Mutations protein gene dosage. Medical search. Frequent questions

In this study we have screened a series of 29 primary leiomyosarcomas for abnormalities of both the p53 gene and the MDM2 gene, which encodes a p53-associated protein. (nih.gov)
The gene, which is called MYBL2 , encodes a transcription factor that helps to control the cell division cycle. (elifesciences.org)
SNCA encodes α (alpha)-synuclein (PARK 1/PARK 4) which is a small, 140-amino-acid protein 8 abundant in Lewy bodies. (acnr.co.uk)
The myelin proteolipid protein gene (PLP1) encodes the most abundant protein found in mature myelin from the CNS. (uams.edu)
This gene encodes a large protein that functions as a GDP to GTP exchange factor. (cancerindex.org)
De novo mutations in POGZ , which encodes the chromatin regulator Pogo Transposable Element with ZNF Domain protein, are strongly associated with autism spectrum disorder (ASD). (biorxiv.org)
Receptor for Advanced Glycation End-Products ( Ager gene) encodes RAGE, a transmembrane protein belonging to the immunoglobulin (Ig) superfamily of receptors. (elifesciences.org)
PINK1 encodes a mitochondrially qualified serine/threonine kinase, whilst parkin encodes an E3 MEK162 ubiquitin-protein ligase. (dna-alkylating.com)
The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)

Our results show a remarkably low mutation frequency, with only a single somatic point mutation, a K277E mutation in the STK10 gene, being identified in a total of more than 15 megabases of sequence analyzed. (ox.ac.uk)

However, treatment developed using these new technologies may only be effective for specific genetic mutations eg. (acnr.co.uk)
During this cephalosporins (such as cefixime and ceftriaxone) were the time, however, the gonococcus acquired genetic mutations that only remaining antimicrobials recommended for treatment conferred increasing penicillin resistance, necessitating increas- of gonococcal infections. (cdc.gov)
Diseases and disorders can be associated with misspellings or genetic mutations. (bvsalud.org)

We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
DNA methylation is an epigenetic modification that plays an important role in gene regulation. (uni-wuerzburg.de)
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage. (figshare.com)
A signal transducing adaptor protein that contains a single SH2 DOMAIN and is essential for the regulation of SLAM FAMILY RECEPTORS in the immune response. (bvsalud.org)

Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. (bvsalud.org)
This study found that CSW loss-of-function mutations extended life span by interacting with components of the insulin signaling pathway and impairing AKT activity in adult flies. (sdbonline.org)

SSCP (single-strand conformation polymorphism) analysis and direct sequencing of polymerase chain reaction (PCR)-amplified DNA were used to establish that 6/29 tumours possessed point mutations of the p53 gene. (nih.gov)

This transgenic mouse model carries M233T/L235P knocked-in mutations in presenilin-1 and overexpresses mutated human beta-amyloid (Abeta) precursor protein. (uea.ac.uk)
Transgenic mice carrying a null mutation or extra copies of the gene demonstrate a variety of conditions, from late-onset demyelination and axonopathy, to severe early-onset dysmyelination. (uams.edu)
An agouti mutation lacking the basic domain induces yellow pigmentation but not obesity in transgenic mice. (jax.org)
Functional analysis of agouti mutations in transgenic mice indicate that the cysteine-rich C terminus, signal peptide, and glycosylation site are required for agouti activity in vivo. (jax.org)
To examine the functional significance of the agouti basic domain, the entire 29-aa region was deleted from the agouti cDNA, and the resulting mutation (agoutiDeltabasic) was expressed in transgenic mice under the control of the beta-actin promoter (BAPaDeltabasic). (jax.org)
Three independent lines of BAPaDeltabasic transgenic mice all developed some degree of yellow pigment in the fur, indicating that the agoutiDeltabasic protein was functional in vivo. (jax.org)
High levels of agoutiDeltabasic expression in relevant tissues exceeded the level of agouti expression in obese viable yellow mice, suggesting that suboptimal activity or synthesis of the agoutiDeltabasic protein, rather than insufficient RNA synthesis, accounts for the phenotype of the BAPaDeltabasic transgenic mice. (jax.org)

Bone morphogenetic protein 15 (BMP-15) is a protein that in humans is encoded by the BMP15 gene. (wikipedia.org)
Misregulation of the gene in humans can result in the X-linked dysmyelinating disorder Pelizaeus-Merzbacher disease (PMD) or spastic paraplegia type 2 (SPG2). (uams.edu)
As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

