Mutants inner cell. Medical search. Frequent questions

Many tumor cell lines and experimental tumors respond to HDAC inhibition. (aacrjournals.org)
Chronic exposure of rats resulted in increased thyroid follicular cell tumors from sustained perturbation of thyroid hormone homeostasis. (cdc.gov)

As a consequence, the mutant chinmo allele acts as a gene drive. (lu.se)
Temperature sensitive mutants arrange a reversible mechanism and are able to reduce particular gene products at varying stages of growth and are easily done by changing the temperature of growth. (wikipedia.org)
The permissive temperature is the temperature at which a temperature-sensitive mutant gene product takes on a normal, functional phenotype. (wikipedia.org)
When a temperature-sensitive mutant is grown in a permissive condition, the mutated gene product behaves normally (meaning that the phenotype is not observed), even if there is a mutant allele present. (wikipedia.org)
Because multiple copies of a polypeptide specified by a gene often form multimers, mixed infections with two different ts mutants defective in the same gene often leads to mixed multimers and partial restoration of function, a phenomenon referred to as intragenic complementation. (wikipedia.org)
Intragenic complementation of ts mutants defective in the same gene can provide information on the structural organization of the multimer. (wikipedia.org)
To address the question of specificity for the allele encoding the Na V 1.4-R669H variant as a cause of HypoPP and to produce a model system in which to characterize functional defects of the mutant channel and susceptibility to paralysis, we generated knockin mice carrying the ortholog of the gene encoding the Na V 1.4-R669H variant (referred to herein as R669H mice). (jci.org)
EUCOMM is forecasted to produce 20,000 ' mutant ' mouse stem cells , each with one gene 'knocked-out', and will complement the World Stem Cell Hub. (progress.org.uk)
The present invention further relates to mutants cells comprising a marker-free modification of a gene, and methods for obtaining and using such mutant cells. (justia.com)
To assess the role of an individual HDAC isoenzyme in physiology and tumor development, HDAC2-mutant mice were generated from a gene trap embryonic stem cell clone. (aacrjournals.org)
It is hoped that one day, a controlled form of the mutant gene could be used to end bone disease. (listverse.com)
Interestingly, there are two versions of this mutant gene, and athletes with both have been found to perform consistently better than their conventionally chromosomed counterparts. (listverse.com)
Stable transfectants of rat wild type HO-1 cDNA (HO-1-U937) and those of its H25A mutant gene (mHO-1-U937) were established using human monoblastic lymphoma cell U937. (elsevierpure.com)
These results provided evidence that gene transfection of the activity-lacking mutant HO-1 protects cells against oxidative stress through multiple mechanisms involving up-regulation of catalase and glutathione contents. (elsevierpure.com)
Overall, this gene silencing strategy allowed researchers to establish "the first human induced pluripotent stem cells with stable huntingtin knock-down, and they can be helpful for in vitro research on huntingtin functions in human development," the study concluded. (huntington.cl)
which means both copies of the gene in each cell have mutations. (medlineplus.gov)
Sickle-cell anaemia is particularly common among people whose ancestors come from sub-Saharan Africa, India, Saudi Arabia and Mediterranean countries, and migration raised the frequency of the gene in the American continent. (who.int)
This distribution reflects the fact that sickle-cell trait confers a survival advantage against malaria and that selection pressure due to malaria has resulted in high frequencies of the mutant gene especially in areas of high malarial transmission. (who.int)
For example, in Nigeria, by far the most populous country in the subregion with about 120 million inhabitants, 24% of the population are carriers of the mutant gene and the prevalence of sickle-cell anaemia is about 20 per 1000 births. (who.int)
The sickle-cell gene has become common in Africa because the sickle-cell trait confers some resistance to falciparum malaria during a critical period of early childhood, favouring survival of the host and subsequent transmission of the abnormal haemoglobin gene. (who.int)
Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to sickle-cell anaemia and confers no such protection, and malaria is a major cause of ill-health and death in children with sickle-cell anaemia. (who.int)
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. (bvsalud.org)

Surprisingly, chinmo-/- GSCs rely on a new mechanism of competition in which they secrete the extracellular matrix protein Perlecan to selectively evict non-mutant GSCs and then upregulate Perlecan-binding proteins to remain in the altered niche. (lu.se)
Mutant presenilin 1 proteins induce cell death and reduce tau-dependent processes outgrowth. (ox.ac.uk)
The expression of familial Alzheimer's disease mutants of presenilin-1 (PS1) proteins has been observed to induce cell death in cellular systems. (ox.ac.uk)
To investigate how this phenomenon might be associated to alterations of the microtubule network, we have studied the effect of wild-type and mutant (C263R, P264L and delta9) PS1 proteins expression on the formation of microtubule-dependent processes outgrowth and the association of PS1 to the insoluble cytoskeletal fraction in a cell line expressing the tau microtubule-associated protein. (ox.ac.uk)
However, the mutant PS1 proteins increased the proportion of insoluble tau in the cytoskeletal fraction and they were concentrated in the same fraction. (ox.ac.uk)
These results suggest that PS1 proteins interact with the microtubule network, affect its organization and that this phenomenon, more marked for the PS1 mutants, might play a role in the cell dysfunction induced by mutant PS1 proteins. (ox.ac.uk)
axonemes of these mutants are missing three high molecular weight proteins which are probably components of the central tubule-central sheath complex. (rupress.org)
The normal function of SPOP is to control the level of certain proteins within a cell. (stjude.org)
Recent evidence indicates that altered degradation rate of mutant proteins represents a pathogenic mechanism underlying genetic diseases. (frontiersin.org)
Non-resistant fish have special proteins in their cells that allow the poisons to bind. (creation.com)

Previously we reported that increased lateral deviation while ambulating and slips while traversing a narrow beam of ataxic Kcnc3 -null mice were corrected by restoration of Kv3.3 channels specifically to Purkinje cells, whereas Kcnc3 -mutant mice additionally lacking one Kcnc1 allele were partially rescued. (jneurosci.org)

These genes and pathways de-regulated by c-Src(mt) may provide suitable biomarkers or targets of therapeutic approaches for metastatic cells. (nih.gov)
Addgene: Egg cell-specific promoter-controlled CRISPR/Cas9 efficiently generates homozygous mutants for multiple target genes in Arabidopsis in a single generation. (addgene.org)
Most of the mutant genes turned out to be recessive. (duke.edu)
Disruption of these genes resulted in suppression of the defects of the ste12Delta cells, including low mating efficiency and formation of large vacuoles. (duke.edu)
Temperature-sensitive mutants are variants of genes that allow normal function of the organism at low temperatures, but altered function at higher temperatures. (wikipedia.org)
Mutations to essential genes are generally lethal and hence temperature-sensitive mutants enable researchers to induce the phenotype at the restrictive temperatures and study the effects. (wikipedia.org)
In the late 1970s, the budding yeast secretory pathway, essential for viability of the cell and for growth of new buds, was dissected using temperature-sensitive mutants, resulting in the identification of twenty-three essential genes. (wikipedia.org)
In the 1970s, several temperature-sensitive mutant genes were identified in the fruit fly, such as shibirets, which led to the first genetic dissection of synaptic function. (wikipedia.org)
However, a co-infection under restrictive conditions with two ts mutants defective in different genes generally leads to robust growth because of intergenic complementation. (wikipedia.org)
The discovery of ts mutants of phage T4, and the employment of such mutants in complementation tests contributed to the identification of many of the genes in this organism. (wikipedia.org)
Growth of phage ts mutants under partially restrictive conditions has been used to identify the functions of genes. (wikipedia.org)
These cold sensitive mutants defined a discrete set of genes, some of which had been previously identified by other types of conditional lethal mutants. (wikipedia.org)
This library would make it easier and faster for researchers to obtain mouse stem cells with specific genes already 'knocked-out' so that they will not need to spend the time. (progress.org.uk)
The overall goals of this program were to produce and distribute mutant models for infertility and to investigate underlying causes in order to identify new genes and pathways contributing to reproductive function. (jax.org)
Sickle-cell anaemia is a common genetic condition due to a haemoglobin disorder - inheritance of mutant haemoglobin genes from both parents. (who.int)
About 5% of the world's population carries genes responsible for haemoglobinopathies and each year about 300 000 infants are born with major haemoglobin disorders - in more than 200 000 cases sickle-cell anaemia in Africa. (who.int)

such distinct susceptibility between the cells was ascribable to differences in the capacity to scavenge H 2 O 2 through catalase and to execute iron-mediated oxidant propagation. (elsevierpure.com)
mutants down-regulate AML cell susceptibility to NK-mediated lysis by disruption of the expression of NKG2D ligands, which can be restored by LSD1 inhibition. (bvsalud.org)
We further showed that the increase in NK susceptibility caused by C/EBPα-p42 occurred through up-regulation of the NKG2D-Ls ULBP2/5/6 in AML cells . (bvsalud.org)

Here we show that hypomorphic alleles of Zap70 or chemical inhibition of Zap70 catalysis leads to an increase of IFN-γ-producing iNKT cells (NKT1 cells), suggesting that NKT1 cells may require a lower TCR signal threshold. (nih.gov)
Finally, we identified that histone demethylase lysine -specific demethylase 1 (LSD1) inhibition can restore the expression of ULBPs via induction of CEBPA expression in AML cells , which may represent a novel therapeutic strategy for CEBPA-mutated AML. (bvsalud.org)
Inhibition of DDR1/2 led to a reduction in the activation of KIT and its downstream signaling molecules, ultimately impairing GIST cell survival and proliferation in vitro. (lu.se)

Using the Drosophila testis model, we show that germline stem cells (GSCs) lacking the transcription factor Chinmo gain a competitive advantage for niche access. (lu.se)
Light-induced pigment granule migration in the retinular cells of Drosophila melanogaster. (cdc.gov)
The dependence of pigment granule migration (PGM) upon the receptor potential was examined using several strains of electroretinogram (ERG)-defective mutants of Drosophila melanogaster. (cdc.gov)

Usage information: Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome. (jci.org)
Here we report isolation by the P9OH/UV method of a peroxisome-deficient CHO mutant, ZP92, of the third complementation group distinct from those of Z24 and Z65. (jci.org)
Complementation analysis by cell fusion of the CHO mutants with cultured fibroblasts from patients with generalized peroxisomal disorders revealed that two CHO mutants (Z24 and ZP92) represent the human complementation groups, E (the same as group 1 in the U.S.) and C (the same as group 4), respectively. (jci.org)

The cells represent a potential resource to investigate the function of the huntingtin protein in vitro (in a lab culture dish or test tube). (huntington.cl)
Importantly, all Scl1-negative mutants examined showed significantly decreased ability to form biofilm in vitro. (cdc.gov)

In a mouse experimental arthritis model, NKT17 cells are increased as the disease progresses, while NKT1 numbers negatively correlates with disease severity, with this protective effect of NKT1 linked to their IFN-γ expression. (nih.gov)
2 The polyglutamine expansion mutation causes disease by conferring a novel deleterious function on the mutant protein and the severity correlates with increasing CAG repeat number and expression levels in transgenic mice and in cell culture models. (bmj.com)
Shin D, Feltri ML, Wrabetz L. Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity. (medlineplus.gov)

While the experiments in the current paper were in progress, Leavitt et al 7 provided in vivo evidence suggesting that wild type huntingtin can protect against the gain of function mutation caused by the expanded polyglutamine tract in mutant huntingtin, using a YAC transgenic mouse model. (bmj.com)
A compound known to target EGFR/ErbB2/ErbB4 was identified as having excellent selectivity for T790M mutant EGFR (gatekeeper mutation). (genengnews.com)
These data support the development of mutation-specific correctors for optimal treatment of different CFTR trafficking mutants, and identify C5 and bithiazoles as the most promising compounds for correction of CFTR-p.Ala455Glu. (ersjournals.com)
A study published Tuesday found that the L452R mutation may enhance the ability of viruses to infect human cells in the laboratory. (nhpr.org)
To achieve this, scientists developed a mouse model with mutant p53, a p53 mutation detection array and small molecules that restore wild type function to mutant p53. (europa.eu)

In attempts to isolate new CHO glycosylation mutants, selection protocols using plant lectins that bind galactose residues of cell surface carbohydrates were applied to mutagenized CHO populations. (elsevierpure.com)
Five of the mutants had properties typical of new CHO glycosylation mutants. (elsevierpure.com)
Although they did not appear to be ricin-internalization or protein-synthesis mutants, they also did not display the marked alterations in sensitivity to several lectins of different sugar specificity expected for glycosylation mutants. (elsevierpure.com)

