Defects gene mice knockout. Medical search. Frequent questions

Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. (jax.org)
Mice homozygous for a knock-out allele exhibit complete perinatal lethality, decreased fetal size, and ventricular septal defects. (jax.org)
This causes the genes to become homozygous (same strain) at nearly all the loci on the chromosomes. (uwm.edu)
Homozygous knockout mice for this gene exhibit heart development defects and perinatal lethality. (utsouthwestern.edu)
PHENOTYPE: Homozygous null mice exhibit cardiac developmental defects and die perinatally. (utsouthwestern.edu)
PHENOTYPE: Mice homozygous for a knock-out allele show increased body weight. (utsouthwestern.edu)
Mice homozygous for a gene-trap allele die shortly after implantation with defects in early embryogenesis. (utsouthwestern.edu)
Homozygous deletion in adult mice causes premature death, intestinal epithelium atrophy, and abnormal mitosis. (utsouthwestern.edu)
Homozygous mutations in either of these genes, in humans, lead to severe neuromuscular disease, with nephrotic syndrome seen in PDSS2 deficiency. (nih.gov)
A newer classification is based on genotype: Type A patients have homozygous mutations in the gene SLC3A1 and type B patients have homozygous mutations in SLC7A9 . (msdmanuals.com)

In addition, gene identification in patients permits us to identify naturally occurring animal models or create new transgenic or knockout animal models with retinal degeneration due to defects in the gene homologs. (berkeley.edu)
We studied hypocretin levels in knockout and transgenic mouse models with obesity, circadian gene mutations or monoaminergic defects. (elsevierpure.com)

germline knockout mice possess impaired physical and hair follicle developmental kinetics most readily observed within the pre-weaning period [14 15 On select genetic backgrounds these mice develop piebaldism (suggestive of defective melanocyte function) and symptoms analogous to Type II Waardenburg syndrome (characterized by hearing loss and skin/hair pigment anomalies) [16]. (bioinf.org)
Unlike both and [19 20 Our studies however additionally analyzed the loss of Snai3 in the context of a Snai2 deficient animal a germ line double knockout (DKO) which resulted in clear developmental abnormalities LY2603618 (IC-83) [20]. (bioinf.org)
The genetic basis of this condition remains largely unknown, as no developmental genes other than paired box gene 6 ( PAX6 ) are known to be implicated in sporadic bilateral ONA. (molvis.org)
Mistakes during this process, that is, if a wrong gene is active or inactive at the wrong place or at the wrong time, can lead to developmental defects. (mpg.de)
The most common method for investigating embryonic developmental disorders is to concentrate on a single organ system in the mouse and conduct gene knockout studies. (mpg.de)
Methods and Results We used tissue-specific knockout mouse models of Robo1/Robo2, Robo4, Slit2 andSlit3 and scored cardiac developmental defects in perinatal mice. (ox.ac.uk)
It is believed to arise due to developmental defects during embryogenesis, but the precise origin and cause of tumor is unknown. (lu.se)

all genes associated with this syndrome (ie, DKC1 , TERT, TERC, NOP10 ) encode proteins in the telomerase complex responsible for maintaining telomeres at the ends of chromosomes regarding shortening length, protection, and replication. (medscape.com)
The multifunctional regulator nuclear factor erythroid 2-related factor (Nrf2) is considered not only as a cytoprotective factor regulating the expression of genes coding for anti-oxidant, anti-inflammatory and detoxifying proteins, but it is also a powerful modulator of species longevity. (springer.com)
The major characteristics of Nrf2 are to some extent mimicked by Nrf2-dependent genes and their proteins including heme oxygenase-1 (HO-1), which besides removing toxic heme, produces biliverdin, iron ions and carbon monoxide. (springer.com)
The ank gene product is one of several cell membrane proteins, including ectonucleoside triphosphate pyrophosphohydrolase enzymes and alkaline phosphatase, that regulate extracellular inorganic pyrophosphate levels and thereby regulate mineralization. (biomedcentral.com)
Are defects in the IRS proteins responsible for type 2 diabetes? (biologywriter.com)
These genes encode proteins that together form a heterodimer responsible for cystine and dibasic amino acid transport in the proximal tubule. (msdmanuals.com)

A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. (jax.org)
Conditional knockout of Gli3 causes a significant larger brain size, which can be recovered by knockdown of miR-7. (frontiersin.org)
Disease manifestations originate specifically in glomerular podocytes, as renal disease is seen in Podocin/cre,Pdss2(loxP/loxP) knockout mice but not in conditional knockouts targeted to renal tubular epithelium, monocytes, or hepatocytes. (nih.gov)
Liver-conditional B6.Alb/cre,Pdss2(loxP/loxP) knockout mice have no overt disease despite demonstration that their livers have undetectable CoQ9 levels, impaired respiratory capacity, and significantly altered intermediary metabolism as evidenced by transcriptional profiling and amino acid quantitation. (nih.gov)

This antibody blocks RAGE signaling in vitro and in vivo, recapitulating the phenotype of Ager AHA/AHA mice. (elifesciences.org)
The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (jneurosci.org)

There are over 400 documented inbred strains of mice. (uwm.edu)
Two strains may be bred together to produce a mixture of the genes of each strain. (uwm.edu)
In particular, we have the examined retinal degeneration in the naturally arising rd mouse strains (defects in the b-subunit of phosphodiesterase). (berkeley.edu)
However, significant differences in one or both hypocretin peptides were observed between different mouse strains. (elsevierpure.com)

and was shown to be essential in the developing embryo for proper ventral-dorsal patterning leading to eventual mesoderm formation [10 11 Analogous to results in embryonic lethality due to gastrulation defects [12]. (bioinf.org)
Deletion of at the epiblast stage also resulted in embryonic lethality in this instance due to global defects in vascularization [13]. (bioinf.org)
1996). The retinoic acid-inducible AP-2 family members (AP-2α, AP-2β, AP-2δ, AP-2γ, and AP-2ε) are shown to be expressed in several embryonic areas such as the forebrain, face and limb buds during mouse embryogenesis (Chazaud et al. (preventiongenetics.com)
Scientists from Seattle and Berlin have published an atlas on mouse embryonic development. (mpg.de)
Junyue Cao, Malte Spielmann and their colleagues describe, which cell types differentiate between days 9.5 and 13.5 of mouse embryonic development, and how they transform into organs. (mpg.de)
Their project will focus on conducting a detailed phenotyping of existing embryonic lethal knockout mice with known genetic defects that result in hypothalamic and/or pituitary malformations. (sc.edu)

In the X-linked recessive form, the gene defect lies in the DKC1 gene (located at Xq28), which encodes for the protein dyskerin. (medscape.com)
Another gene implicated in DKC, TINF2 , encodes a key component of the protein shelterin, which plays a role in telomere homeostasis. (medscape.com)
The MTHFD1L gene encodes the mitochondrial monofunctional enzyme with proven 10-formyltetrahydrofolate synthetase activity. (dcu.ie)
Receptor for Advanced Glycation End-Products ( Ager gene) encodes RAGE, a transmembrane protein belonging to the immunoglobulin (Ig) superfamily of receptors. (elifesciences.org)
FUNCTION: This gene encodes a cell surface glycoprotein and member of the ADAM (a disintegrin and metalloproteinase) family of endopeptidases. (utsouthwestern.edu)
This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. (utsouthwestern.edu)
The gene affected encodes a SH2D1A protein consisting only of a SH2 domain and a short C-terminal tail [Sayos et al. (lu.se)

However, the expression pattern of the Bok gene varies among species. (wikipedia.org)
We found a significantly lower expression of key autophagy- (ATG-) related genes in primary AML as compared to healthy granulocytes, an increased autophagic activity during all- trans retinoic acid- (ATRA-) induced neutrophil differentiation, and an impaired AML differentiation upon inhibition of ATG3, ATG4D, and ATG5. (hindawi.com)
Low PU.1 expression in AML may account for low ATG gene expression in this disease. (hindawi.com)
GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
This unexpected finding suggests that by preserving the expression of RAGE protein (in a dominant-negative form), Ager AHA/AHA mouse might represent a cleaner genetic model to study physiological roles of RAGE in vivo compared to Ager −/− mice. (elifesciences.org)
They further validate the idea that this knock-in mouse, which preserves expression and binding of RAGE, may be a valuable model for studying this important molecule in disease pathogenesis. (elifesciences.org)
We also analyzed the relationships between MRPL13 expression levels and several factors, including diagnosis, prognosis, mutation, functional signaling pathways, immune infiltration, RNA modification, and the relationship with cuproptosis-related genes. (bvsalud.org)
Identifying similarities between patterns of differential gene expression provides an opportunity to identify similarities between the experimental and biological conditions that give rise to these gene expression alterations. (biomedcentral.com)
The growing volume of gene expression data in open data repositories such as the NCBI Gene Expression Omnibus (GEO) presents an opportunity to identify these gene expression similarities on a large scale across a diverse collection of datasets. (biomedcentral.com)
This allows openSESAME to identify perturbations of gene expression that are due to phenotypic attributes that may not have been described in the sample annotation included in the repository. (biomedcentral.com)
To demonstrate the utility of openSESAME, we used gene expression signatures of two biological perturbations to query a set of 75,164 human expression profiles that were generated using Affymetrix microarrays and deposited in GEO. (biomedcentral.com)
openSESAME is a tool for leveraging the growing body of publicly available microarray data to discover relationships between different biological states based on common patterns of differential gene expression. (biomedcentral.com)
These relationships may serve to generate hypotheses about the causes and consequences of specific patterns of observed differential gene expression. (biomedcentral.com)
Genome-wide gene expression microarrays have found widespread use because of their high throughput and ability to measure the expression of tens of thousands of genes simultaneously. (biomedcentral.com)
However, a challenge for scientists performing genome-wide gene expression microarray analysis has been using these data to generate hypotheses about biological processes responsible for the patterns of differential gene expression associated with a particular trait or experimental variable. (biomedcentral.com)
One approach to this problem is to create sets of genes with common biological characteristics, such as chromosomal location, biochemical function, or observed differential expression in some experimental condition, and then to determine whether the genes in these sets are coordinately induced or repressed. (biomedcentral.com)
The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. (utsouthwestern.edu)
Given the broad expression patterns of these genes, the question remains open which tissue-specific ligand-receptor interactions are important for the correct development of different cardiac structures. (ox.ac.uk)
It is a defect in the expression of ligands for selectins due to lack of enzymes required for expression of selectin ligands. (medscape.com)
This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
Berry intake changes hepatic gene expression and DNA methylation patterns associated with high-fat diet. (lu.se)

Knockout of Robo2 in either the whole heart, endocardium and its derivatives, or the neural crest in ubiquitous Robo1 knockout background resulted in ventricular septal defects. (ox.ac.uk)

FZD 3 and FZD 6 deficiency results in a severe midbrain morphogenesis defect. (guidetopharmacology.org)
Brain morphogenesis requires precise regulation of multiple genes to control specification of distinct neural progenitors (NPs) and neuronal production. (frontiersin.org)
Despite focusing on functional studies of correlatively pathogenic genes, less research has been done to investigate possibilities of their counter-regulatory genes as potential modulators of brain morphogenesis and therapeutic targets of malformation. (frontiersin.org)
1999). AP-2α knockout mice studies have shown that loss of AP-2α in multiple tissues in the craniofacial region leads to severe optic cup patterning defects and failure of optic stalk morphogenesis. (preventiongenetics.com)

Enlarged ventricles and septal abnormalities were also features of the mutant mouse brain. (jneurosci.org)

Congenital hypopituitarism (CH) is a common birth defect frequently associated with syndromic abnormalities in the central nervous system, ocular structures, face, and gonads. (sc.edu)
Genetic variants in ROBO1and ROBO4 have been linked to congenital heart defects in humans. (ox.ac.uk)