The BMP-15 gene is located on the X-chromosome and using Northern blot analysis BMP-15 mRNA is locally expressed within the ovaries in oocytes only after they have started to undergo the primary stages of development. (wikipedia.org)
A common deleted region (CDR) in both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) affects the long arm of chromosome 20 and has been predicted to harbor a tumor suppressor gene. (elifesciences.org)
Many individuals affected by these disorders possess a shortened form of chromosome 20 that lacks a number of genes. (elifesciences.org)
This deletion is only ever seen in one of their two copies of the chromosome-suggesting that at least some of these genes are essential for survival-but the identity of the gene(s) that are associated with the increased risk of myeloid malignancies is unknown. (elifesciences.org)
have uncovered a key tumor suppressor among those genes frequently lost on chromosome 20. (elifesciences.org)
This "coupling," according to Varma, is crucial because otherwise chromosomes get persistently detached from microtubule ends, which can lead to harmful cellular mutations or gene dosage problems brought about by chromosome gain or loss. (northwestern.edu)
In the current study, Varma's team developed a novel approach which involves attaching a degron, an amino acid sequence "tag," to the end of the desired proteins and then, using CRISPR genome editing, replacing the desired gene on the chromosome with copies of the same gene with the degron attached to it. (northwestern.edu)
Using this and other novel approaches, the investigators discovered that during chromosome segregation and mitosis, the protein Ska1 guides Cdt1 to the ends of the microtubules to bind to this structure, and then both these proteins join with Ndc80 at kinetochores - protein structures that connect chromosomes to microtubules - to form a larger complex that constitutes the central chromosome-microtubule coupling unit. (northwestern.edu)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)
Initial linkage studies demonstrate that the gene defect resides on the long arm of chromosome 12. (medscape.com)

used gene silencing techniques to reduce the expression of MYBL2 in mice and showed that this induced symptoms of myeloid malignancies in the animals. (elifesciences.org)
We profile chromatin accessibility and gene expression in Pogz −/− mice and find that POGZ promotes chromatin accessibility of candidate regulatory elements (REs) and the expression of clustered synaptic genes. (biorxiv.org)
Chronic antagonism of melanocortin receptors by the paracrine-acting agouti gene product induces both yellow fur and a maturity-onset obesity syndrome in mice that ubiquitously express wild-type agouti. (jax.org)
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 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)

Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
Noonan syndrome and related disorders are caused by mutations in genes encoding for proteins of the RAS-ERK1/2 signaling pathway, which affect development by enhanced ERK1/2 activity. (sdbonline.org)
Loss-of-function (LOF) mutations, including stop-gain, splice-site, and frameshift mutations, play a key role in the etiology of genetic disorders (Fig. 1 a). (biomedcentral.com)

[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)

In the early embryo, a myosin II-dependent contraction of the cortical meshwork asymmetrically distributes the highly conserved PDZ proteins PAR-3 and PAR-6, as well as an atypical protein kinase C (PKC-3), to the anterior. (biologists.com)
The PAR proteins include the PDZ domain-containing PAR-3 and PAR-6, the atypical protein kinase PKC-3, the serine/threonine kinase PAR-1 and, in nematodes, the putative ubiquitin E3 ligase PAR-2. (biologists.com)
Three-train L-LTP was also blocked by inhibitors of guanylyl cyclase or cGMP-dependent protein kinase (PKG). (jneurosci.org)
These results suggest that NO contributes to L-LTP by stimulating guanylyl cyclase and cGMP-dependent protein kinase, which acts in parallel with PKA to increase phosphorylation of the transcription factor CREB. (jneurosci.org)
kinase inhibitors for LRRK2 mutations. (acnr.co.uk)
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. (ox.ac.uk)
The protein kinase gene family is the most frequently mutated in human cancer. (ox.ac.uk)
Previous work has documented activating mutations in the KIT receptor tyrosine kinase in testicular germ-cell tumors (TGCT). (ox.ac.uk)
To investigate further the potential role of mutated protein kinases in the development of TGCT and to characterize the prevalence and patterns of point mutations in these tumors, we have sequenced the coding exons and splice junctions of the annotated protein kinase family of 518 genes in a series of seven seminomas and six nonseminomas. (ox.ac.uk)
Comparative genomic hybridization and LOH analysis using SNP arrays demonstrated that the 13 TGCTs mutationally screened through the 518 protein kinase genes were uniformly aneuploid with consistent chromosomal gains on 12p, 8q, 7, and X and losses on 13q, 18q, 11q, and 4q. (ox.ac.uk)
Our results do not provide evidence for a mutated protein kinase implicated in the development of TGCT other than KIT. (ox.ac.uk)
A fly-human cross-species comparison of the phosphoinositide-3-kinase (PI3K) interactome was conducted in a Drosophila S2R+ cell line and several NSCLC and human multiple myeloma cell lines to identify conserved interacting proteins to PI3K, a critical signaling regulator of the AKT pathway. (sdbonline.org)
Barlow A, de Graaff E, Pachnis V. Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. (medlineplus.gov)
Here we report a role for the phylogenetically ancient mitogen-activated protein kinase (MAPK) signalling pathway in mouse sex determination. (plos.org)
The byg mutation is an A to T transversion causing a premature stop codon in the gene encoding MAP3K4 (also known as MEKK4), a mitogen-activated protein kinase kinase kinase. (plos.org)
This mutant, which we called boygirl ( byg ), was shown to contain an early stop codon that disrupts the autosomal gene encoding MAP3K4, a component of the mitogen-activated protein kinase (MAPK) signaling pathway. (plos.org)

