• Recent advances in sex chromosome genomics and CRISPR/Cas9-mediated genome editing brought significant insights into the molecular regulators of sex determination in an increasing number of insects and provided new ways to engineer SRD. (bvsalud.org)
  • In all species, Boule and Dazl are located in single copy on autosomes, while multiple DAZ genes are located on the Y chromosome. (ijbs.com)
  • In human, an array of four DAZ genes ( DAZ 1-4) is located in two clusters on the Y chromosome and mutations of these genes cause severe oligospermia or azospermia [ 1 ]. (ijbs.com)
  • Y chromosome harbors male‑specific genes, which either solely or in cooperation with their X-counterpart, and independent or in conjunction with sex hormones have a considerable impact on basic physiology and disease mechanisms in most or all tissues development. (biomedcentral.com)
  • Furthermore, loss of Y chromosome and/or aberrant expression of Y chromosome genes cause sex differences in disease mechanisms. (biomedcentral.com)
  • In this review, the involvement of Y chromosome genes in male-specific diseases such as prostate cancer and the cases that are more prevalent in men, such as cardiovascular disease, neurological disease, and cancers, has been highlighted. (biomedcentral.com)
  • Their X homologs excessively escape X chromosome inactivation, thus researchers classified them as dose-sensitive and haplolethal genes. (biomedcentral.com)
  • Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
  • Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
  • Brief summaries describing the function of each gene's product are of great value to the research community, especially when interpreting genome-wide studies that reveal changes to hundreds of genes. (stanford.edu)
  • However, selection may shift the optimal sex ratio while meiotic drive and endosymbiont manipulation can result in sex ratio distortion (SRD). (bvsalud.org)
  • Depending on the species, DAZL is expressed in primordial germ cells (PGCs) and/or pre-meiotic and meiotic germ cells of both sexes. (ijbs.com)
  • Deletion or mutations of their encoding genes usually severely impair either oogenesis or spermatogenesis or both. (ijbs.com)
  • Here we show that Armigeres subalbatus M factor (AsuMf), a male-specific duplication of an autosomal gene of the Drosophila behaviour/human splicing (DBHS) gene family, is the potential primary signal for sex determination in the human filariasis vector mosquito, Ar. (bvsalud.org)
  • However, writing such summaries is a daunting task, given the number of genes in each organism (e.g. 13,929 protein coding genes in Drosophila melanogaster). (stanford.edu)
  • In FlyBase (the Drosophila genetics database) we have therefore developed a pipeline to obtain such summaries from researchers who have worked extensively on each gene. (stanford.edu)
  • By correlating dynamic patterns of transcription factor expression with rigorous, quantitative analyses of cell behaviors across the salivary gland primordium in Drosophila , their results suggest Hkb and Fkh transcription factor patterning induces switches in cell behaviors at fixed positions to promote continued morphogenesis of the tubular structure. (elifesciences.org)
  • The pathology is caused by a mutation in the huntingtin gene which results in the production of an abnormal protein, mutant huntingtin (mHtt). (bmj.com)
  • We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS. (preprints.org)
  • In multivariate Cox regression analysis, ATM mutation was an independent biomarker for poor prognosis of OS (p=0.022). (preprints.org)
  • Although sex hormones play a key role in sex differences in susceptibility, severity, outcomes, and response to therapy of different diseases, sex chromosomes are also increasingly recognized as an important factor. (biomedcentral.com)
  • Insects have evolved highly diverse genetic sex-determination mechanisms and a relatively balanced male to female sex ratio is generally expected. (bvsalud.org)
  • Sex differences at the genetic/epigenetic level in early development. (ubc.ca)
  • Harenza JL, Muldoon PP, De Biasi M, Damaj MI, Miles MF (2014) