Sequence data molecular gene frequency. Medical search. Frequent questions

Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy. (nih.gov)
Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. (ox.ac.uk)
01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). (ox.ac.uk)
BACKGROUND: : Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma. (lu.se)
We analyzed families with two or more cases of melanoma for germline mutations in CDKN2A and CDK4 to elucidate the contribution of these gene defects to familial malignant melanoma and to the occurrence of other cancer types. (lu.se)
METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)
Gene abnormalities, including mutations and fusions, are important determinants in the molecular diagnosis of myeloid neoplasms. (bvsalud.org)
Consequently, various driver gene mutations were detected across a wide range of allele frequencies in patients with myeloid neoplasms. (bvsalud.org)
Mutations in the three SHANK genes encoding for postsynaptic scaffolding proteins have been shown to represent risk factors for autism spectrum disorders and other neurodevelopmental disorders. (nature.com)
Our results strongly suggest a causative role of rare SHANK2 variants in SCZ and underline the contribution of SHANK2 gene mutations in a variety of neuropsychiatric disorders. (nature.com)
Mutations in this gene have been associated with Johanson-Blizzard syndrome. (nih.gov)
DNA sequencing of 623 genes with known or potential relationships to cancer revealed more than 1,000 somatic mutations across the samples. (kb.se)
These data provide evidence of somatic mutations in primary lung adenocarcinoma for several tumour suppressor genes involved in other cancers--including NF1, APC, RB1 and ATM--and for sequence changes in PTPRD as well as the frequently deleted gene LRP1B. (kb.se)
Whole-exome sequencing performed as part of TCGA identified 30,626 somatic mutations in 510 tumors, including 28,319 point mutations, 4 dinucleotide mutations, and 2,302 insertions/deletions (indels), making it challenging to easily identify druggable mutations. (cancernetwork.com)
those with recurrent mutations observed at a higher frequency than expected from background mutation levels across the tumors) and employed an integrated pathway approach to develop graphic models for multi-platform data analysis. (cancernetwork.com)
5] As Ma and Ellis point out, although only 35 genes met the criteria of SMGs, and most were relatively uncommon, identification of actionable mutations may have a major impact on treatment, owing to the prevalence of breast cancer. (cancernetwork.com)
For example, despite the low frequency of activating human epidermal growth factor receptor type 2 ( HER2 ) mutations in HER2-nonamplified/nonoverexpressed breast cancers (2%), the mutation pattern and functional studies indicate they are likely driver mutations that may be particularly sensitive to neratinib, an irreversible pan-HER inhibitor. (cancernetwork.com)
The results to date, highlighted by Ma and Ellis, have examined the data from the conventional perspectives of individual mutations, and the likely effects that these mutations have within a gene's interaction "neighborhood," typically in the context of a specific pathway. (cancernetwork.com)
Are most adaptive alleles new mutations or pre-existing alleles segregating at low to moderate frequency within a species? (unc.edu)
The work, published Sept. 8 in Cancer Research , focused on analyses of targeted next-generation sequence data of more than 600,000 mutations from more than 66,000 tumors in 51 cancer types from the AACR (American Association for Cancer Research) Project GENIE (Genomics Evidence Neoplasia Information Exchange) registry, which pools next-generation sequence data from multiple academic institutions. (news-medical.net)
This work generated a comprehensive atlas of both co-occurring and mutually exclusive mutations among RAS and other genes at an unprecedented resolution. (news-medical.net)
KRAS mutations occurred at higher frequency in gastrointestinal tumors, lung cancers and gynecologic malignancies, while NRAS was more frequently mutated in melanoma, thyroid cancer and hematologic malignancies. (news-medical.net)
Mutations were found at different frequencies depending on patient age, sex and gender. (news-medical.net)
Moreover, the allele frequency of gene mutations in cytological specimens showed a correlation with tissue specimens. (eurekalert.org)
Discriminating driver mutations from the ones that play no role in cancer is a severe bottleneck in elucidating molecular mechanisms underlying cancer development. (biomedcentral.com)
This article presents a comprehensive study to map mutations from 29 cancer types to both sequence- and structure-based domains. (biomedcentral.com)
12 ] mapped non-synonymous somatic mutations of Breast Invasive Carcinoma and Colon Adenocarcinoma Tumor samples to their corresponding protein domains, in order to extract domains with significant mutation frequency. (biomedcentral.com)
To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
Putative pathogenic mutations of the COL11A1 gene were absent in this cohort of patients. (molvis.org)
In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. (molvis.org)
Types 1 and 2 are caused by mutations in the COL2A1 (OMIM 120140 ) and COL11A1 (OMIM 120280 ) genes, respectively. (molvis.org)
It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)
Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
Variants (also called mutations) in the ATM gene cause ataxia-telangiectasia. (medlineplus.gov)
determine the genotype by multiplex-nested-PCR-RFLP of 5' and 3'-SAG2, SAG3 and GRA6 markers, followed by sequencing to confirm RFLP and analyze mutations, verifying whether there is association between parasite load and parasite genotypes in the same pregnancies. (usp.br)
Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)
In Kuwait, no precise data are the only exons where mutations have been available, although some reports have been previously reported [ 5 ]. (who.int)
Mutations in either TSC1 or TSC2, which are tumor suppressor genes that work together to facilitate tumor suppression, cause tuberous sclerosis complex. (medscape.com)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)

V. parahaemolyticus infections in Peru had been predominantly associated with the O4:K8 serotype and sequence type (ST) 88 until 1995 ( 11 ), when a novel genetic variant of O4:K8 emerged in the country. (cdc.gov)
The genetic results from this method are consistent with that of DNA sequencing. (springeropen.com)
G high-frequency variants and explore strategies for clinical genetic diagnosis. (springeropen.com)
Recent genetic data on schizophrenia (SCZ) have suggested that proteins of the postsynaptic density of excitatory synapses have a role in its etiology. (nature.com)
By linking brain expression of these genes to oscillatory patterns, our data help overcome limitations of phenotypic methods to uncover genetic links to memory performance. (nih.gov)
These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. (kb.se)
The goal of my research is to identify, clone, and characterize the evolution of genes underlying natural adaptations in order to determine the types of genes involved, how many and what types of genetic changes occurred, and the evolutionary history of these changes. (unc.edu)
Candidate genes with structural changes are identified using population genetic data and positional cloning. (unc.edu)
Subsequently, candidate genes and their regulatory regions are analyzed in order to pinpoint the genetic changes that have occurred and how they have evolved. (unc.edu)
Once these genes are cloned, I can explore the genetic mechanism of attraction behavior and see if homologs of these genes are involved in the olfactory behavior of other species. (unc.edu)
The ENCODE project [42] has confirmed that this phenomenon is ubiquitous in higher genomes, wherein a given DNA sequence routinely encodes multiple overlapping messages, meaning that a single nucleotide can contribute to two or more genetic codes. (uncommondescent.com)
40. Trifanov EN (1997) Genetic sequences as products of compression by inclusive superposition of many codes. (uncommondescent.com)
The objective of this research is to identify genes associated to desiccation-rehydration cycle in the transcriptome of H. cruentum to better understand the genetic dynamics behind its desiccation tolerance mechanism. (frontiersin.org)
In this study, a genetic analysis of gf segregating populations indicated that gf was controlled by a single recessive gene. (researchsquare.com)
A gene controlling the golden flesh trait in watermelon was firstly discovered and fine-mapped to a 39.08-Kb region on chromosome 1 through a forward genetic strategy, and Cla97C01G008760 (annotated as phytoene synthase protein, ClPsy1 ) was recognized as the most likely candidate gene. (researchsquare.com)
The data have implications for genetic diagnosis and counseling. (biomedcentral.com)
ID has a prevalence of about 2-3% of global populations, and males exceed females by 20-30%, likely due to an enrichment of genes on the X-chromosome that are required for the neurodevelopment and the genetic imbalances in X-chromosomes. (biomedcentral.com)
Researchers at the Johns Hopkins Kimmel Cancer Center, three other cancer centers and the Johns Hopkins Bloomberg School of Public Health compiled a comprehensive genetic architecture atlas for mutant RAS genes in human cancers. (news-medical.net)
They studied the cancer type-specific prevalence of KRAS , NRAS and HRAS mutant alleles (alternative forms of a gene) at codons (units of genetic code) 12, 13 and 61 in the overall population and stratified their results by patient age, race and gender. (news-medical.net)
Yet, the allele frequency changes driven by selection and exploited in selection detection methods, are similar to those caused by the strong neutral genetic drift expected during a bottleneck. (biorxiv.org)
Despite the detection of many putative outlier loci in the empirical Alpine ibex RADseq data, none met the threshold needed to distinguish them from genetic drift-driven false positives. (biorxiv.org)
Many EST libraries were constructed from RNA extracted from various genetic backgrounds, thus gene identification from these sources is complicated by the existence of both gene and allele sequence differences. (biomedcentral.com)
We used the ESTminer suite of programs to identify potential soybean gene transcripts from a single genetic background allowing us to observe functional classifications between gene families as well as structural differences between genes and gene paralogs within families. (biomedcentral.com)
The work of the Section wide genotyping studies, as well as ants may be conferring genetic suscep- combines large population-based studies extensive sequencing work. (who.int)
[ 2 ] . Molecular analysis is helpful in confirming a diagnosis and genetic counseling. (medscape.com)

These results are reinforced by data integration including single nucleotide polymorphism array and gene expression array. (kb.se)
To demonstrate the utility of the method, we infer selective pressures acting in Drosophila melanogaster and D. simulans from polymorphism and divergence data for 100 X-linked coding regions. (ox.ac.uk)
These data will provide new insight into how genomes evolve, which types of genes are evolving most rapidly, the relationships between recombination, DNA divergence, and DNA polymorphism, and details about the spatial and organizational evolution of genomes. (unc.edu)

