossed Lampe1 mice revealed linkage to a ∼14 Mb interval on the distal site of chromosome 11 containing a total of 285 genes. Exo...
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PMID: 21760938
PDF is available here.
PDF is available here.
Abstract
We examined the effects of a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) on the progression of otitis media and hearing impairment at various developmental stages. We found that all mice that had the Sh3pxd2b(nee) mutation went on to develop craniofacial dysmorphologies and subsequently otitis med...
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PMID: 21818352
PDF is available here.
PDF is available here.
Abstract
We previously found a striking effect on coordination between the two dynein motor domains, resulting in a defect in dynein run length in vitro and in vivo....
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PMID: 21612657
PDF is available here.
PDF is available here.
Abstract
We have shown that activity of mTOR complex 1 (mTORC1), a kinase that senses nutrient availability, was enhanced in the podocytes of diabetic animals. Further, podocyte-specific mTORC1 activation induced by ablation of an upstream negative regulator (PcKOTsc1) recapitulated many DN features, includi...
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PMID: 21606597
PDF is available here.
PDF is available here.
Abstract
We tested the hypothesis, whether reduced functional receptor availability in mutant mice resulted in increased cellular and molecular inflammatory response during acute inflammation and/or in an impairment of its resolution.
To address this hypothesis we examined the effects of a ca...
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PMID: 21933390
PDF is available here.
PDF is available here.
Abstract
We tested the hypothesis, whether reduced functional receptor availability in mutant mice resulted in increased cellular and molecular inflammatory response during acute inflammation and/or in an impairment of its resolution.
To address this hypothesis we examined the effects of a ca...
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PMID: 21933390
PDF is available here.
PDF is available here.
Abstract
We tested the hypothesis, whether reduced functional receptor availability in mutant mice resulted in increased cellular and molecular inflammatory response during acute inflammation and/or in an impairment of its resolution.
To address this hypothesis we examined the effects of a ca...
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PMID: 21933390
PDF is available here.
PDF is available here.
Abstract
We used a gene-targeting approach and generated two novel knock-in mouse models of mutated IGF1, in which the native Igf1 gene was replaced by Des-Igf1 (KID mice) or R3-Igf1 (KIR mice). The KID and KIR mutant proteins have reduced affinity for the IGFBPs, and therefore present as unbound IGF1, or 'f...
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PMID: 21628395
PDF is available here.
PDF is available here.
Abstract
These results suggest that post-natal onset CRF over-expression results in an impairment of dopamine signaling in the hippocampus, which may underlie cognitive and motivational aspects of stress-related, CRF-driven mood disorders....
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PMID: 21552199
PDF is available here.
PDF is available here.
Abstract
We investigated whether the transcriptome of smooth muscle cells is different between atherosclerosis-prone and atherosclerosis-resistant regions in apolipoprotein E-deficient (apoE-/-) mice before plaque development, and in C57Bl/6 mice.
De-endothelialized aortas (both strains: 3 males, 3 females,...
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PMID: 20606469
PDF is available here.
PDF is available here.
Mutation Research (707)1-2 2011
Abstract
We observed intrachromosomal deletions (10-21bp) associated with oxidative DNA damage exclusively in the cerebellum of four out of five young hq disease mice (p=0.0001). The pattern of mutation in the cerebellum of hq disease and Aif-proficient mice was similar. This mutation pattern is typical of p...
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PMID: 21195094
PDF is available here.
PDF is available here.
Abstract
We have previously established MC2R(-/-) mice, a model of familial glucocorticoid deficiency, that show several similarities to patients with this disease, including undetectable levels of corticosterone, despite high levels of ACTH and unresponsiveness to ACTH. In this study, we analyzed the possib...
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PMID: 21056545
PDF is available here.
PDF is available here.
Abstract
We report that mice lacking the POZ (Poxvirus and zinc finger) domain of the transcription factor Miz-1 (Zbtb17(ΔPOZ/ΔPOZ)) almost entirely lacked follicular B cells, as shown by the fact that their progenitors failed to activate the Jak-Stat5 pathway and to upregulate the antiapoptotic gene Bcl2...
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PMID: 21167753
PDF is available here.
PDF is available here.
Abstract
We use alopecia and excoriation mice, a new mouse mutation in this gene, as our research model. This mutation exhibits progressive hair loss, from head to the whole back, and followed by hair regrowth. We test that Gsdma3 is expressed in matrix, inner root sheath, and hair shaft. Ultrastructural and...
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PMID: 20977888
PDF is available here.
PDF is available here.
Abstract
We show that TAp73 is expressed in neural stem cells (NSC) and its expression increases following their differentiation. NSC from p73 null mice have a reduced proliferative potential, together with reduced expression of members of the Sox-2 and Notch gene families known to be important for NSC proli...
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PMID: 20977890
PDF is available here.
PDF is available here.