Most DAX1 mutations are deletions, nonsense, or frameshift mutations that markedly impair its transcriptional activity. (northwestern.edu)

3 hr, and is reduced by inhibitors of PKA and of protein or RNA synthesis. (jneurosci.org)
Conversely, either NO or cGMP analogs paired with one-train tetanization produced late-phase potentiation, and the cGMP-induced potentiation was blocked by inhibitors of protein or RNA synthesis and an inhibitor of PKG, but not by an inhibitor of PKA. (jneurosci.org)

These are frequently activated by fusion to other transcriptional proteins resulting in chimeric transcription factors. (stanford.edu)
We demonstrate here that GSK-3 maintains the MLL leukemia stem cell transcriptional program by promoting the conditional association of CREB and its coactivators TORC and CBP with homedomain protein MEIS1, a critical component of the MLL-subordinate program, which in turn facilitates HOX-mediated transcription and transformation. (stanford.edu)
This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)
Identification of transcription and processing signals of ribosomal genes of D. melanogaster. (cnr.it)
However, insertion of the Cre-recombinase cassette in the gene of interest can alter transcription, protein expression, or function, either directly, by modifying the landscape of the locus, or indirectly, due to the lack of genetic compensation or by indirect impairment of the non-targeted allele. (bvsalud.org)
Since the transcription factor Pax7 is specifically expressed in all muscle stem cells, tamoxifen-inducible Cre cassettes (CreERT2) have been inserted into this locus by different groups to allow targeted gene recombination. (bvsalud.org)
The disease is due to mutations in the transcription factor TBX5 , which is important in the development of both the heart and upper limbs. (medscape.com)
Molecular genetic studies reveal that the disease is caused by mutations that inactivate the transcription factor TBX5 . (medscape.com)

Patients and Design: We investigated the genetic basis of isolated mineralocorticoid deficiency in a patient who carries a unique missense mutation (W105C) in the amino-terminal region of DAX1. (northwestern.edu)
Conclusions: We describe the first missense mutation in the aminoterminus of DAX1 and conclude that mutations in this region may be partially compensated by redundant functional domains. (northwestern.edu)

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. (plos.org)

Sequencing of STK10 in an additional 40 TGCTs revealed no further mutations. (ox.ac.uk)

Both average methylation level and range of methylation variation depended on the gene locus, tissue type and/or developmental stage. (uni-wuerzburg.de)
It is concluded that CSW normally regulates life span and that mutations in SHP2 are expected to have critical effects throughout life by insulin-dependent mechanisms in addition to the well-known RAS-ERK1/2-dependent developmental alterations. (sdbonline.org)
A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)

However, the role of IL6 and circulating cell-free mtDNA in unaffected and affected individuals harbouring mutations in PRKN/PINK1 and idiopathic Parkinson's disease patients remain elusive. (nih.gov)
We detected (i) elevated IL6 levels in patients with biallelic PRKN/PINK1 mutations compared to healthy control subjects in a German cohort, supporting the concept of a role for inflammation in PRKN/PINK1-linked Parkinson's disease. (nih.gov)
In addition, the comparison of patients with biallelic and heterozygous mutations in PRKN/PINK1 suggests a gene dosage effect. (nih.gov)
ii) a correlation between IL6 levels and disease duration in carriers of PRKN/PINK1 mutations, while no such association was observed for idiopathic Parkinson's disease patients. (nih.gov)
iii) increased circulating cell-free mtDNA serum levels in both patients with biallelic or with heterozygous PRKN/PINK1 mutations compared to idiopathic Parkinson's disease, which is in line with previous findings in murine models. (nih.gov)
and (iv) that circulating cell-free mtDNA levels have good predictive potential to discriminate between idiopathic Parkinson's disease and Parkinson's disease linked to heterozygous PRKN/PINK1 mutations, providing functional evidence for a role of heterozygous mutations in PRKN or PINK1 as Parkinson's disease risk factor. (nih.gov)
In individuals carrying mutations in PRKN/PINK1, IL6 and circulating cell-free mtDNA levels may serve as markers of Parkinson's disease state and progression, respectively. (nih.gov)
Current function in flies and vertebrates indicates that two of the genes concerned in familial forms of PD, PINK1 and parkin, act in a common pathway to regulate mitochondrial morphology [six]. (dna-alkylating.com)
In Drosophila, loss-of-perform mutations in PINK1 and parkin outcome in enlarged and swollen mitochondria and degeneration of flight muscle, sperm and dopaminergic neurons [nine,10,eleven,twelve,13,14]. (dna-alkylating.com)

Two breeds of sheep, Inverdale and Hanna, are naturally heterozygous carriers of point mutations in the BMP-15 gene. (wikipedia.org)

This is currently best expressed in the Ras "sweet-spot" model that suggests that Ras dosage (expression and signaling strength imparted by specific mutations) will be a major factor in influencing the availability of individual Ras family members to engage cancer pathways [ 4 ]. (nature.com)
SMN was an essential protein in all cell type and was reported to play important roles in multiple fundamental cellular homeostatic pathways. (bvsalud.org)
What pathways are this gene/protein implicaed in? (cancerindex.org)
We then conducted a comprehensive transcriptome analysis in mouse embryos to identify genes and pathways whose expression correlates with the amount of ELP1. (figshare.com)
Increasingly applied to identify mutations conferring antimicrobial resistance (AMR), disease outbreaks, and pathways of disease spread, whole genome sequencing (WGS)the process of determining the complete DNA sequence of an organisms genome at a single timehas emerged as a powerful tool for public health. (cdc.gov)

There is instability at the ends of spindle microtubules in that tubulin protein monomers are being added and removed constantly, so it's not a static structure, and then you need the chromosomes to attach to that dynamic structure. (northwestern.edu)
Previous work has established the protein Ndc80 as essential for chromosomes to attach to microtubules and two additional proteins - Cdt1 and Ska1 - separately help Ndc80 bind, or "couple," to the ends of the microtubules. (northwestern.edu)

The sequence of this gene is defined by 16 cDNA clones and 18 elements defined by RNA-seq, some from mixed (seen 7 times), embryo (5), l2 (once). (nih.gov)
Proteins supported by a single continuous cDNA sequence lead to underlining the name/ending of the variant. (nih.gov)
The rationale behind these prediction methods is that essential genes, with minimal inter-individual variation, are subject to purifying selection in order to maintain their sequence in the population, as alterations would lead to reduced fitness. (biomedcentral.com)
A gene variant is a change in a DNA sequence that is different from the expected DNA sequence. (cdc.gov)

However, little is known about the effect of gas cooking on bronchial responsiveness and on how this relationship may be modified by variants in the genes GSTM1 , GSTT1 and GSTP1 , which influence antioxidant defences. (bmj.com)
Variants (also known as mutations) in the EDNRB gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. (medlineplus.gov)
Although Hirschsprung disease is a feature of another condition called Waardenburg syndrome type IV (described below), EDNRB gene variants can also cause Hirschsprung disease in people without Waardenburg syndrome. (medlineplus.gov)
People with a variant in one of the two copies of the EDNRB gene tend to develop Hirschsprung disease, while people with variants in both copies of the gene usually develop Waardenburg syndrome type IV. (medlineplus.gov)
Most of these variants change single DNA building blocks (nucleotides) in the gene. (medlineplus.gov)
Variants in the EDNRB gene have been identified in people with Waardenburg syndrome type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). (medlineplus.gov)
Variants in the EDNRB gene disrupt the normal function of endothelin receptor type B or lead to the production of an abnormally small, nonfunctional version of the protein. (medlineplus.gov)
Specifically, a long gene typically has a large expected number of LOF variants under a neutral mutation model. (biomedcentral.com)
UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)
It is important to know that there are other extremely rare MTHFR gene variants not discussed here. (cdc.gov)
These gene variants may have significant effects on your health. (cdc.gov)
Talk to your doctor or a genetic counselor if you have concerns about what having one of these extremely rare MTHFR gene variants means for your health care. (cdc.gov)

