Mutation analysis gene dosage. Medical search. Frequent questions

qBiomarker Somatic Mutation PCR Arrays are intended for molecular biology applications. (qiagen.com)
qBiomarker Somatic Mutation PCR Arrays are translational research tools that allow rapid and accurate profiling of the somatic mutation status for important genes related to a biological pathway or disease. (qiagen.com)
Mutations are selected from comprehensive somatic mutation databases (e.g. (qiagen.com)
By combining allele-specific amplification and hydrolysis probe detection, qBiomarker Somatic Mutation real-time PCR assays have been developed which can detect as few as 1% somatic mutations in the background of wild-type genomic DNA. (qiagen.com)
qBiomarker Somatic Mutation PCR Arrays are available in 96-well and 384-well plates and are used to detect mutations related to a disease state or pathway, plus gene copy number controls for normalization. (qiagen.com)
Each qBiomarker Somatic Mutation PCR Array also includes control elements for general PCR performance. (qiagen.com)
In this work, we integrated somatic mutations, transcription, (hydroxy)methylation, histone modifications, and chromatin accessibility to reveal the complexity of the epigenetic landscape, the simultaneous presence of multiple regulatory mechanisms affecting drivers of leukemogenesis, and remodeling of the enhancer landscape as an important driver of intratumoral heterogeneity. (nature.com)
Both disorders are characterised by recurring truncating somatic mutations of the GATA1 gene, which are considered key pathogenetic events. (smj.org.sg)
8 ) An additional shared, critical pathogenetic event involves the acquisition of characteristic somatic mutations in the GATA1 gene. (smj.org.sg)
10 ) The mechanistic basis for somatic GATA1 mutations and the additional molecular events that determine progression from TAM to ML-DS are the focus of intense research. (smj.org.sg)
This observational study attempts to characterise, for the first time, to our knowledge, the frequency and nature of somatic GATA1 mutations in DS children with TAM and ML-DS, encountered consecutively over a period of five years at a national paediatric oncology referral centre in Malaysia. (smj.org.sg)
Genetic analysis of the leukaemic clone revealed somatic trisomy 21 and a truncating GATA1 mutation. (embl.de)
[ 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)

Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)
Xq28 appears to be an unstable region of the human genome and genomic rearrangements are recognised as major causes of two single gene defects, haemophilia A and incontinentia pigmenti, which map within Xq28. (bmj.com)
Gene and genome duplications are the primary source of new genes and have played a pivotal role in the evolution of genomic and organismal complexity [ 1 - 4 ]. (biomedcentral.com)
However in recent years with the development of epigenesis, genomic imprinting and the horizontal transferences of the genes, Lamarck's ideas have resurfaced. (intechopen.com)
Genomic profiling also identifies genes associated with poor outcome in cases without molecular aberrations and specific genes that may be new therapeutic targets in adult ALL. (aacrjournals.org)
The low frequency of GATA1 mutations in ML-DS patients is unusual and potentially indicates distinctive genomic events in our patient cohort. (smj.org.sg)
The analysis of the patient's normal blood cell DNA on a genomic single nucleotide polymorphism (SNP) array revealed a de novo germ line 2·58 Mb 15q24 microdeletion including 41 known genes encompassing the tumour suppressor PML. (embl.de)
Genomic context analysis of proteins encoded by genes that are included in the microdeletion, chromosome 21-encoded proteins and GATA1 suggests that the microdeletion may trigger leukaemogenesis by disturbing the balance of a hypothetical regulatory network of normal megakaryopoiesis involving PML, SUMO3 and GATA1. (embl.de)
Characterization of SARS-CoV-2 infection clusters based on integrated genomic surveillance, outbreak analysis and contact tracing in an urban setting. (embl.de)
[ 9 ] Genomic sequencing for the LAMP2 gene revealed mutations in 2 of 197 (1%) patients with HCM. (medscape.com)

To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
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)
We performed plasma progranulin dosage, GRN gene sequencing, and haplotype sharing study, analyzing 10 short tandem repeat markers, spanning a region of 11.08 Mb flanking GRN on chromosome 17q21. (cirn-na.com)
Sequencing and analysis of a 35.4 kb region on the right [corrected] arm of chromosome IV from Saccharomyces cerevisiae reveal 23 open reading frames. (ymdb.ca)
Fundamental to both disorders is the gene-dosage imbalance of the human chromosome 21. (smj.org.sg)
9 ) The gene, located on chromosome X ( Xp11.23 ), encodes a key haematopoietic transcription factor involved in erythroid and megakaryocyte differentiation. (smj.org.sg)
Chromosome 21 gene dosage effects and truncating mutations of the X-chromosomal transcription factor GATA1 synergize to trigger TMD and AMKL in most patients. (embl.de)
Varying organisms have different total gene counts on a single chromosome. (javatpoint.com)
On a single, 1 mm long chromosome, the E. coli bacteria have more than 3000 genes. (javatpoint.com)
Chromosome aberrations have long been studied in an effort to identify susceptibility genes for schizophrenia. (biomedcentral.com)
Meta-analysis of genome scans for bipolar disorder and schizophrenia have also identified chromosome 22q11-13 as one of the strongest linkage regions for both syndromes [ 16 ]. (biomedcentral.com)
Several sexually dimorphic phenotypes correlate with sex-chromosome dosage rather than with phenotypic sex. (duke.edu)
New research suggests that sex chromosome dimorphism helps to regulate gene silencing. (duke.edu)

Single-gene disorders (SGD) are present in approximately 1% of births. (fmfindia.in)
NIPT-SGD is feasible for a broad range of monogenic disorders and is most straightforward when applied for the detection of dominant conditions with a high de-novo rate OR for paternally inherited dominant gene variants. (fmfindia.in)
The increasing knowledge about the biology of diseases has shown that several genetic mutations are involved in the progression of disease including cancer, autoimmune disorders, and others. (medgadget.com)
Currently, more than 20 gene-therapy drugs/products have been approved in the clinic which is indicated for wide range of cancer, blood disorders, and autoimmune diseases. (medgadget.com)
With the growing incidence of cancer and other targeted diseases such as genetic disorders, the adoption of gene therapy has significantly increased. (medgadget.com)
The SSPsyGene Consortium aims to produce a systematic annotation of basic neurobiological function of genes associated with risk for neurodevelopmental and psychiatric disorders (NPDs). (nih.gov)
Gene mutations cause some disorders, including sickle-cell anemia and Huntington's disease. (javatpoint.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)
Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. (e-kjgm.org)
However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. (e-kjgm.org)
We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. (e-kjgm.org)
The traditional paradigm monogenic disorders, also known as Mendelian disorders, are characterized by the presence of mutations in a single gene that contribute to the development of a specific phenotype or disease. (e-kjgm.org)
Traditionally, monogenic disorders have been considered as relatively straightforward genetic conditions, where a mutation in a single gene is sufficient to cause the observed phenotype. (e-kjgm.org)
While monogenic disorders were traditionally attributed to mutations in a single gene, there is increasing evidence to suggest that the phenotypic expression of some apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. (e-kjgm.org)
Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
Diseases and disorders can be associated with misspellings or genetic mutations. (bvsalud.org)

Due to the high rates of origin of spontaneous duplications and deletions, copy-number changes containing the same genes arose readily in independent populations. (biomedcentral.com)
Gene duplications are believed to facilitate evolutionary innovation. (pubchase.com)
However, gene duplications repeatedly spawned daughter genes in which mutations optimized either isomaltase or maltase activity. (pubchase.com)
Recessively inherited deletions/duplications and point mutations in the parkin gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the PINK1 gene are found to explain early-onset parkinsonism. (biomedcentral.com)

Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)
The most common cause of HCM is now known to be one of over 200 possible mutations in at least 10 genes that involve sarcomeric proteins. (medscape.com)
Forms of HCM without evidence of mutations in sarcomeric proteins have also been identified. (medscape.com)
The DNA strands that comprise each gene are blueprints for producing specific proteins. (javatpoint.com)
Gene changes can also result in proteins that are improperly produced and unable to carry out their intended functions. (javatpoint.com)
Proteins produced from GENES that have acquired MUTATIONS. (bvsalud.org)
By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)
In chapter 2, by using CRISPR/Cas9 gene editing, genetic analysis and biochemical assays, I identified the differential pairings of typical NLR receptor SOC3 with atypical NLR proteins CHS1 or TN2 to guard the homeostasis of the E3 ligase SAUL1. (ubc.ca)

Exon dosage analysis confirmed the recessive pattern of inheritance with heterozygous deletions segregating in healthy family members. (biomedcentral.com)
All identified mutations were located in exon 2 and the majority were sequence-terminating insertions or deletions (66.7%), including several hitherto unreported mutations (12 out of 15). (smj.org.sg)