In the present study, we used unphased genotype data for 12 common biallelic BRCA1 SNPs (located from exons 4 to 16) generated during sequence based clinical mutation testing to obtain BRCA1 SNP haplotypes for 5911 anonymised samples, by applying an expectation maximisation (EM) algorithm similar to those described elsewhere. (bmj.com)
So far, common variants in the SHANK1 gene were reported to be associated with reduced auditory working memory in SCZ 36 and a rare de novo loss-of-function mutation affecting SHANK1 was recently found in a large-scale exome-sequencing study. (nature.com)
Their four-year study of the RAS family - including the KRAS , NRAS and HRAS genes that are mutated in approximately one-third of all human cancers - found that the frequency of mutant RAS genes differs among various tumor types, age, sex and racial groups, and co-mutation patterns among RAS genes and other genes potentially can result in different clinical outcomes or identify new areas for therapeutic intervention. (news-medical.net)
Led by Robert Scharpf, Ph.D., associate professor of oncology at the Johns Hopkins Kimmel Cancer Center, the team developed novel analytical frameworks to assess the prevalence and co-mutation patterns of RAS genes in the AACR Project GENIE registry. (news-medical.net)
111 cases (68.1%) had gene mutation, including 58 cases (35.6%) of EGFR, 25 cases (15.3%) of KRAS, 9 cases (5.5%) of MET Ex14 skipping, 6 cases (3.7%) of ALK fusion, 6 cases (3.7%) of BRAF, 4 cases (2.5%) of ERBB2, 2 cases (1.2%) of ROS1 fusion and 1 case (0.6%) of RET fusion. (eurekalert.org)
To evaluate the role of mitochondrial genes, stem cell-specific genes and DNA repair genes in cancer development, their mutation frequency was determined via further analysis. (biomedcentral.com)
This study represents a method to explore protein domains with significant mutation frequencies, using whole exome sequencing data. (biomedcentral.com)
This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)

However, it remains a major challenge to determine the molecular mechanisms underlining this activity in humans. (nih.gov)
The study therefore provided a molecular basis for detection and identification of Mycobacterium species in animals and humans. (openmicrobiologyjournal.com)
In humans, SLC16A1 has been established as one of the most important genes related to exercise predisposition. (biomedcentral.com)

Whole-genome sequence contigs clone ST-3, which also originated in Asia ( 8 , 12 ). (cdc.gov)
Whole-genome sequencing of clinical and environmental samples from the outbreak revealed a new V. parahaemolyticus clone. (cdc.gov)
Whole-genome sequence contigs for each strain were de novo assembled by using CLC Genomics Workbench version 7.5.1 (QIAGEN, Valencia, CA, USA). (cdc.gov)
Whole-genome sequencing of non-model organisms is now widely accessible and has allowed a range of questions in the field of molecular ecology to be investigated with greater power. (lu.se)
Efforts are underway to produce whole genome sequences for several other species of Drosophila (see the UC Davis - DPGP project site for details). (unc.edu)
The TDH performed point prevalence surveys, discharge screening, onsite observations, and environmental testing at ACH A. The VIM-CRPA isolates underwent whole-genome sequencing (WGS). (cdc.gov)
When available, the information provided by whole-genome sequencing projects provides an entry into an understanding of genome structure and evolution and gene discovery, and function. (biomedcentral.com)

TNFc is located within the first intron of the TNF-beta gene and has only 2 alleles. (ox.ac.uk)
TNFa and TNFb are 3.5 kilobases upstream (telomeric) of the TNF-beta gene and have at least 13 and 7 alleles, respectively. (ox.ac.uk)
Currently, I am using molecular markers and QTL mapping techniques to precisely map regions harboring adaptive alleles. (unc.edu)

Evolution of genes and genomes on the Drosophila phylogeny. (kb.se)
With the availability of complete genome sequences, several studies have attempted to identify intronless genes in many eukaryotic genomes and subsequently determine their functional and evolutionary history. (biomedcentral.com)
Until now, no intronless gene database has been developed for sequenced Poaceae genomes. (biomedcentral.com)
Both pufferfish genomes encode five tenascin genes: two tenascin-C paralogs, a tenascin-R with domain organization identical to mammalian and avian tenascin-R, a small tenascin-X with previously undescribed GK repeats, and a tenascin-W. Four tenascin genes corresponding to tenascin-C, tenascin-R, tenascin-X and tenascin-W were also identified in the X. tropicalis genome. (biomedcentral.com)
Such EST data form a valuable foundation for the understanding of the gene composition and genomic biology of yet-to-be fully sequenced genomes [ 3 ]. (biomedcentral.com)

However, researchers lead by Kei Morikawa, St. Marianna University School of Medicine, Japan today reported data that the success rate of gene analysis using cytological specimens was extremely high, and the yield and quality of the extracted nucleic acid were also sufficient for panel analysis. (eurekalert.org)
The success rate of gene analysis using cytological specimens was extremely high, and the yield and quality of the extracted nucleic acid were also sufficient for panel analysis," Dr. Morikawa reported. (eurekalert.org)
NMR spectroscopy or X-ray crystallography, but important width measurements at a single resonance frequency (or questions remain concerning the energetics, stability, and magnetic field strength), making it difficult to separate dynamics of this structurally diverse nucleic acid class. (lu.se)

The gold standard test to identify the presence of SARS-CoV-2 in COVID-19 patients is the real-time reverse transcription-quantitative polymerase chain reaction (RT-qPCR), but inconclusive data and false-positive diagnosis remain the major problem of this approach. (allenpress.com)
Demands for molecular diagnosis to test COVID-19 are fast growing around the world, and costs and efficiency of the reverse transcription-quantitative polymerase chain reaction (RT-qPCR) technique have been in check. (allenpress.com)

A population genetics-phylogenetics approach to inferring natural selection in coding sequences. (ox.ac.uk)
The tools of modern biology have made dissecting the molecular genetics of adaptation possible, especially in Drosophila. (unc.edu)
Studies of natural adaptations can lead to a greater understanding of the molecular genetics of important traits. (unc.edu)
Considerable effort has gone into identifying genes involved in olfactory perception however little progress has been made in the genetics of behavior driven by olfactory information. (unc.edu)