Fleck corneal dystrophy (FCD, Online Mendelian Inheritance in Man (OMIM) #121850) was first reported in 1957 by Francois and Neetens [ 9 ], and is one of the hereditary corneal dystrophies in which the causative genes have already been identified. (molvis.org)
For comprehensive investigation of the genetic heterogeneity of diseases with a wide range of causative genes, such as hearing loss, and to identify novel candidate genes, WES analysis overcomes the limitations of targeted analysis and is considerably more cost-effective than whole genome sequencing (WGS) analysis. (biomedcentral.com)

III:2) and in unaffected I:1, containing three genes: exocyst complex component 6 ( EXOC6 ), cytochrome p450, subfamily XXVIA, polypeptide 1 ( CYP26A1 ), and cytochrome p450, subfamily XXVIC, polypeptide 1 ( CYP26C1 ). (molvis.org)

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
Glucagon knockout NSG (GKO-NSG) mice have metabolic, liver and pancreatic phenotypes associated with glucagon-signalling deficits that revert after transplantation of human islets from non-diabetic donors. (nature.com)
Fig. 3: Human islet transplantation establishes a glucagon-signalling axis that corrects liver phenotypes in GKO-NSG mice. (nature.com)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)

Dysregulation of these genes results in severe brain malformation such as macrocephaly and microcephaly. (frontiersin.org)
Less severe birth defects disrupt only hypothalamic or pituitary development, causing hormone deficiencies that affect viability, growth, fertility, metabolism, and the stress response, and may require life-long care. (sc.edu)
ZAP-70 deficiency is a rare autosomal recessive form of severe combined immunodeficiency (SCID) caused by mutations in the gene coding for T cell receptor z-chain associated protein kinase [ Chan et al. (lu.se)
Mutations in the PIK3R1 gene encoding phosphatidylinositol 3-kinase (PI3-kinase) have been found to cause severe insulin resistance [Baynes et al. (lu.se)

Genetic association studies demonstrated that MTHFD1L polymorphisms are associated with coronary artery disease, Alzheimer's disease and neural tube defects (NTDs). (dcu.ie)

A method of correcting these defective genes (gene therapy) is being developed in animals with hopes that prevention or a cure for humans will result. (uwm.edu)
To date, more than 130 genes causing inherited retinopathies in humans have been identified. (berkeley.edu)
Gene identifications in humans have allowed us to examine the biochemical pathways in these diseases. (berkeley.edu)
Distinct insulins in humans and mice permit in vivo studies of human β-cell regulation after human islet transplantation in immunocompromised mice, whereas identical glucagon sequences prevent analogous in vivo measures of glucagon output from human α-cells. (nature.com)
These defects are recapitulated in mouse models with ubiquitous deletions of the Slit ligands or Robo receptors and include additional heart defects not currently linked to SLIT or ROBO mutations in humans. (ox.ac.uk)

They observed multiple defects which mainly focused on erythropoiesis [14]. (bioinf.org)
Hereditary Fanconi syndrome Fanconi syndrome consists of multiple defects in renal proximal tubular reabsorption, causing glucosuria, phosphaturia, generalized aminoaciduria, and bicarbonate wasting. (msdmanuals.com)

Development of functional human blood and immune systems in NOD/SCID/IL2 receptor ɣ chain null mice. (nature.com)
The gene family as a whole shows 26.3% overall amino acid identity, with the variation between the receptor subtypes being seen largely within the intracellular loops. (guidetopharmacology.org)
Compared to controls, only histamine receptor knockouts had lower hypocretin levels. (elsevierpure.com)
This was most pronounced in H1 receptor knockouts suggesting the existence of a positive feedback loop between hypocretin and histaminergic neurons. (elsevierpure.com)

Gene therapy has great potential for treating retinal diseases including glaucoma, age-related macular degeneration, and inherited photoreceptor diseases. (berkeley.edu)
To date, most gene therapies have targeted monogenic recessive retinal diseases and employed viral vectors to transfer a 'normal ' copy of the mutated gene to the affected cell. (berkeley.edu)
These animal models are the subject of study to determine the pathophysiological mechanisms whereby these gene defects lead to photoreceptor degeneration and hopefully will lead to pilot studies of novel therapies for retinal degeneration. (berkeley.edu)
In particular, for retinal gene therapy it would be highly advantageous to transduce a single cell type that spans the entire retina after an intravitreal injection of a gene delivery vehicle for the subsequent secretion of a general neuroprotective factor throughout the retina. (berkeley.edu)