The Cancer Genome Atlas project has analysed messenger RNA expression, microRNA expression, promoter methylation and DNA copy number in 489 high-grade serous ovarian adenocarcinomas and the DNA sequences of exons from coding genes in 316 of these tumours. (nih.gov)
An exon dosage analysis was performed for all exons in both genes. (biomedcentral.com)
All 5 exons of PACRG were sequenced to search for splice site and coding sequence point mutations. (fdocuments.net)
These mutations, involving exons 2 or 3 of the GATA1 gene, result in synthesis of an aberrant truncated isoform (termed short GATA1 or GATA1s ) that is putatively oncogenic. (smj.org.sg)

and promoter methylation events involving 168 genes. (nih.gov)
Analyses delineated four ovarian cancer transcriptional subtypes, three microRNA subtypes, four promoter methylation subtypes and a transcriptional signature associated with survival duration, and shed new light on the impact that tumours with BRCA1/2 (BRCA1 or BRCA2) and CCNE1 aberrations have on survival. (nih.gov)
Genetic and epigenetic profiling of glioblastomas has provided a comprehensive list of altered cancer genes of which only O6- methylguanine-methyltransferase (MGMT) methylation is used thus far as a predictive marker in a clinical setting. (eur.nl)
Multivariate analyses revealed that mutations in isocitrate dehydrogenase 1 (IDH1), promoter methylation of MGMT, irradiation dosage, and Karnofsky Performance Status (KFS) were independent prognostic factors. (eur.nl)
This 2-gene predictor was an independent prognostic factor and performed significantly better in predicting survival than either IDH1 mutations or MGMT methylation alone. (eur.nl)
Molecular testing of BWS involves MS-MLPA as the primary technique for detecting epigenetic and genetic variations at 11p15 including microdeletions, microduplications, alterations in gene dosage, and DNA methylation at two imprinting centers as well as UPD, followed by other techniques such as Karyotype for chromosomal rearrangements, genetic sequencing for point mutation analysis. (fmfindia.in)
A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)
We also show that SpCas9-mediated cleavage is unaffected by DNA methylation and that the dosage of SpCas9 and sgRNA can be titrated to minimize off-target modification. (cdc.gov)

The paternal origin of the MAGEL2 mutations does not prove causality, because the majority of point mutations occur during spermatogenesis. (biomedcentral.com)

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. (medlineplus.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)
Here we offer an explanation for the apparently discrepant findings, which is also important for deciphering the role of candidate genes in PWS and other contiguous gene syndromes. (biomedcentral.com)
Objective: To identify known and/or novel rare variants in major candidate genes associated to EOD by high-throughput sequencing. (unibs.it)
Overall, 69% (n = 9) of our early onset Alzheimer's disease (EAOD) patients, compared with 34% (n = 13) of sporadic late onset Alzheimer's disease (LOAD) patients and 27% (n = 73) of non-affected controls (ADNI, whole genome data), were carriers of at least two rare/common risk variants in the analyzed candidate genes panel, excluding the full penetrant mutations. (unibs.it)

Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
Mutations in this gene cause autosomal dominant and autosomal recessive forms of this condition. (medlineplus.gov)
In the autosomal recessive form of amelogenesis imperfecta, two copies of the ENAM gene in each cell are altered. (medlineplus.gov)
In summary, it is possible that the MAGEL2 mutations are innocent bystanders and that the patients have autosomal recessive or X-linked recessive disease (note that all patients are male). (biomedcentral.com)
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. (cdc.gov)
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. (cdc.gov)

The gene, which is called MYBL2 , encodes a transcription factor that helps to control the cell division cycle. (elifesciences.org)
We show that the Caenorhabditis elegans egl-2 gene encodes an eag K + channel and that a gain-of-function mutation in egl-2 blocks excitation in neurons and muscles by causing the channel to open at inappropriately negative voltages. (jneurosci.org)
The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)
The responsible gene has been mapped to band 12q24.1, which encodes the human transcription factor TBX5. (medscape.com)

RNA-seq analysis of embryos indicate that in Hat1 mutants over 2000 genes are dysregulated and the observed transcriptional changes imply a delay in the developmental program of gene expression (Varga, 2019). (sdbonline.org)
Currently, there are more than 2000 cell and gene therapy clinical trials ongoing globally which are evaluating the role of about 500 gene and cell therapy products and have shown promising response. (medgadget.com)

[ 2 ] Therefore, blood was collected for germline testing of the SLCO2A1 and HPGD genes by next-generation sequencing and dosage analysis (Leeds Genetics Laboratory, Leeds, UK). (medscape.com)
We have identified and characterized five proteasome subunit genes that are expressed exclusively in the male germline. (syracuse.edu)

Even if the MAGEL2 mutations were causally related to the clinical phenotypes of the patients described by Schaaf et al. (biomedcentral.com)
While it is anticipated that assays should aim to characterize 100-250 genes, some phenotypes and assay formats may be more amenable to moderate scale screening against a subset (50-100) of the gene set. (nih.gov)
CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)

Selective gene dosage by CRISPR-Cas9 genome editing in hexaploid Camelina sativa. (viaf.org)
This diagram shows in true scale the gene on the genome, the mRNAs and the cDNA clones. (nih.gov)
Since the first successful identification of disease-causing variation From whole exome sequencing in 2010 [ 1 ], impressive advances have been made in the field of next generation sequencing and its related analysis, with the aim of fulfilling the promise of whole exome (WES) and whole genome (WGS) sequencing for personalized medicine. (plos.org)
We have previously established that the spontaneous, genome-wide rate of gene duplication in C. elegans is two orders of magnitude higher than the point mutation rate [ 8 ]. (biomedcentral.com)
A genome is an organism's complete set of genes that carry the genetic instructions for building and maintaining that organism. (cdc.gov)
The antimicrobial resistance expected based on analysis of an organism's genome. (cdc.gov)
To maximize the potential disease relevance, genes with a genome-wide significant excess burden of loss-of-function mutations in NPDs such as intellectual disability/developmental delay, autism spectrum disorder, and schizophrenia are the focus. (nih.gov)
The total number of genes in the human genome, which consists of all human genes, is about 30,000. (javatpoint.com)
On 23 pairs of chromosomes, the human genome comprises around 3 billion nucleotides and 20,000 genes. (javatpoint.com)
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. (duke.edu)
in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)
To facilitate mammalian genome engineering applications, we provide a web-based software tool to guide the selection and validation of target sequences as well as off-target analyses. (cdc.gov)

In this study, Mohan et al report on clinical experience with NIPT-SGD, which focuses on a specific set of dominantly inherited or de-novo gene variants in 30 genes. (fmfindia.in)
METHODS: The clinical data of 21 cases of 15q11.2 microdeletion fetuses collected from June 2018 to September 2021 were retrospectively analyzed, and chromosomal microarray analysis was performed. (bvsalud.org)
A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations. (cirn-na.com)
In this study, we described the clinical characteristics of 7 Italian patients, 5 with a diagnosis of frontotemporal dementia behavioral variant and 2 of corticobasal syndrome (CBS), carrying the GRN deletion g.101349_101355delCTGCTGT, resulting in the C157KfsX97 null mutation, and hypothesized the existence of a founder effect by means of haplotype sharing analysis. (cirn-na.com)
Therefore, also with this particular mutation, the elevated clinical variability described among GRN-mutated FTLD cases is confirmed. (cirn-na.com)
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)
Our results further extend on the involvement of PINK1 mutations in recessive early-onset parkinsonism with clinical features similar to carriers of parkin mutations. (biomedcentral.com)
The data were obtained by clinical history and neurological exanffnation, in addition with analysis of their medical records and interview of relatives as well. (fdocuments.net)
The gene therapy involves repairing of defective gene in vivo or delivering the gene product to target cells by clinical safe vehicle. (medgadget.com)
The introduction of gene therapy has shown potential to offer patients with eligible rare genetic diseases a transformational clinical benefit and improve quality of life. (medgadget.com)
Amid region, US is expected to witness significant growth in gene therapy market which is due to clinical trials combined with presence of key companies in the region. (medgadget.com)
The ADRA2A and TCF7L2 gene polymorphisms are important to elucidate part of the variability encountered in clinical characteristics in inflammatory diseases, including CF, which has diabetes-associated as an important comorbidity. (unicamp.br)
The aims of this study ware to determine the frequency of polymorphism rs12255372 in the TCF7L2 gene and its association with Diabetes Mellitus in Cystic Fibrosis patients and to investigate the association of 27 CF clinical variables with ADRA2A polymorphisms. (unicamp.br)
The The gene responsible for FMF is desigi clinical profile, course, genotype, treatment nated MEFV and was recently cloned [ 8 ]. (who.int)

By analyzing mutant strains that have defective proteasomes, and by examining the molecular characteristics of cloned proteasome subunit genes, we are attempting to clarify what specific roles proteasome function plays during development. (syracuse.edu)