Noise deriving from variants with extremely low variant allele frequency (VAF) was detected in smear sample data and removed by filtering. (bvsalud.org)
Our approach has the advantage of performing direct inference on coding sequences, inferring ancestral states probabilistically, utilizing allele frequency information, and generalizing to multiple species. (ox.ac.uk)

METHODS: Culture-dependent and -independent (16S rRNA gene clone libraries were constructed) methods were used to determine the composition of LAB in fermented cabbage. (who.int)
RESULTS: Ninety LAB isolated from fermented cabbage were identified as species of Lactobacillus and Leuconostoc, whereas 115 clones of the 16S rRNA gene sequence from fermented cabbage DNA were identified as Lactobacillus, Weissella, Pediococcus and Leuconostoc. (who.int)
Phylogenetic analysis of the rRNA gene cluster revealed both isolates to be identical. (bournemouth.ac.uk)
The 16S rRNA gene was successfully amplified by PCR in 41 (84%) of the samples. (openmicrobiologyjournal.com)

Programs for the analysis of DNA sequence alignments, protein sequence alignments, or discrete characters (e.g., morphological data) can accept those data in sequential or interleaved format, as shown below. (wikipedia.org)
The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. (nih.gov)
Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. (kb.se)
Forkhead box protein M1 (FOXM1) is a key transcription factor (TF) that regulates a common set of genes related to the cell cycle in various cell types. (mdpi.com)
CONCLUSIONS/SIGNIFICANCE: The screening approach proved powerful in identifying PKS I sequences in large sequence data sets and is applicable to many other protein families. (embl.de)
In a global computational screening of conventional and metagenomic sequence data for NHases, we detected the two usually separated NHase subunits fused in one protein of the choanoflagellate Monosiga brevicollis, a recently sequenced unicellular model organism from the closest sister group of Metazoa. (embl.de)
Still, the RH antigens resisted many attempts to characterize their molecular basis: discussions continued whether all RH antigens derived from a single gene or whether there were three genes coding for C, D, or E. It was not until 1990 that the sequence of the Rh protein was elucidated [ 7,8 ]. (karger.com)
Intronless genes are a characteristic feature of prokaryotes and an important resource for understanding the rules of gene structure and organization, protein functionality and evolutionary differences between eukaryotes and prokaryotes. (biomedcentral.com)
The first evidence of overlapping protein-coding sequences in viruses caused quite a stir, but since then it has become recognized as typical. (uncommondescent.com)
Further fine mapping in a large population with over 1,000 F 2 plants narrowed this region to 39.08 Kb harboring two genes, Cla97C01G008760 and Cla97C01G008770 , which encode phytoene synthase ( ClPsy1 ) and GATA zinc finger domain-containing protein, respectively. (researchsquare.com)
The ZDHHC9 gene (MIM No. 300646) encodes a palmitoyl-transferase that adds palmitate onto various protein substrates. (biomedcentral.com)
This study has provided researchers with a publicly available data repository for studying both CATH and Pfam domain regions on protein-coding genes. (biomedcentral.com)
Beside analyzing Pfam protein domains as sequence-based domains, CATH protein domains have also been studied as structure-based domains, which were not included in relevant studies to this date. (biomedcentral.com)
In order to learn more about their origins and relationships to each other, as well as to clarify the nomenclature used to describe them, the tenascin genes of the urochordate Ciona intestinalis , the pufferfish Tetraodon nigroviridis and Takifugu rubripes and the frog Xenopus tropicalis were identified and their gene organization and predicted protein products compared with the previously characterized tenascins of amniotes. (biomedcentral.com)
Variants in the ATM gene reduce or eliminate the function of the ATM protein. (medlineplus.gov)
Full-envelope protein sequences for each serotype their initial consultation or are still in transit during their were aligned by using the multiple alignment tool of viremic phase. (cdc.gov)
The key factor determining transmembrane lactate transport is the monocarboxylate transporter 1 protein coded for by the SLC16A1 gene. (biomedcentral.com)

We know little about the mechanisms, frequency, or patterns underlying these events. (unc.edu)
In the recent decade, remarkable progress has been made in identifying new causative genes and understanding the underlying mechanisms in over 100 XLID conditions [ 4 ]. (biomedcentral.com)
The effects of ginseng oligosaccharides (GSOs) on neuronal oxidative injury induced by glutamate (GLU) and the molecular mechanisms involved were investigated. (sdbonline.org)
Our objective was to characterize the molecular epidemiology and AMR mechanisms of this pathogen. (who.int)

Initially illnesses were reported only in the genome sequencing of clinical and environmental samples from the outbreak revealed a new V. parahaemolyticus northern cities of Peru (Cajamarca, Chiclayo, and Piura), clone. (cdc.gov)
Clinical cancer genomic testing based on next-generation sequencing can help select genotype-matched therapy and provide diagnostic and prognostic information. (bvsalud.org)
The empirical data were obtained from clinical studies performed by the JSP in collaboration with leading Japanese cancer genome research projects. (bvsalud.org)
These findings demonstrated that smear samples can be used for clinical molecular diagnosis with adequate noise-reduction methods even if the DNA and RNA quality is inferior. (bvsalud.org)
Before the clinical application of gene diagnosis, the imageological examination was the only way of LVAS diagnosis and had stated clearly that LVAS is the most common inner ear malformation (Connor et al. (springeropen.com)
There are clinical challenges related to adjuvant treatment in colorectal cancer (CRC) and novel molecular markers are needed for better risk stratification of patients. (frontiersin.org)
In their article in this issue of ONCOLOGY, Drs. Ma and Ellis report on the clinical implications of The Cancer Genome Atlas (TCGA) project for breast cancer,[1] a collaborative effort that resulted in the integration of DNA sequencing with genome-wide profiling of the epigenome, microRNAome, transcriptome, and proteome from more than 500 primary breast cancers. (cancernetwork.com)
Glu309Lys) gene has been identified related to new clinical findings. (biomedcentral.com)
To address this, Dr. Morikawa and colleagues evaluated the feasibility of performing gene panel tests using cytological specimens including transbronchial brushing, transbronchial needle aspiration, and pleural effusion in clinical practice. (eurekalert.org)
Cruz Garcia Rodriguez Address Unidad de Inmunologia, Hospital La Paz, Paseo de Address la Castellana 261, 28046 Madrid, Spain Telephone +34-91-7277095 Fax +34-91-7277095 Email [email protected] Method SSCP, Direct sequencing Frequency Whenever required Samples 2 samples per year Prices 300 EUR/patient 112/carrier Comment Patient samples are only accepted for analysis after Comment prior consultation and submission of clinical and Comment laboratory data. (lu.se)
SSCP Frequency Weekly Samples 12 patients /year Prices 482 EUR/patient, 180 EUR/carrier Comment Patient samples are only accepted for analysis after Comment prior consultation and submission of clinical and Comment laboratory data. (lu.se)

SUMMARY: SmashCommunity is a stand-alone metagenomic annotation and analysis pipeline suitable for data from Sanger and 454 sequencing technologies. (embl.de)
Sanger sequencing, co-segregation analysis, structural modeling, and in silico analysis were done to verify the causative variants. (biomedcentral.com)
Sanger sequencing was used to analyze all coding and adjacent regions of the COL2A1 and COL11A1 genes. (molvis.org)

The Ras-assocation family (RASSF) of tumour suppressor genes (TSGs) contains 10 members that encode proteins containing Ras-assocation (RA) domains. (bath.ac.uk)

High frequencies of the fecal Enterococcus isolates with vancomycin-resistance (VR, 32.6% and 41.9%), high-level of gentamicin-resistance (HLGR, 25.6% and 27.9%), and multi-drug resistance phenotypes (MDR, 48.8% and 65.1%) were detected at admission and discharge times, respectively. (biomedcentral.com)
The current study's findings expand the existing knowledge of variants of the genes implicated in XLID and broaden the spectrum of phenotypes associated with the related conditions. (biomedcentral.com)

The objective of this study was to identify Mycobacterium species isolated in cattle in Zimbabwe using 16S ribosomal RNA gene amplification and sequencing. (openmicrobiologyjournal.com)
In addition, mitochondrial DNA (mtDNA) encodes 2 ribosomal RNA genes and 22 transfer RNA (tRNA) genes necessary for the intramitochondrial synthesis of these 13 polypeptides. (medscape.com)

Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. (kb.se)
Thus it is surprising that we know so little about the molecular basis of adaptive evolution. (unc.edu)
Clearly, a deeper understanding of how genes change during adaptation will give insight into the potential and limits of adaptive evolution. (unc.edu)
however, they are widespread and unequally distributed among eukaryotes and represent an important resource to study the evolution of gene architecture. (biomedcentral.com)
The predominance of single nucleotide insertion/deletions and substitution events between genes within families (individual genes and gene paralogs) is consistent with a model of gene amplification followed by single base random mutational events expected under the classical model of duplicated gene evolution. (biomedcentral.com)

We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. (kb.se)
The presence of an intron, subunit fusion and expressed sequence tags covering parts of the gene exclude contamination and suggest a functional gene. (embl.de)
PIGD will allow researchers to easily identify intronless genes, integrate functional and evolutionary annotations, and search and download detailed information. (biomedcentral.com)
We now know that DNA sequences are typically " poly-functional" [38]. (uncommondescent.com)
AOA have been studied intensively based on the amoA gene (encoding ammonia monooxygenase subunit A), making it the most sequenced functional marker gene. (univie.ac.at)
Functional annotation of gene sequences indicate functional classifications are not randomly distributed among gene families containing few or many genes. (biomedcentral.com)

Also, additional sequence information available for one of these samples showed a heterozygous SNP near exon 17, placing a 3′ limit on the size of the putative deletion. (bmj.com)
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. (nih.gov)
Introns, commonly found in eukaryotes between exon sequences in the DNA, are removed from RNA molecules through splicing during post-transcriptional RNA processing. (biomedcentral.com)
Although the exon-intron gene structure, the split structure of genes, is typical, intronless or single-exon genes account for a significant proportion in most eukaryotes. (biomedcentral.com)
All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. (who.int)
Exons 2 (first coding exon), 3 (second cod- and Kuwait: the incidence in Saudi Ara- ing exon) and 12 of the TBCE gene were bia varies from 1:40 000 to 1:100 000 live chosen for the initial screening as they were births [ 6 ]. (who.int)

Some sequence analysis programs such as the ClustalW alignment program can write data files in the PHYLIP format. (wikipedia.org)
A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. (ox.ac.uk)
This group was selected for molecular analysis because of its abundance, representing 18% of the unusual haplotypes. (bmj.com)
Additionally, rRNA sequence analysis of the green algal endosymbiont revealed that it is closely related to Chlorella vulgaris. (bournemouth.ac.uk)
Along with the molecular species identification, an analysis of the ciliates' stop codons was carried out, which revealed a relationship where TGA stop codon frequency decreased with increasing gene expression levels. (bournemouth.ac.uk)
Our analysis identified 26 genes that are mutated at significantly high frequencies and thus are probably involved in carcinogenesis. (kb.se)
Analysis of the DNA sequences showed that 7 (27%) belonged to Mycobacterium neoaurum , 6 (23%) belonged to Mycobacterium fortuitum , 3 (12%) to Mycobacterium goodii , 2 (1%) to Mycobacterium arupense , 2 (1%) to Mycobacterium peregrinum or M. septicum and 1 isolate (0.04%) to Mycobacterium elephantis . (openmicrobiologyjournal.com)
A first step is the development of more sophisticated computational tools for integrative analysis of TCGA data. (cancernetwork.com)
PIGD provides a solid platform for the collection, integration and analysis of intronless genes in the Poaceae. (biomedcentral.com)
Gene sequence alignment and expression analysis between parental lines revealed Cla97C01G008760 as the best possible candidate gene for gf trait. (researchsquare.com)
Promoter sequence analysis of 26 watermelon accessions revealed two SNPs in the cis -acting element sequences corresponding to MYB and MYC2 transcription factors. (researchsquare.com)
The patients were studied genetically for Fragile X syndrome, followed by whole exome sequencing and analysis of intellectual disability-related genes variants. (biomedcentral.com)
The median DNA / RNA yield and DIN / RIN were 720ng, 481ng, 7.6, and 6.2, respectively, which were sufficiently applicable to the gene panel analysis. (eurekalert.org)
Genotyping and molecular clock epidemics and imported cases, the disease has become a analysis supported Asian origination of a strain that caused major public health issue. (cdc.gov)
Analysis of DENV sequence data facilitates rapid disease USA). (cdc.gov)
Large scale gene analysis of most organisms is hampered by incomplete genomic sequences. (biomedcentral.com)
Analysis of these sequences revealed single base substitutions and single base indels are the most frequently observed form of sequence variation between genes within families in the dataset. (biomedcentral.com)
All the authors have approved the review procedure, data analysis, reporting and submission of the analysis outcomes. (who.int)

Although many databases on exons and introns exist, there is currently no cohesive database that collects intronless genes in plants into a single database. (biomedcentral.com)
In eukaryotes, most genes are composed of exons and introns. (biomedcentral.com)

Genomic sequencing of selected loci indicate that intron-like intervening sequences are numerous and are approximately 220 bp in length. (biomedcentral.com)

Recently, our group has constructed a P. alata linkage map consisted of different types of molecular markers. (usp.br)
For the development of SSR markers, the 672 sequences from the forward library were investigated and 91 of them were found to have 115 SSRs. (usp.br)
I am currently using additional molecular and visible markers to fine map these regions. (unc.edu)
Therapeutic Efficacy of Artemisinin-Based Combination Therapies in Democratic Republic of the Congo and Investigation of Molecular Markers of Antimalarial Resistance. (cdc.gov)

3 Interestingly, two BRCA1 haplotypes account for the bulk of the genotypes, the consensus at 59% frequency, and the most common non-consensus haplotype at 21% (fig 1). (bmj.com)
Molecular studies revealed that the Erysiphe resistant ( er1 ) gene was present in 40 lines out of selected 50 pea lines and the mutational character was conferred up to 36 genotypes with 11 haplotype groups. (nature.com)

These data have been further integrated and augmented by a number of evolutionary and computational analyses. (kb.se)
Phylogenetic analyses and genomic context imply a probable ancient horizontal gene transfer (HGT) from proteobacteria. (embl.de)
Here, based on extensive phylogenetic and meta-data analyses of 33,378 curated archaeal amoA sequences, we define a highly resolved taxonomy and uncover global environmental patterns that challenge many earlier generalisations. (univie.ac.at)
RÉSUMÉ L'Organisation mondiale de la Santé (OMS) émet des recommandations quant aux virus à inclure dans les vaccins contre les grippes saisonnières des hémisphères nord et sud, en fonction des analyses réalisées par ses centres collaborateurs. (who.int)

A phylogenetic tree based on the predicted amino acid sequences of the fibrinogen-related domains demonstrates that tenascin-C and tenascin-R are the most closely related vertebrate tenascins, with the most conserved repeat and domain organization. (biomedcentral.com)

Single-nuclei RNA-sequencing and single-nuclei chromatin accessibility obtained from similar Brodmann Area 38 samples were used to define the cell-type composition of genes and coexpressed gene expression modules associated with memory oscillation. (nih.gov)
Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. (kb.se)

6XUYLYDO RI FDQFHU SDWLHQWV Survival data allow the calculation of the prevalence of organ-specific neoplasms in a given country and provide a basis for national cancer control strategies to be pursued in collaboration with the WHO programme on cancer control. (who.int)

The use of bone marrow (BM) smears as a source of DNA and RNA for next-generation sequencing (NGS) enables molecular diagnosis to be done with small amounts of bone marrow and is especially useful for patients without stocked cells, DNA or RNA. (bvsalud.org)
The method is extremely suitable for quickly molecular etiologic screening and early diagnosis and aggressive prevention therapy of LVAS. (springeropen.com)
Thus, by evaluating these two genes, patients may obtain an early diagnosis, and early prophylactic measurements may be obtained. (molvis.org)
To compare the fitness of 2 primer sets to the SARS-CoV-2 nucleocapsid phosphoprotein gene ( NP ) in the molecular diagnosis of COVID-19, we verified the inconclusive data and confidence of high cycle threshold (Ct) values in SARS-CoV-2 detection. (allenpress.com)
Comment do their molecular diagnosis and family carriers. (lu.se)

In this study, we present the Poaceae Intronless Genes Database (PIGD), a user-friendly web interface to explore information on intronless genes from different plants. (biomedcentral.com)
This database, with a user-friendly web interface, provides access to a collection of intronless genes from five genome sequenced Poaceae, including Sorghum bicolor , Zea mays , Setaria italica , Panicum virgatum and Brachypodium distachyon . (biomedcentral.com)

Candidate genes with changes in expression are identified through microarray and other expression studies. (unc.edu)
COL2A1 and COL11A1 are common candidate genes for Stickler syndrome, and both are related to the form of Stickler syndrome with an obvious ocular phenotype. (molvis.org)

Out of the 41 samples that showed amplification, 26 (63%) had strong PCR bands and were selected for DNA sequencing. (openmicrobiologyjournal.com)

Using single-cell RNA sequencing of isolates from both countries, the transcriptome of S. semivirescens was generated. (bournemouth.ac.uk)

Patients were genotyped for a panel of 192 tagging polymorphisms in 34 immune-related genes. (frontiersin.org)
The aim of the present research was to identify polymorphisms in the coding sequence and UTRs in the equine SLC16A1 gene and to evaluate their potential association with race performance traits in Arabian horses. (biomedcentral.com)

We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. (nih.gov)

39. Trifonov EN (1989) Multiple codes of nucleotide sequences. (uncommondescent.com)
Nucleotide Variation In The Phytoene Synthase (ClPsy1) Gene Contributes To Golden Flesh In Watermelon (Citrullus Lanatus L. (researchsquare.com)

Finally, we assessed further technical improvements, such as nanopore adaptive sequencing and bioinformatic tools using pangenomes, which have the potential to further expand our knowledge of a number of genomic regions that remain challenging to study with classical resequencing approaches. (lu.se)

As several synaptic proteins like neurexins and neuroligins are interaction partners of the SHANKs and associate with both disorders, the question arises if variants in the SHANK genes themselves can be associated with SCZ. (nature.com)
METHODOLOGY/PRINCIPAL FINDINGS: We have estimated frequencies of type I PKS (PKS I) - a PKS subgroup - in natural environments by using Hidden-Markov-Models of eight domains to screen predicted proteins from six metagenomic shotgun data sets. (embl.de)
We were able to identify numerous novel PKS I proteins, the highest density of which was found in Minnesota farm soil with 136 proteins out of 183,536 predicted genes. (embl.de)
We also applied the protocol to UniRef database to improve the annotation of proteins with so far unknown function and identified some new instances of horizontal gene transfer. (embl.de)

The current ease in obtaining genome-wide SNP data has driven a renaissance of studies scanning for selection at the genomic level in wild populations (e.g. (biorxiv.org)

Using an amplicon-based high-sensitivity next generation sequencing panel test capable of measuring eight druggable genes (EGFR, BRAF, KRAS, ERBB2, ALK, ROS1, MET, RET), Dr. Morikawa prospectively enrolled consecutive patients who underwent diagnostic procedures from May 2020 to January 2022. (eurekalert.org)

To date, more than 100 of SLC26A4 gene variants have been identified and described as causally related to hereditary hearing impairment ( https://hereditaryhearingloss.org/ ). (springeropen.com)
In three of four families, novel deleterious variants have been identified in three different genes, including ZDHHC9 ( p. (biomedcentral.com)

Using resected tissue transcriptomics from the same patients, we linked gene expression with brain oscillations, identifying genes correlated with oscillatory signatures of memory formation across six frequency bands. (nih.gov)
Transcriptomic data obtained from resected human Brodmann Area 38 tissue were integrated with intracranial electroencephalography (iEEG) data from the same subjects to link memory-related oscillations with gene expression in 16 subjects. (nih.gov)
RNA-seq data and qRT-PCR verification showed that two MYBs and one MYC2 exhibited expression trends similar as ClPsy1 in the parental lines, which may thus play roles in the regulation of ClPsy1 expression. (researchsquare.com)
As an approach to mechanistic discovery, we investigated whether MIND diet (Mediterranean-DASH Diet Intervention for Neurodegenerative Delay), a consistent risk factor for dementia, is correlated with a specific profile of cortical gene expression, and whether such a transcriptomic profile is associated with dementia, in the Religious Orders Study (ROS) and Rush Memory and Aging Project (MAP). (medrxiv.org)
Cortical expression of several genes appeared to mediate the association between MIND diet and dementia, including TCIM , whose expression in inhibitory neurons and oligodendrocytes was associated with dementia in a subset of 424 individuals with single-nuclei RNA-seq data. (medrxiv.org)