To identify opportunities to repurpose inhibitors against disease-associated mutant kinases, we conducted a large-scale functional screen of 183 known kinase inhibitors against 76 recombinant mutant kinases. (genengnews.com)
The results revealed lead compounds with activity against clinically important mutant kinases, including ALK, LRRK2, RET, and EGFR, as well as unexpected opportunities for repurposing FDA-approved kinase inhibitors as leads for additional indications. (genengnews.com)
Here, we investigated a radioiodinated PARP inhibitor, [ 125 I]KX1, and show drug target specific DNA damage and subsequent killing of BRCA1 and non-BRCA mutant ovarian cancer cells at sub-pharmacological concentrations several orders of magnitude lower than traditional PARP inhibitors. (osti.gov)

We previously isolated two Chinese hamster ovary (CHO) cell mutants (Z24 and Z65) that resemble the fibroblasts from patients with such diseases, in their defective peroxisome assembly (Tsukamoto, T., S. Yokota, and Y. Fujiki. (jci.org)
Mutant embryonic fibroblasts fail to respond to insulin-like growth factor I (IGF) by the IGF-I-induced increase in cell number observed in wild-type cells. (aacrjournals.org)

Here, we analyzed the mRNA expression signature of a constitutively active C-terminal mutant of c-Src, c-Src(mt), in comparison with its wild-type protein, c-Src(wt), in the human non-transformed breast epithelial cell line MCF-10A. (nih.gov)
To investigate the role of the cAMP-dependent protein kinase (PKA) in the desensitization and down-regulation of the D 1 dopamine receptor, we stably expressed the rat cDNA for this receptor in mutant Chinese hamster ovary (CHO) cell lines deficient in PKA activity. (aspetjournals.org)
Nobody knew what the TMEM63C protein did inside cells, but the researchers had a hunch. (the-scientist.com)
Both organelles became misshapen in cells engineered to lack TMEM63C, which also suggests that the protein helps shape organelle morphology. (the-scientist.com)
The next step, Baple adds, is to confirm if, and how, the protein is involved in lipid processing, and if cells from people with HSP are deficient in the protein. (the-scientist.com)
The fine structure, protein composition, and roles in flagellar movement of specific axonemal components were studied in wild-type Chlamydomonas and paralyzed mutants pf-14, pf-15A, and pf-19. (rupress.org)
When SPOP is dysregulated through mutations, it can cause dramatic effects in the cell because protein levels are altered, triggering abnormal behaviors. (stjude.org)
For example, mutations in the MATH domain [the part of SPOP that binds substrates] affected the propensity of the protein to assemble and hang around in cells. (stjude.org)
In consequence, protein turnover of WT-TRPM4 and TRPM4 variants overexpressed in HEK293 cells was analyzed using cycloheximide, an inhibitor of protein biosynthesis. (frontiersin.org)
Researchers generated the first human line of Huntington's disease induced pluripotent stem cells (iPSCs) that do not express the dysfunctional protein underlying the condition. (huntington.cl)
Recent studies with new cellular models, including patient-derived iPSCs and neuronal stem cells (NSCs), suggest a developmental role for the protein. (huntington.cl)
In fact, "studies in induced pluripotent stem cells in Huntington disease models have demonstrated that multiple molecular processes are altered by the mutant HTT protein and suggested its silencing as a promising therapeutic strategy," researchers wrote. (huntington.cl)
This way, they were able to investigate how a stable decrease of mutant HTT impacts other signaling pathways, focusing particularly on the factors previously reported as affected in Huntington's disease - the mitogen-activated protein kinase (MAPK), Wnt, and p53. (huntington.cl)
Researchers observed that in mouse Huntington's disease iPSC lines, the levels of HTT protein were inversely correlated with those of the p53 protein - the levels of p53 increased upon silencing the mutant HTT. (huntington.cl)

Scholars@Duke publication: Isolation of suppressor mutants of phosphatidylinositol 3-phosphate 5-kinase deficient cells in Schizosaccharomyces pombe. (duke.edu)

Zap70 mutant mice develop IL-17-dependent arthritis. (nih.gov)
Consistent with the transcriptome data, cells expressing c-Src(mt), but not those expressing c-Src(wt), showed the capacity to metastasize into the lungs of mice in vivo. (nih.gov)
ENU-mutagenesis of male mice was followed by a standard three-generation breeding scheme, with fertility testing of all G3 offspring in order to identify putative reproductive mutants. (jax.org)
They are the first class 1 HDAC mutant mice that are viable although they are ∼25% smaller than their littermates. (aacrjournals.org)
Crossing of HDAC2-mutant with tumor-prone APC min mice revealed tumor rates that are lower in HDAC2-deficient mice by 10% to 100% depending on segment of the gut and sex of the mice. (aacrjournals.org)
As Kcnc1 , but not Kcnc3 , alleles are lost, mutant mice exhibit increasing gait ataxia accompanied by spike broadening and deceleration in DCN neurons, suggesting the facet of coordination rescued by Purkinje-cell-restricted Kv3.3 restoration in mice lacking just Kcnc3 is hypermetria, while gait ataxia emerges when additionally Kcnc1 alleles are lost. (jneurosci.org)

p53 is involved in cell cycle regulation and loss of its function causes uncontrollable proliferation which is observed in cancer cells. (europa.eu)

It is not clear if this protective effect was confined to particular cell types, or if wild type huntingtin exerted its protective effect in this model by simply reducing the formation of toxic proteolytic fragments from mutant huntingtin. (bmj.com)
METHODS We cotransfected neuronal (SK-N-SH, human neuroblastoma) and non-neuronal (COS-7, monkey kidney) cell lines with HD exon 1 (containing either 21 or 72 CAG repeats) construct DNA and either full length wild type huntingtin or pFLAG (control vector). (bmj.com)
RESULTS Full length wild type huntingtin significantly reduced cell death resulting from the mutant HD exon 1 fragments containing 72 CAG repeats in both cell lines. (bmj.com)
Wild type huntingtin did not significantly modulate cell death caused by transfection of HD exon 1 fragments containing 21 CAG repeats in either cell line. (bmj.com)
CONCLUSIONS Our results suggest that wild type huntingtin can significantly reduce the cellular toxicity of mutant HD exon 1 fragments in both neuronal and non-neuronal cell lines. (bmj.com)
This suggests that wild type huntingtin can be protective in different cell types and that it can act against the toxicity caused by a mutant huntingtin fragment as well as against a full length transgene. (bmj.com)
However, Rigamonti et al 6 recently showed that wild type huntingtin can protect CNS cells from a variety of apoptotic stimuli, including serum withdrawal, stimulation of death receptors, and pro-apoptotic Bcl-2 homologues. (bmj.com)
Comparison of wild type with ERG-defective mutants Published Date : Feb 1981 Source : J Gen Physiol. (cdc.gov)
Expression of wild-type and mutant PS1 was associated with increased cell death, most marked for the P264L and delta9 mutants. (ox.ac.uk)
Kinases have been the target of extensive research to identify drugs to treat a variety of diseases in which the wild-type kinase or a mutant kinase plays a crucial role. (genengnews.com)
Drug repurposing has been hotly pursued by many groups, and here the authors took 183 small molecules, including 12 FDA-approved drugs, and screened them against a panel of 76 mutant kinases (covering 21 wild-type kinases), where all but 8 of the mutations have been implicated in a human disorder. (genengnews.com)
The 76 mutant kinases are grouped according to cognate wild-type kinase. (genengnews.com)
Under conditions where wild-type axonemes reactivated, axonemes of the three mutants remained intact but did not form bends. (rupress.org)
This results in the survival of the cell or organism, as if it were a wild type strain. (wikipedia.org)
However, if that ts mutant is irradiated with UV light, its survival will be more strongly reduced compared the reduction of survival of irradiated wild-type phage T4. (wikipedia.org)
Phytochrome mutants grow very differently from wild type plant (upper left) under the same conditions. (phys.org)
As part of an effort to create plants that can tolerate different growth conditions, Richard Vierstra the George and Charmaine Mallinckrodt Professor in Arts & Sciences at Washington University in St. Louis has been developing a library of phytochrome B mutants, including ones that are much more or less sensitive to light than the wild type plant. (phys.org)
To test this hypothesis, we first examined the endogenous expression of wild-type C/EBPα (C/EBPα-p42) in human AML cell lines and demonstrated that its expression level was highly relevant to the sensitivity of AML cells to NK cell cytotoxicity. (bvsalud.org)
Differences in architecture and cell-surface morphology were observed in biofilms formed by the M1- and M41-wild-type strains, accompanied by varying amounts of deposited extracellular matrix and differences in cell-to-cell junctions within each biofilm. (cdc.gov)
The GFI1B-D262N mutant functionally antagonizes the transcriptional activity of wild-type GFI1B. (lu.se)
In this study, we observed that discoidin domain receptors 1 and 2 (DDR1 and DDR2) exhibited high expression in GISTs, were associated with KIT, and enhanced the activation of both wild-type KIT and primary KIT mutants. (lu.se)
The presence of DDR1/2 also decreased the sensitivity of wild-type KIT or primary KIT mutants to imatinib, indicating a possible role for DDR1/2 in promoting GIST survival during KIT-targeted therapy. (lu.se)