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)
Rather than acting as a simple loss-of-function mutation, R3052W behaves as a dominant negative allele, likely by sequestering RAD51 in the cytoplasm. (frontiersin.org)
Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases? (cdc.gov)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

Simple and Efficient Targeting of Multiple Genes Through CRISPR-Cas9 in Physcomitrella patens. (viaf.org)

Results: We detected three rare known pathogenic mutations in the GRN and PSEN2 genes and eleven unknown-impact mutations in theGRN,VCP,MAPT, FUS, TREM2, andNOTCH3genes. (unibs.it)

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)
Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)

Gene therapy is a powerful technology which allows for modification of person's genes in order to develop antibodies for treating or curating diseases. (medgadget.com)
These variations, which may be hereditary or the result of the interplay of a person's genes with their environment, also help to explain why some people are predisposed to particular diseases while others are not. (javatpoint.com)

We screened 98 human glioblastoma samples for genetic and epigenetic alterations in 10 genes and chromosomal loci by PCR and multiplex ligation-dependent probe amplification (MLPA). (eur.nl)
The concept of mutation was coined by Hugo De Vries in 1901, whom worked with plants species of the genus Oenothera where he discovered some phenotypic hereditary characteristics that he coined as "mutations" and "mutants" to those individuals that have these phenotypic alterations. (intechopen.com)
Additionally, exposure to environmental pollutants like cigarette smoke might result in gene alterations. (javatpoint.com)
The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
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)

e) CGH Array results of the patient.The chromosomal localisation together with the RefSeq genes are shown in the upper part of the plot. (biomedcentral.com)

SSPsyGene is designed to provide a collaborative and efficient framework for identifying biological function beyond current small-scale and often ad hoc single gene efforts in order to generate a standardized, experimentally derived, functional catalog of NPD risk genes. (nih.gov)
In these cases, a specific mutation or set of mutations in a single gene can be directly linked to the development of the disorder. (e-kjgm.org)

AceView: gene:him-8, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView. (nih.gov)

snc1 harbors a gain-of-function mutation in the TNL SNC1 (Suppressor of npr1, Constitutive 1) and exhibits autoimmune phenotype. (ubc.ca)

Subsequently, we developed a 2-gene survival predictor. (eur.nl)
A 2-gene predictor for glioblastoma survival was generated. (eur.nl)
Truncating mutations in the chromatin remodeler ASXL1 (ASXL1 MT ) are associated with a high-risk disease phenotype with increased proliferation, epigenetic therapeutic resistance, and poor survival outcomes. (nature.com)
(C) Clonogenic survival analyses of BRCA2 WT versus the two independent R3052W clones after treatment with Olaparib, cisplatin, and mitomycin C. (D) Schematic of I-SceI nuclease-induced DSB HDR luciferase assay. (frontiersin.org)
(G) Clonogenic survival analyses of DLD parental clones upon treatment with mitomycin C. (frontiersin.org)

Haplotype analyses were consistent with a common founder. (coriell.org)
Both affected were homozygous for the deletion that segregated on a haplotype that spanned the gene in a haplotype segregation analysis that was performed using additional markers. (biomedcentral.com)

By combining super-resolution microscopy and chromatin fiber analyses with proximity ligation assays on intact nuclei, old H3 was found to be preferentially incorporated by the leading strand, whereas newly synthesized H3 is enriched on the lagging strand. (sdbonline.org)
Particularly for moderate throughput assays, strategies for selecting a subset of genes from the list should be discussed in the context of the chosen assay(s) or readout(s). (nih.gov)

High-throughput studies uncovered many new target genes of the Pax6 transcription factors during lens development. (wikipedia.org)
ASXL1 MT are further associated with de novo accessibility of distal enhancers binding ETS transcription factors, targeting important leukemogenic driver genes. (nature.com)
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)

In this study, we seek to determine if gene copy-number changes are a common class of genetic change during adaptation and what role, if any, natural selection plays in the maintenance and frequency increase of copy-number variants (CNVs henceforth) in experimental populations. (biomedcentral.com)
Can I include analysis of copy number variants (CNVs) associated with disease risk? (nih.gov)

RESULTS: Multivariate analyses revealed that in comparison with the rural counterparts, the patients from the urban area were significantly more frequently prescribed antipsychotic polypharmacy, clozapine, and benzodiazepines, but the patients from the rural area had more frequently prescribed anticholinergics. (bvsalud.org)