To readdress this rate, we sequenced the mtDNA control region in 272 individuals, who were related by a total of 705 mtDNA transmission events, from 26 large Icelandic pedigrees. (ox.ac.uk)

CEST) -- Personalized medicine for lung cancer using molecular-targeted drugs is common but there have been no prospective validation studies done on the usefulness of lung cancer gene panel testing using cytology samples. (eurekalert.org)
It is safe to use 1 primer set for the NP gene to identify SARS-CoV-2 in samples. (allenpress.com)
A. Brooimans Address Wilhelmina Children's Hospital Dept. of Immunology Address Lundlaan 6, 3584 EA Utrecht, The Netherlands Telephone +31-302504354 Fax +31-302505311 Email [email protected] Method Direct sequencing Turnaround 1 month Samples 8 // Disease Wiskott-Aldrich syndrome and X-linked thrombocytopenia Accession I0009 Date 17-Dec-1999 (Rel. (lu.se)

In Europe and the USA, genotype II is the most prevalent in congenital infections, while in South America there is evidence pointing to a higher frequency of atypical or recombinant genotypes associated with more severe cases. (usp.br)
The different distribution of genotypes depending on race distance indicated the possibility of using a SNP in the SLC16A1 gene as a marker to predict the best race distance for a horse. (biomedcentral.com)

The simulated SNPs were then used to benchmark the confidence we could place in putative outliers identified through selection scans on empirical Alpine ibex SNP data. (biorxiv.org)
Based on RNA-seq data, SNPs were identified and genotyped using PCR-RFLP or PCR-HRM methods in 254 Arabian horses that competed in flat races. (biomedcentral.com)

In this study, we developed a rapid genotyping method for discriminating LVAS-associated high-frequency variants in SLC26A4 gene. (springeropen.com)
The data suggest that exo + polymerase-mediated 3′ terminal phosphorothioate-modified primer extension is reliable in the identification of SLC26A4 gene high-frequency variant prior to high-resolution CT scan. (springeropen.com)
Therefore, screening the high-frequency variant can early diagnose LVAS patients and find variant carriers and then taking measures to prevent further hearing loss by keeping LVAS patients from cold and head injury. (springeropen.com)
COBRA and bisulphite sequencing revealed RASSF6 and RASSF10 were the only RASSF members with a high frequency of leukaemia-specific methylation. (bath.ac.uk)
The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers. (who.int)

Multiple sequence alignment reveals that differences in the size of tenascin-W from various vertebrate classes can be explained by duplications of specific fibronectin type III domains. (biomedcentral.com)
using a redundancy criterion to identify reproducible sequence differences between related genes within gene families. (biomedcentral.com)
The more recent duplication event in particular would be expected to result in many paralogous pairs of genes differing by relatively few sequence differences, thus complicating gene identification using ESTs. (biomedcentral.com)
In addition, long-read sequencing of one representative XDR ST235 isolate identified an integron carrying multiple resistance genes (including bla VIM-2), with differences in gene composition and synteny from the P. aeruginosa class 1 integrons described previously. (who.int)

The culture was done, and Enterococcus species were tested for antimicrobial susceptibility and carriage of v anA-D gene subtypes. (biomedcentral.com)

Infections caused by V. parahaemolyti- carried genes for the variant of the type-3 secretion sys- cus have shown a steady expansion in recent years, with a tem 2 (T3SS2). (cdc.gov)
Targeted DNA sequencing using paired BM cells and smears yielded sequencing data of adequate quality for variant calling. (bvsalud.org)
Previous studies revealed that SLC26A4 gene variant has obvious racial specificity, LVAS patients from different races with unique variant spectra and different variant frequencies (Berrettini et al. (springeropen.com)
The A1731S variant was identified in four unrelated SCZ patients (0.83%) but not in any of the sequenced controls and public databases ( P =4.6 × 10 −5 ). (nature.com)
Carriers of a variant in the ATM gene also may have an increased risk of heart disease. (medlineplus.gov)

In both healthy individuals and patients with Niemann-Pick disease types A and B, fibroblasts synthesize sphingomyelinase polypeptides with the same molecular mass of 110 kd, in the same amount. (medscape.com)

Anatomy3

Organisms8

Diseases2

Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment33

Psychiatry and Psychology1

Phenomena and Processes75

Disciplines and Occupations9

Anthropology, Education, Sociology and Social Phenomena3

Technology, Industry, Agriculture1

Information Science23

Named Groups5

Health Care11

Geographicals3

Mutations39

Genetic25

Polymorphism3

Mutation8

Humans3

Whole genome7

Alleles3

Genomes5

Nucleic Acid3

Polymerase Chain Re2

Genetics4

Allele frequency2

RRNA gene4

Protein17

Mechanisms4

Clinical11

Sanger3

Tumour suppr1

Phenotypes2

Ribosomal2

Evolution5

Functional6

Exon6

Analysis18

Introns2

Loci1

Markers4

Haplotype2

Analyses4

Phylogenetic1

Chromatin accessibility2

Neoplasms1

Diagnosis5

Poaceae2

Candidate genes2

Amplification1

Isolates1

Polymorphisms2

Microsatellites1

Nucleotide2

Bioinformatic1

Proteins4

Genome-wide1

Underwent1

Variants have been identified2

Expression5

MtDNA1

Samples3

Genotypes2

SNPs2

High frequency5

Differences4

Subtypes1

Variant5

Polypeptides1