Drugs could now be developed to target specifically the mutant forms of SPOP in endometrial cancer. (stjude.org)

Chinese hamster ovary cell mutants with temperature-sensitive defects in endocytosis. (rupress.org)
We have isolated three independent Chinese hamster ovary cell mutants (B3853, I223, and M311) with temperature-sensitive, pleiotropic defects in receptor-mediated endocytosis. (rupress.org)
In contrast, the nonpermissive temperature or restrictive temperature is the temperature at which the mutant phenotype is observed. (wikipedia.org)
Temperature-sensitive mutants are useful in biological research. (wikipedia.org)
An infection of an E. coli host cell by a bacteriophage (phage) T4 temperature sensitive (ts) conditionally lethal mutant at a high restrictive temperature generally leads to no phage growth. (wikipedia.org)
For example, growing a ts DNA repair mutant at an intermediate temperature will allow some progeny phage to be produced. (wikipedia.org)
Work with these mutants reveals that phytochrome is both a light and temperature sensor. (phys.org)
CE virus produced temperature sensitive mutants after persistent infection of Ae dorsalis cell culture (28). (cdc.gov)

A team of South Korean researchers have managed to extract embryonic stem (ES) cells from frozen human embryos. (progress.org.uk)
The researchers, based at the Maria Infertility Hospital in Seoul, have obtained seven ES cell lines from 20 embryos left over from infertility treatment. (progress.org.uk)

Dubbed the "triple mutant", B.1.617 actually has multiple mutations (ranging from 13-17 currently identified) that has led to scientists complaining about the media-given name, but three of these are believed to directly impact how dangerous the virus may be. (iflscience.com)
Officially, the variant is called B.1.617, but many people and media outlets (including NPR) have referred to the variant as the "double mutant. (nhpr.org)

These CHO cell mutants are an apparently relevant animal cell model for studies on the molecular bases and primary defects of human peroxisome-deficient diseases. (jci.org)
The present invention relates to methods for producing heterologous polypeptides in trichothecene-deficient filamentous fungal mutant cells. (justia.com)

European scientists aim to create a library of mouse embryonic stem cells that can be used to research human diseases. (progress.org.uk)
Woo Suk Hwang - head of the team that announced the creation of 11 patient-specific embryonic stem (ES) cell-lines recently - is planning to open an international stem cell bank in South Korea. (progress.org.uk)

Of the mutant lines established, about 75% exhibited a male infertility phenotype only, almost 10% exhibited female infertility only, and about 15% exhibited infertility of both sexes. (jax.org)

1990. J. Cell Biol. (jci.org)
J Cell Biol (1986) 103 (6): 2283-2297. (rupress.org)
The three mutants also displayed decreased sialylation of some secreted glycoproteins at 41 degrees C, reminiscent of the nonconditional mutant DTG1-5-4 that showed both endocytic and Golgi-associated defects (Robbins, A.R., C. Oliver, J.L. Bateman, S.S. Krag, C.J. Galloway, and I. Mellman, 1984, J. Cell Biol. (rupress.org)
J Cell Biol (1978) 76 (3): 729-747. (rupress.org)

The 10248 mutant CHO line lacks type II PKA activity and expresses a defective type I PKA. (aspetjournals.org)

While corrector-based treatment options are being extensively studied for CFTR-p.Phe508del, the efficacy of known correctors for other trafficking mutants remains largely unknown and has thus far not been studied in primary epithelial CF cells. (ersjournals.com)