There is ample evidence for the preservation of multiple gene copies due to selection for increased gene dosage in diverse organisms [ 20 ]. (biomedcentral.com)
All students will carry out a series of experiments investigating various aspects of genetic analysis using the research organisms listed above. (syracuse.edu)

We have performed an analysis of the PACRG gene in a cohort of EO-PD cases that have previously been excluded for mutations in the PD associated genes Parkin and D J-1. (fdocuments.net)
We herein report, to our knowledge, the first observation on the frequency and nature of GATA1 gene mutations in a cohort of Malaysian children with DS-associated TAM (n = 9) and ML-DS (n = 24) encountered successively over a period of five years at a national referral centre. (smj.org.sg)
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2. (cdc.gov)

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

The resulting phenotypic data will be integrated across modalities, levels of organization, and genes to create a harmonized, integrated knowledge base needed to substantively advance our understanding of basic gene function and, ultimately, make robust inferences into potential shared and unique disease mechanisms. (nih.gov)
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. (cdc.gov)

Although it has long been known that Prader-Willi syndrome (PWS) is caused by the loss of function of imprinted, paternally expressed genes in 15q11q13, the contribution of the different genes within this region has not yet been completely resolved. (biomedcentral.com)

A meta-analysis of 20 studies was performed to test heterogeneity, data integration, and sensitivity on the correlation between 15q11.2 microdeletion and neuropsychiatric diseases. (bvsalud.org)

Pathway analyses suggested that homologous recombination is defective in about half of the tumours analysed, and that NOTCH and FOXM1 signalling are involved in serous ovarian cancer pathophysiology. (nih.gov)
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)
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)
Gene products regulated by bi- directional promoters often interact or function in a common meta- bolic pathway. (fdocuments.net)
Latent factor analysis to discover pathway-associated putative segmental aneuploidies in human cancers. (duke.edu)
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)

Of the 29 patients who underwent GATA1 analysis, GATA1 mutations were observed in 15 (51.7%) patients, including 6 (75.0%) out of 8 patients with TAM, and 9 (42.9%) of 21 patients with ML-DS. (smj.org.sg)

While the long-term goal of the SSPsyGene Consortium is to build a comprehensively annotated resource describing the CNS function of all neurodevelopmental and psychiatric disorder risk genes, the current target for the initiative is 100-250 protein coding genes. (nih.gov)
The goal of this initiative is to fill a very specific knowledge gap area, which is that many protein-coding genes are now associated with NPD risk, but their basic neurobiology remains poorly understood. (nih.gov)

NIPT-SGD is in its earliest stages of development and considerable potential exists to expand its scope through the sequencing of more genes. (fmfindia.in)
Usually, exome sequencing is performed to identify a gene that is affected in several patients with the same disease. (biomedcentral.com)
Two methodological approaches were applied for the target-Next Generation Sequencing (NGS) analysis of these patients. (unibs.it)

Here, we study a large family of fungal glucosidase genes that underwent several duplication events. (pubchase.com)
In another study, 75 patients with possible HCM underwent genetic analysis, 6 had LAMP2 mutations. (medscape.com)

Mutations in the C9orf72 gene are responsible for 30-40% of familial ALS cases in the United States and Europe. (medscape.com)
In addition, we performed progranulin plasma dosage, C9Orf72 hexanucleotide repeat expansion analysis, and APOE genotyping. (unibs.it)

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)
My major research interests involve the genetic control of development and the molecular mechanisms of gene regulation using the fruitfly, Drosophila melanogaster, as an experimental organism to investigate these topics. (syracuse.edu)

An echocardiogram and detailed fetal ultra- sound were performed, and amniocentesis was offered with karyotype/microarray analysis and BWS molecular testing. (fmfindia.in)
This series highlights the importance of expanded molecular analysis for BWS, and long‐ term follow‐up for malignancies and neurodevelopment. (fmfindia.in)
Reconstruction of ancestral metabolic enzymes reveals molecular mechanisms underlying evolutionary innovation through gene duplication. (pubchase.com)
However, the mechanisms shaping the fate of duplicated genes remain heavily debated because the molecular processes and evolutionary forces involved are difficult to reconstruct. (pubchase.com)
Together, our results provide a detailed picture of the molecular mechanisms that drove divergence of these duplicated enzymes and show that whereas the classic models of dosage, sub-, and neofunctionalization are helpful to conceptualize the implications of gene duplication, the three mechanisms co-occur and intertwine. (pubchase.com)
BCR/ABL + gene expression pattern was more heterogeneous and was most similar to ALL without known molecular rearrangements. (aacrjournals.org)
We also identified a set of 83 genes that were highly expressed in leukemia blasts from patients without known molecular abnormalities who subsequently relapsed following therapy. (aacrjournals.org)
Supervised analysis of kinase genes revealed a high-level FLT3 expression in a subset of cases without molecular rearrangements. (aacrjournals.org)
A identificação das mutações do gene CFTR foi realizada no laboratório de Genética Molecular da FCM/Unicamp. (unicamp.br)

Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar. (mayo.edu)

This showed that the four known genes involved in non-syndromic mental retardation in Xq28, FMR2 , SLC6A8 , MECP2 , and GDI1 , were not involved in the translocation. (bmj.com)

Chromosomes, present in every cell's nucleus, are where genes are stored. (javatpoint.com)
This suggests that the genes on the chromosomes are passed down from parents. (javatpoint.com)
Unmasking a role for sex chromosomes in gene silencing. (duke.edu)

In addition to revealing a new tumor suppressor gene and its contribution to myeloid malignancies, the study by Heinrichs et al. (elifesciences.org)
Mechanistically, EPB41L4A-AS2, acting at least in part as a tumor suppressor, upregulated tumor suppressor gene expression. (cancerindex.org)

The rates of spontaneous gene duplication and deletion are extraordinarily high and speak to the enormous potential of these structural variants for generating new adaptive variability [ 5 - 10 ]. (biomedcentral.com)
Common-risk variants of apolipoprotein E (APOE) and prion protein (PRNP) genes were also assessed. (unibs.it)
Six patients were carriers of only common risk variants (APOE and PRNP), and one did not show any risk mutation/variant. (unibs.it)
ADGCs supported in Phase 2 of the initiative will be involved in continued efforts to refine and expand the list, as well as developing a rigorous, data-informed approach for selecting patient variants in allelic series from a subset of NPD risk genes. (nih.gov)

Comparison of gene targeting efficiencies in two mosses suggests that it is a conserved feature of Bryophyte transformation. (viaf.org)
This suggests that additional mechanisms must be acting to reduce expression of their remaining copy of the gene. (elifesciences.org)
Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
Conclusion: This study suggests that EOD patients without full penetrant mutations are characterized by higher probability to carry polygenic risk alleles that patients with LOAD forms. (unibs.it)
The strong pipeline associated with the robust research and development activities suggests a positive future of gene therapy in pharmaceuticals market. (medgadget.com)

In rare incidences familial forms of early-onset parkinsonism occur, and when recessively inherited, cases are often explained by mutations in either the parkin (PARK2) or PINK1 (PARK6) gene or on exceptional occasions the DJ-1 (PARK7) or ATP13A2 (PARK9) gene. (biomedcentral.com)
We investigated 11 consanguineous families comprising 17 affected with recessively inherited young-onset parkinsonism for mutations both in the parkin and PINK1 gene. (biomedcentral.com)
In the parkin gene, a three generation family was identified with an exon 4 deletion segregating with disease. (biomedcentral.com)
The parkin gene was characterized by Kitada et al . (biomedcentral.com)

Using a forward genetic screen, we identified the recessive boygirl ( byg ) mutation. (plos.org)

We performed a multi-omics interrogation to define gene expression and chromatin remodeling associated with ASXL1 MT in chronic myelomonocytic leukemia (CMML). (nature.com)
Chromatin remodeling of promoters and enhancers is strongly associated with gene expression and heterogenous among overexpressed genes. (nature.com)
2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)

Genes, which are made up of DNA, are the basic units that define the characteristics of every organism. (cdc.gov)

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)
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. (cdc.gov)

Several lines of evidence suggest that these changes were adaptive: (i) copy-number changes reached high frequency or were fixed in a short time, (ii) many independent populations harbored CNVs spanning the same genes, and (iii) larger average size of CNVs in adapting populations relative to spontaneous CNVs. (biomedcentral.com)
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients. (cdc.gov)

The ADRA2A and TCF7L2 gene polymorphisms are important to elucidate part of the variability encountered in. (unicamp.br)

Only a few genes are known to be recessively inherited in early-onset parkinsonism. (biomedcentral.com)

Caenorhabditis elegans gene him-8 , high Incidence of Males, encoding HIM-8 like family member. (nih.gov)
Here we report that the behavioral defects in the C. elegans egl-2 mutant are caused by a gain-of-function ( gf ) mutation in an eag-like K + channel. (jneurosci.org)