Sheep carrying homozygous alleles for the Inverdale and Hanna BMP-15 mutations are infertile, as they have streak ovaries and the primary stage of folliculogenesis is inhibited. (wikipedia.org)
Our work to generate a phenotypic mouse model for FD headed to the discovery that homozygous deletion of the mouse Elp1 gene leads to embryonic lethality prior to mid-gestation. (figshare.com)

In 1997, the first mutation linked to autosomal dominant monogenic PD was reported by Polymeropulous. (acnr.co.uk)
The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)

Scope includes mutations and abnormal protein expression. (cancerindex.org)

Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)

In addition, heterozygote mutations in certain 'recessive' genes have been associated with late onset disease, possibly because of partial expression of the corresponding protein. (acnr.co.uk)
Using a forward genetic screen, we identified the recessive boygirl ( byg ) mutation. (plos.org)

These point mutations result in higher ovulation rates and larger litter sizes than sheep strains with a wildtype BMP-15 genotype. (wikipedia.org)
Day 0 parasites in the recrudescent isolate, with Y268S or Y268N and day 28 isolates contained the same majority genotype, cytochrome b mutations ( 2-10 ). (cdc.gov)
We have developed a novel algorithm (PVP) which augments existing strategies by using the similarity of the patients phenotype to known phenotype-genotype data in human and model organism databases to further rank potential candidate genes. (plos.org)
A genotype is the combination of the set of genes responsible for a particular trait. (cdc.gov)
The The gene responsible for FMF is desigi clinical profile, course, genotype, treatment nated MEFV and was recently cloned [ 8 ]. (who.int)

In vivo dissection of Otx1 and Otx2 roles in brain development by using reciprocal knock-in mouse models: definition of extended functional equivalence between OTX1 and OTX2 proteins and the relevance of the Otx1 and Otx2 differential transcriptional control. (cnr.it)
Role of Otx1 and Otx2 in brain evolution: functional equivalence between the invertebrate Orthodenticle and the murine OTX1 and OTX2 gene products supports a conserved genetic program of brain development between insects and mammals. (cnr.it)
These findings implicate a functional role for the agouti basic domain in vivo, possibly influencing the biogenesis of secreted agouti protein or modulating protein-protein interactions that contribute to effective antagonism of melanocortin receptors. (jax.org)
CONCLUSIONS: These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion. (ox.ac.uk)
Motivated by the premise that population and functional genomic data may provide complementary evidence for gene essentiality, here we present an evolution-based deep learning model, DeepLOF, to predict essential genes in an unsupervised manner. (biomedcentral.com)
Unlike previous population genetic methods, DeepLOF utilizes a novel deep learning framework to integrate both population and functional genomic data, allowing us to pinpoint short essential genes that can hardly be predicted from population genomic data alone. (biomedcentral.com)
Our method integrates a population genomics-based approach with a functional genomics approach, providing unparalleled ability to predict LOF intolerance, particularly in short genes. (biomedcentral.com)

We are studying the effects and consequences of protein fusion on the transcriptional and transforming activities of these proteins using in vitro and animal models. (stanford.edu)
In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)

Specifically, the CGAS (cyclic GMP-AMP synthase)-STING (stimulator of interferon genes) pathway mitigates activation of the innate immune system, quantifiable as increased interleukin-6 (IL6) levels. (nih.gov)
To verify the microarray account and show induction of UPR in the NOTCH1-mutant RPMI-8402 cell series, we supervised mRNA and protein readouts of the pathway detecting elevated degrees of and mRNA aswell as spliced XBP1 and phosphorylation of EIF2 (Supplementary Fig. 4). (ees2010prague.org)
This study identified that the protein most commonly affected in Noonan syndrome, the phosphatase SHP2, known in Drosophila as corkscrew (CSW) , controls life span, triglyceride levels, and metabolism without affecting ERK signaling pathway. (sdbonline.org)