People Are Talking About A 'Double Mutant' Variant In India. (nhpr.org)
One of the new variants circulating in India - and causing concern - is referred to as the "double mutant. (nhpr.org)
Why do people call this new variant the "double mutant? (nhpr.org)
But scientifically, the term "double mutant" makes no sense, Andersen says. (nhpr.org)
That all said, there's a reason why the term "double mutant" came about. (nhpr.org)

Niches maintain a finite pool of stem cells via restricted space and short-range signals. (lu.se)
Stem cells compete for limited niche resources, but the mechanisms regulating competition are poorly understood. (lu.se)
The mutated mouse stem cells created at EUCOMM will be used to study function. (progress.org.uk)
I wouldn't as an individual laboratory head necessarily have access to the expertise to produce those knock-out stem cells myself, so it really is literally like going to a library and pulling out something useful', said Professor Elizabeth Fisher, a neuroscientist at University College London. (progress.org.uk)
HTT silencing resulted in moderate effects on Wnt and MAPK pathways in both mouse and human HD induced pluripotent stem cells. (huntington.cl)

The mRNA expression profile of c-Src(mt)-expressing cells shows significant overlap with that of various primary human tumor samples, possibly reflecting elevated Src activity in some cancerous cells. (nih.gov)
Tumor cells are often found distant from the imaged mass. (medscape.com)

One of the new phenotypes was dominant in somatic cell hybrids, and the others were recessive. (elsevierpure.com)

Memory SARS-CoV-2-specific CD8 + T cell responses induced upon infection or COVID-19 vaccination have been important for protecting against severe COVID-19 disease while being largely robust against variants of concern (VOCs) observed so far. (mdpi.com)

Depicts a single human stem cell embedded within a porous hydrogel matrix (false colour). (progress.org.uk)
This proposed South Korean program, led by Woo Suk Hwang of Seoul National University, will store human ES cells, and will focus on their therapeutic uses. (progress.org.uk)
The bank would mean that all existing human ES cell-lines would be in one place, enabling doctors to identify. (progress.org.uk)
We studied correction of the folding mutants CFTR-p.Phe508del, -p.Ala455Glu (A455E) and -p.Asn1303Lys (N1303K) by VX-809 and 18 other correctors (C1-C18) using a functional CFTR assay in human intestinal CF organoids. (ersjournals.com)
The virus spike (red) is attaching to a human cell receptor (blue). (nhpr.org)
GFI1B-D262N promoted myelomonocytic versus erythroid output from primary human hematopoietic precursors and enhanced cell survival of both normal and MDS derived precursors. (lu.se)

Heme oxygenase (HO)-1 is a stress-inducible enzyme protecting cells against oxidative stress, and mechanisms have been considered to depend exclusively on its enzyme activity. (elsevierpure.com)

The study, published today in Molecular Cell , revealed previously unknown SPOP interfaces that harbor clusters of cancer-causing mutations. (stjude.org)
Somatic Cell and Molecular Genetics , 16 (3), 211-223. (elsevierpure.com)

Egg cell-specific promoter-controlled expression of 3×FLAG-NLS-zCas9-NLS. (addgene.org)
Moreover, decreased expression of C/EBPα-p42 by RNA interference in AML cells abrogated NK-mediated cytotoxicity. (bvsalud.org)

Histologically, medulloblasoma is divided into classic, desmoplastic/nodular (DN), and large cell/anaplastic (LCA). (medscape.com)

In children, sickle-shaped red blood cells often become trapped in the spleen, leading to a serious risk of death before the age of seven years from a sudden profound anaemia associated with rapid splenic enlargement or because lack of splenic function permits an overwhelming infection. (who.int)

The transfected parental and mutant cell lines were found to express ∼1 pmol/mg D 1 receptor binding activity ( B max ) as determined using [ 3 H]SCH-23390 binding assays. (aspetjournals.org)

These results table the SPI1-GFI1B transcriptional network as an important regulatory axis in AML as well as in the development of erythroid versus myelomonocytic cell fate. (lu.se)

At negative membrane potentials, TRPM4 allows Na + entry into the cell, leading to cellular membrane depolarization. (frontiersin.org)

Experimental work produced a wealth of information about the biochemical properties of mutant p53, its utility as a clinical marker and ways to target mutant p53 in tumours. (europa.eu)