Despite studies of the effect of individual pathogenic genes, the counter-balance between multiple factors in controlling brain size remains unclear. (frontiersin.org)
Whether miR-7, one of the microcephaly-pathogenic genes, could act as a potential modulator to remedy macrocephaly remains obscure. (frontiersin.org)
But pathogenic mutations in these three genes can only explain a small fraction of EOAD families. (oncotarget.com)
To detect pathogenic variants in multiple deafness genes, in addition to novel candidate genes associated with hearing loss, whole exome sequencing (WES), followed by analysis prioritizing genes categorized in four tiers, were applied. (biomedcentral.com)
Our findings demonstrate that four-tier assessment of WES data is efficient and can detect novel candidate genes associated with hearing loss, in addition to pathogenic variants of known deafness genes. (biomedcentral.com)
Using this strategy, we successfully detected candidate pathogenic variants in 11 previously reported deafness genes in 21 families, as well as eight single candidate deafness genes in 10 families. (biomedcentral.com)

To understand the physiological significance of HS-induced RAGE oligomerization in vivo, we generated RAGE knock-in mice ( Ager AHA/AHA ) by introducing point mutations to specifically disrupt HS-RAGE interaction. (elifesciences.org)
This paper explores the role of heparan sulfate in the oligomerization of RAGE and the role of oligomerization in vivo function using mouse knockout models. (elifesciences.org)
We suggest that GKO-NSG mice provide an unprecedented resource to investigate human α-cell regulation in vivo. (nature.com)
To complement the in vivo system of chick embryos, we employ patient omics data, single cell RNA sequencing, human and mouse embryos, human cancer cell cultures, human pluripotent stem cells, chick embryo neural crest-derived in vitro crestosphere cultures, and zebrafish and mouse in vivo models. (lu.se)

Knockdown of microRNA (miRNA) miR-7 can rescue abnormal brain morphology in Gli3 knockout mice by recovering progenitor specification, neuronal production and migration through a counter-balance of the Gli3 activity. (frontiersin.org)
Facial defects include cleft lip and/or palate (CL/P), pseudocleft or abnormal philtrum (Al-Dosari et al. (preventiongenetics.com)
The underlying molecular defect resulting in the abnormal calcification observed in ank/ank mice has been identified. (biomedcentral.com)
Phenotypically, ttw mice develop excess calcification of the ligaments of the axial skeleton, resulting in myelopathy and an abnormal gait. (biomedcentral.com)
1998]. XLP patients exhibit immune defects such as abnormal natural killer and T cell mediated cytotoxicity. (lu.se)

Embryos lacking E4F die at the peri-implantation stage, while in vitro-cultured E4F(-/-) blastocysts exhibit defects in mitotic progression, chromosomal missegregation, and increased apoptosis. (cnrs.fr)
Overview of Single Cell Combinatorial Indexing for labeling the transcriptome of single cells The cells of mouse embryos at day 9.5 to 13.5 were isolated and distributed into different wells of a microtiter plate. (mpg.de)
Together with researchers from Berlin, the American team used this method to study the activity of all cells from mouse embryos at the age of 9.5 to 13.5 days. (mpg.de)
In the current issue of the journal Nature , the scientists describe how the method has been improved and applied to mouse embryos in order to create an 'atlas' of gene activity during mouse organogenesis. (mpg.de)

TSC2 knockout mouse is generated by LysZ-cre system cross-targeting TSC2 gene with loxP sites (cre/+ mice). (medicalxpress.com)

Moreover, genome instability was attributed to impaired autophagy and several autophagy genes with tumor suppressor functions (e.g. (hindawi.com)
Disruption of arginase II alters prostate tumor formation in TRAMP mice. (uclahealth.org)

Glucagon hypersecretion by transplanted islets from donors with type 2 diabetes revealed islet-intrinsic defects. (nature.com)
RNA sequencing of single human islet cells reveals type 2 diabetes genes. (nature.com)
When the IRS genes are deliberately taken out of action in so-called "knockout" mice, type 2 diabetes results. (biologywriter.com)