However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)
To identify possible deletion/duplication mutations, gene dosage studies were perforated. (fdocuments.net)

Single-cell genetic analysis of clonal dynamics in colorectal adenomas indicates CDX2 gain as a predictor of recurrence. (cancerindex.org)

The finding that MKRN3 loss of function alone causes central precocious puberty, but not in combination with the loss of function of the SNORD116 genes, indicates that the SNORD116 loss of function is epistatic to MKRN3 loss of function, probably because the SNORD116 genes act developmentally upstream of MKRN3 . (biomedcentral.com)

Worldwide, approximately 20% of cases of familial ALS are due to a mutation in the Cu/Zn superoxide dismutase-1 gene ( SOD1 ). (medscape.com)
2001) found that more than 99.5% of disease alleles causing familial dysautonomia (223900) in Ashkenazi Jewish individuals carried a donor splice site mutation (IVS20+6T-C) which leads to deletion of exon 20 from mRNA. (coriell.org)
2001) identified the same mutation in Ashkenazi Jewish patients with familial dysautonomia. (coriell.org)

A new system for fast and quantitative analysis of heterologous gene expression in plants. (viaf.org)
Myeloid malignancy patients lacking one copy of this gene showed levels of MYBL2 expression that were less than 50% of those in healthy individuals. (elifesciences.org)
Hence, this finding reveals a more general role for MYBL2 as it indicates that more patients are likely to be affected by altered expression of this gene. (elifesciences.org)
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)
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)
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)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
In contrast, natural selection for increased gene expression may represent an important mechanism by which duplicate gene copies are maintained in populations [ 14 ]. (biomedcentral.com)
To characterize gene expression signatures in acute lymphocytic leukemia (ALL) cells associated with known genotypic abnormalities in adult patients. (aacrjournals.org)
Gene expression profiles from 128 adult patients with newly diagnosed ALL were characterized using high-density oligonucleotide microarrays. (aacrjournals.org)
These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)
Mechanisms regulating protein function and gene expression. (syracuse.edu)
We performed northern blot analyses for the guide RNA truncations and found increased levels of expression for the longer tracrRNA sequences, suggesting that improved target cleavage was at least partially due to higher sgRNA expression or stability ( Fig. 1c ). (cdc.gov)

CMML shares the typical repertoire of genetic driver lesions with other myeloid neoplasms and is particularly enriched in truncating mutations involving ASXL1 (prevalence ~40%) 3 . (nature.com)

These diseases are a result of storage in cellular vacuoles and include Danon disease, Pompe disease, Fabry disease , and a form of HCM related to a mutation in the adenosine monophosphate (AMP)-activated, gamma-2 noncatalytic subunit of protein kinase ( PRKG2 ). (medscape.com)
Numerous internal and external aspects of a person's life, including their likelihood of inheriting a certain eye color or developing certain diseases, are influenced by their genes. (javatpoint.com)
Some diseases frequently run in families because genes are passed down from parents to children. (javatpoint.com)

Anatomy16

Organisms9

Diseases38

Chemicals and Drugs52

Analytical, Diagnostic and Therapeutic Techniques and Equipment35

Psychiatry and Psychology1

Phenomena and Processes121

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Named Groups3

Health Care5

Geographicals1

Somatic13

Genomic10

Chromosome19

Disorders16

Duplications4

Proteins8

Deletions2

Exons4

Methylation8

Point mutations1

Candidate genes5

Autosomal recessive6

Encodes4

20002

Germline2

Phenotypes3

Genome12

Clinical14

Subunit genes1

Allele4

CRISPR-Cas91

Pathogenic1

Transcriptional2

Person's genes2

Alterations6

Chromosomal1

Single gene2

Annotation1

Gain-of-funct1

Survival5

Haplotype2

Assays2

Transcription3

Copy-number v2

Multivariate1

Organisms2

Cohort3

Premature stop2

Phenotypic2

Different genes1

Microdeletion1

Pathway6

GATA11

Protein-codin2

Sequencing3

Underwent2

C9orf722

Regulation2

Molecular9

Missense1

Known genes1

Chromosomes3

Tumor suppressor2

Variants4

Suggests5

Parkin4

Recessive1

Chromatin3

Organism1

Genotype2

Frequency2

Variability1

Early-onset1

Elegans2

Duplication2

Genetic analysis1

Upstream1

Familial3

Expression14

Prevalence1

Diseases3