90% down-regulation of D 1 receptors in the parental cell line but only a 50 and 30% decrease in the 10260 and 10248 cells, respectively. (aspetjournals.org)
Our results suggest that PKA significantly contributes to the desensitization and down-regulation of D 1 receptors in CHO cells and that type II PKA may be the more relevant isoform with respect to regulating D 1 receptor function. (aspetjournals.org)
NK group 2, member D (NKG2D) is one of the most critical activating receptors expressed by natural killer (NK) cells . (bvsalud.org)

The world's first national stem cell bank was opened in the UK yesterday. (progress.org.uk)

Induction of C/EBPα-p42 in the low endogenous CEBPA-expressing AML cell line increased the sensitivity to NK-induced lysis. (bvsalud.org)
Similar to primary KIT mutants, DDR1/2 can associate with and enhance the activation of secondary KIT mutants, further diminishing their sensitivity to imatinib. (lu.se)

Histology evaluation: Abnormal spermiogenesis with accumulation of meiotic division-phase spermatocytes and degenerating round spermatids present in multinucleated cell bodies (see 1). (jax.org)
Krabbe disease is also characterized by abnormal cells in the brain called globoid cells, which are large cells that usually have more than one nucleus . (medlineplus.gov)

Similarly, treatment of the cells with the membrane-permeable cAMP analog 8-(4-chlorophenylthio)-cAMP induced functional desensitization and down-regulation of the D 1 receptor, although it was not as great as that observed with agonist pretreatment. (aspetjournals.org)
Transient receptor potential melastatin member 4 (TRPM4), a non-selective cation channel, mediates cell membrane depolarization in immune response, insulin secretion, neurological disorders, and cancer. (frontiersin.org)

They allow the study of essential processes required for the survival of the cell or organism. (wikipedia.org)
There are, however, no firm data on the survival of patients with sickle-cell anaemia on the African continent. (who.int)

One of the implications of this work is that one day it might be possible to differentially target SPOP based upon its functional form within the cell. (stjude.org)

SCLC Small cell lung cancer . (bvsalud.org)
Julia K. Rotow, MD, provided potentially practice-changing updates from ESMO 2023, particularly in advanced non-small cell lung cancer (NSCLC). (medscape.com)
In advanced NSCLC, Dr Rotow highlighted the much-anticipated results in the setting of EGFR- mutant lung cancer. (medscape.com)

As with the agonist pretreatments, the 8-(4-chlorophenylthio)-induced responses were attenuated in the mutant cells with the 10248 line exhibiting the least desensitization/down-regulation. (aspetjournals.org)

The three PS1 mutants induced a significant reduction of the length of cell processes. (ox.ac.uk)

Chlamydomonas flagellar mutants lacking radial spokes and central tubules. (rupress.org)
Histology evaluation: Arrest of spermatogenesis during late pachytene stage of meiotic prophase (see 1), some seminiferous tubules have only spermatogonia and Sertoli cells present (see 1), some germ cells appear apoptotic (see 2). (jax.org)
Histology evaluation: Arrest of spermatogenesis during pachytene stage of meiotic prophase, some tubules are greatly depleted of germ cells (see 1). (jax.org)

We demonstrated previously that the mutant altered migratory and metastatic properties. (nih.gov)

Anatomy38

Organisms23

Diseases4

Chemicals and Drugs58

Analytical, Diagnostic and Therapeutic Techniques and Equipment46

Phenomena and Processes87

Disciplines and Occupations3

Information Science3

Health Care1

Tumors2

Gene22

Proteins10

Allele1

Genes16

Susceptibility3

Inhibition3

Drosophila3

Complementation3

Vitro2

Correlates3

Mutation5

Glycosylation3

Inhibitors3

Fibroblasts2

Protein14

Isolation1

Mice6

Proliferation1

Wild type22

Endometrial cancer1

Temperature8

Researchers2

1.6172

Deficient2

Embryonic2

Phenotype1

Biol4

Defective1

Epithelial1

Double mutant5

Stem Cells5

Tumor2

Recessive1

Variants1

Human6

Enzyme1

Molecular2

Expression2

Anaplastic1

Infection1

Assays1

Transcriptional1

Cellular1

Experimental1

Receptors3

World's1

Sensitivity2

Abnormal2

Receptor2

Survival2

Functional1

Lung3

Responses1

Processes1

Tubules3

Metastatic1