Defects in the NOP10 gene were found in association with autosomal recessive DKC. (medscape.com)
Analysis of 270 families in the DKC registry found that mutations in dyskerin ( DKC1 ), TERT , and TERC only account for 64% of patients, with an additional 1% due to NOP10 , suggesting that other genes associated with this syndrome are, as yet, unidentified. (medscape.com)

Most recently we have developed a knockout mouse model of Usher syndrome type 3, which caused progressive blindness and deafness in patients. (berkeley.edu)
In FXS, the fragile X mental retardation 1 (FMR1) gene is silenced and the fragile X mental retardation protein (FMRP) is not expressed, resulting in the characteristic features of the syndrome. (nih.gov)
Noonan syndrome (NS) is caused by mutations in PTPN11 , a gene encoding the nonreceptor protein tyrosine phosphatase SHP2. (lu.se)

Cystinuria is an inherited defect of the renal tubules in which reabsorption of cystine (the homodimer of the amino acid cysteine ) is impaired, urinary excretion is increased, and cystine stones form in the urinary tract. (msdmanuals.com)
The primary defect results in diminished renal proximal tubular reabsorption of cystine and increased urinary cystine concentration. (msdmanuals.com)

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK) [Väliaho et al. (lu.se)

Via positional cloning, we show that mutations in a zebrafish LTCC encoding gene, cav1.3a , underlie the auditory-vestibular defects of gemini ( gem ) circler mutants. (jneurosci.org)
Levels of CoQ9 and CoQ10 in kidney homogenates from B6.Pdss2(kd/kd) mutants were significantly lower than those in B6 control mice. (nih.gov)
Caval vein and diaphragm defects observed in ubiquitous Slit3 mutants were recapitulated in the tissue-specific knockouts. (ox.ac.uk)

Recently we have generated a hematopoietic-specific deletion of via utilization of the deleter strain and a strain possessing a conditionally targeted gene. (bioinf.org)

Using human arginase deficiency, a defect in the urea cycle, as a model system, Grody and his colleagues are exploring, in close collaboration with the laboratory of Dr. Stephen Cederbaum, the molecular structure and tissue-specific regulation of the arginase genes in health and disease. (uclahealth.org)
Another reported type of leukocyte adhesion deficiency involves dysfunction in platelet aggregation in addition to a defect in leukocyte adhesion. (medscape.com)
1997]. Mutations in the STAT1 gene cause complete STAT1 deficiency. (lu.se)

Gene knockout and localization studies were also performed on PfNapS using transfection studies. (biomedcentral.com)

Genes responsible for hereditary hearing loss are highly heterogeneous. (biomedcentral.com)

B) Representative image showing defect in medullary erythropoiesis in bone marrow (BM) isolated from control (+/+) and cre/+ mice. (medicalxpress.com)

This disease is a defect in fucose metabolism (lack of fucosylation of the carbohydrate selectin ligands) that results in failure to express the ligand for E and P selectin, sialyl Lewis-X (CD15s) expressed on leukocytes and endothelial cells. (medscape.com)

In addition, a mutation in the DKC1 gene is also found on exon 15, revealing a duplication, which adds a lysine residue on a polylysine tract on the C-terminus. (medscape.com)
A heterozygous mutation was found on the conserved telomere maintenance component 1 gene ( CTC1 ). (medscape.com)
DNA was extracted from the blood and subjected to mutation analysis by sequencing of the PIKFYVE gene. (molvis.org)
Sequence analysis revealed that the patient has a heterozygous c.4166_4169delAAGT mutation located at exon 24 of the PIKFYVE gene that may cause p.Glu1389AspfsX16 flame-shift mutation, which has never before been reported for FCD. (molvis.org)
In this study, we report a case of FCD bearing a heterozygous flame-shift mutation within the phosphoinositide kinase, FYVE finger containing ( PIKFYVE ) gene. (molvis.org)
A paired box gene 6 ( PAX6 ) missense mutation, p.T391A, has been described in a patient with bilateral ONA, nystagmus, and normal anterior eye segments. (molvis.org)

encoded by Nfe2l2 gene) is a transcription factor responsible for the regulation of cellular redox balance and protective antioxidant and phase II detoxification responses in mammals [ 1 , 2 ]. (springer.com)
Fig. 5: Improved glucose and insulin regulation in transplanted GKO-NSG mice. (nature.com)
Age-dependent pancreatic gene regulation reveals mechanisms governing human β cell function. (nature.com)

Moreover, MRPL13 in pan-cancer is related to the cancer immune infiltration pattern, methylation level and cuproptosis-related genes. (bvsalud.org)

Further, according to Online Mendelian Inheritance in Man (OMIM), hundreds of genes are associated with syndromic hearing loss. (biomedcentral.com)

We now show that a presumed autoimmune kidney disease in mice with the missense Pdss2(kd/kd) genotype can be attributed to a mitochondrial CoQ biosynthetic defect. (nih.gov)

For recessive null diseases, gene replacement is an option. (berkeley.edu)

We developed a high-throughput enzyme immunoassay (EIA) to measure total brain hypocretin levels from large numbers of mice. (elsevierpure.com)

A) Schematic representation of the genetic background of cre/+ mice vs +/+ controls. (medicalxpress.com)

In addition to the mutations that directly effect telomere length, recent studies also indicate that a DKC diagnosis should not be based solely on the length of the telomere, but also the fact that there are defects in telomere replication and protection. (medscape.com)

The investment in training should be outweighed by the benefits observed with more reliable behavioral and physiological responses in the mice. (uwm.edu)
Discovering human diabetes-risk gene function with genetics and physiological assays. (nature.com)

Disrupted glucose homeostasis and skeletal-muscle-specific glucose uptake in an exocyst knockout mouse model. (nih.gov)

Click on a disease name to see all genes associated with that disease. (jax.org)
In persons with autosomal dominant DKC and in terc-/- knockout mice, genetic anticipation (ie, increasing severity and/or earlier disease presentation with each successive generation) has been reported. (medscape.com)
Investigation of the human folate gene MTHFD1L: polymorphisms and disease risk. (dcu.ie)
Minguzzi, Stefano (2013) Investigation of the human folate gene MTHFD1L: polymorphisms and disease risk. (dcu.ie)
The additional disease-causing genes have not yet been identified. (oncotarget.com)

They are used to study the diseases associated with defective genes. (uwm.edu)
These mice have deficiencies in their immune systems and thereby prove valuable in the study of immune diseases and cancer. (uwm.edu)
We find that gene therapy has vast potential for treating and potentially curing a number of inherited photoreceptor diseases. (berkeley.edu)

Another technique involves the removal or blocking instead of addition of a gene from the animal. (uwm.edu)

One naturally occurring genetic defect in mice results in an animal with no hair that is called a nude. (uwm.edu)

Bok (Bcl-2 related ovarian killer) is a protein-coding gene of the Bcl-2 family that is found in many invertebrates and vertebrates. (wikipedia.org)

Description: RNA profiling data sets generated by the Mouse ENCODE project. (nih.gov)

Organisms2

Diseases4

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes3

Homozygous10

Transgenic2

Developmental7

Proteins6

Conditional4

Phenotype2

Strains4

Embryonic6

Encodes7

Expression21

Ventricular1

Morphogenesis4

Septal1

Congenital2

Causative genes2

Exocyst complex component1

Phenotypes4

Severe4

Neural tube de1

Humans5

Multiple defects2

Receptor4

Retinal4

Pathogenic6

Vivo4

Abnormal5

Embryos4

LoxP1

Tumor2

Type 2 diabet3

NOP102

Syndrome3

Renal2

Mutations in the gene1

Mutants3

Strain1

Deficiency3

Localization1

Hereditary1

Erythropoiesis1

Metabolism1

Mutation6

Regulation3

Methylation1

OMIM1

Mitochondrial1

Recessive1

Enzyme1

Genetic background1

Telomere1

Physiological2

Glucose1

Disease5

Diseases3

Involves1

Results1

Protein-codi1

ENCODE1