This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones. (nih.gov)
At least three papers last summer dealt with the advantage of new technologies used to discover the extent to which these polymorphic rearrangements are duplications of genes found elsewhere in the genome. (the-scientist.com)
The most potent endogenous key is CCL3L1, a chemokine whose gene is found anywhere from zero to at least 14 times in a normal diploid genome. (the-scientist.com)
Traditional linkage analysis, gene cloning and Genome Wide Association Studies (GWAS) have identified several loci and genes associated with monogenic PD. (acnr.co.uk)
While the existing methods are highly predictive of essential genes of long length, they have limited power in pinpointing short essential genes due to the sparsity of polymorphisms in the human genome. (biomedcentral.com)

If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)
However, overexpression of a wild-type allele did not affect life span, showing a specific effect of the gain-of-function allele independently of a gene dosage effect. (sdbonline.org)

Southern analysis of tumour DNA revealed that 2/29 tumours demonstrated amplification of the MDM2 gene. (nih.gov)

We further demonstrate that POGZ forms a nuclear complex and co-occupies loci with HP1γ and ADNP, another high-confidence ASD risk gene. (biorxiv.org)
Moreover, they demonstrate that the general prevalence of point mutations in TGCT is low, in contrast to the high frequency of copy number changes. (ox.ac.uk)
Using in vitro studies of DAX1 expression and function in transfected cells, we demonstrate that the mutant DAX1 protein exhibits mild loss of function, whether studied for genes it represses or for genes it activates. (northwestern.edu)

In addition to revealing a new tumor suppressor gene and its contribution to myeloid malignancies, the study by Heinrichs et al. (elifesciences.org)
highlights the importance of gene dosage in mediating the effects of tumor suppressors. (elifesciences.org)
One example is the conserved Drosophila tumor-suppressor protein Lethal giant larvae (Lgl). (biologists.com)
In this study, we performed quantitative methylation analyses of six differentially methylated imprinted genes (H19, MEG3, LIT1, NESP55, PEG3 and SNRPN), one hypermethylated pluripotency gene (OCT4) and one hypomethylated tumor suppressor gene (APC) in chorionic villus, fetal and adult cortex, and adult blood samples. (uni-wuerzburg.de)
It is therefore conceivable that the inhibition of the function of these genes may specifically affect the proliferation and survival of brain tumor cells. (cancerindex.org)
Mechanistically, EPB41L4A-AS2, acting at least in part as a tumor suppressor, upregulated tumor suppressor gene expression. (cancerindex.org)

Isolation and expression analysis in murine embryos of Dlx5 and Dlx6, two murine homologues of the Drosophila Distal-less gene. (cnr.it)
These data revealed an unexpected direct binding of Corkscrew, the Drosophila ortholog of the non-receptor protein tyrosine phosphatase type II (SHP2) to the Pi3k21B (p60) regulatory subunit of PI3K (p50/p85 human ortholog) but no association with Pi3k92e , the human ortholog of the p110 catalytic subunit. (sdbonline.org)
The p85-SHP2 association was validated in human cell lines, and formed a ternary regulatory complex with GRB2-associated-binding protein 2 (human GAB2 but not Drosophila Dos ). (sdbonline.org)
In Drosophila disease models, this study found both SHP2 mutations from human patients and corkscrew (csw) homolog LoF/GoF elevate glutamatergic transmission. (sdbonline.org)

Click on any transcript to open the specific mRNA page, to see the exact cDNA clone support and eventual SNPs and to get details on tissues, sequences, mRNA and protein annotations. (nih.gov)
NVS-ZP7C1 treatment of HPB-ALL cells, dosage inhibited mRNA appearance from the well-characterized Notch focus on genes dependently, and (Fig. 1b). (ees2010prague.org)
This mutation reduces per mRNA but not tim mRNA abundance. (elsevierpure.com)

Further, gene length analysis of the differentially expressed genes showed that the loss of Elp1 mainly impacts the expression of long genes and that by gradually restoring Elongator their expression is progressively rescued. (figshare.com)

Expression analysis of several Hox genes in human embryos. (cnr.it)
Isolation and expression analysis both in invertebrate and vertebrate embryos of a new homeobox containing gene named Orthopedia (Otp). (cnr.it)

Differential dosage-dependent roles of OTX2 in specifying regional identities and neuronal cell types during brain development. (cnr.it)
Single-cell RNA-sequencing of hippocampal and neocortical cells revealed widespread, yet modest, dysregulation of gene expression across mutant neuronal subtypes. (bvsalud.org)
We postulate that reduced POGZ dosage disrupts cortical function through alterations in the POGZ-ADNP balance which modifies neuronal gene expression. (biorxiv.org)

The 3 spliced mRNAs putatively encode good proteins , altogether 3 different isoforms (1 complete, 2 partial ), some containing a coiled coil stretch [Psort2] . (nih.gov)

Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively. (sdbonline.org)

However, the mutations' effects throughout adult life are unclear. (sdbonline.org)

Amyloidosis Amyloidosis is any of a group of disparate conditions characterized by extracellular deposition of insoluble fibrils composed of misaggregated proteins. (msdmanuals.com)
Pathological hallmarks of AD include the presence of hyperphosphorylated tau and amyloid protein deposition. (frontiersin.org)
The frameshift mutation results in the formation of a truncated protein which cannot fold properly, promoting aggregation, and subsequent deposition in tubular cells. (medscape.com)

Finally, direct measurement of mutant versus wildtype KRAS protein abundance revealed a frequent imbalance that may suggest additional non-gene duplication mechanisms for optimizing oncogenic Ras dosage. (nature.com)
76% of Ras-mutant cancer patients harbor KRAS mutations versus only 7% with HRAS mutations [ 1 ]. (nature.com)
To help expand characterize the system of action of the compounds, microarray evaluation was utilized to evaluate gene expression information of mutant and outrageous type Notch T-ALL cell lines treated with NVS-ZP7C3. (ees2010prague.org)
Expression analysis of mutant XY gonads at the same stage also reveals a dramatic reduction in Sox9 and, crucially, Sry at the transcript and protein levels. (plos.org)

CONTEXT: Acid labile subunit (ALS) deficiency, caused by IGFALS mutations, is a subtype of primary IGF-I deficiency (PIGFD) and has been associated with insulin resistance (IR) and osteopenia. (ox.ac.uk)
Mild DAX1 mutations may be a cause of isolated mineralocorticoid deficiency. (northwestern.edu)

Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)

The contribution of CCL3L1 gene dosage could be teased apart from that of the noncopy-dependent variant of CCR5, already known to confer some resistance to HIV infection and HIV progression. (the-scientist.com)
FMF mutations are gain-of-function, that is, they confer new or enhanced activity on a protein, with a gene dosage effect (ie, more copies of the abnormal gene convey a greater effect). (msdmanuals.com)

Notch is certainly synthesized in the ER and it is cleaved with a furin-like convertase in the beliefs for natural procedure with unfolded protein response and asparagine N-linked glycosylation procedures highlighted. (ees2010prague.org)

Validation experiments with knockdown of GAB2 and Far-Western blots proved the direct interaction of SHP2 with p85, independent of adaptor proteins and transfected FLAG-p85 provided evidence that SHP2 binding on p85 occurred on the SH2 domains. (sdbonline.org)

Anatomy15

Organisms14

Diseases14

Chemicals and Drugs64

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Psychiatry and Psychology1

Phenomena and Processes130

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science4

Named Groups1

Health Care4

Encodes9

Point Mutation1

Genetic mutations3

Regulation5

Loss-of-function mutati2

Polymerase Chain Re1

Transgenic7

Humans3

Chromosome10

Mice5

Disorders3

Germline1

Kinase16

Frameshift mutations1

Inhibitors2

Transcription8

Missense mutation2

Novo mutations1

Further mutations1

Developmental3

PINK19

Heterozygous carriers1

Pathways5

Chromosomes2

Sequence4

Variants12

Homozygous2

Autosomal3

Abnormal protein1

Premature stop1

Recessive2

Genotype5

Functional7

Transcriptional2

Pathway3

Genome5

Allele2

Amplification1

Demonstrate3

Tumor6

Drosophila4

MRNA3

Differentially1

Embryos2

Neuronal3

Isoforms1

Tyrosine phosphatase1

Adult1

Deposition3

Mutant4

Deficiency2

Encode1

Confer2

Glycosylation1

Adaptor1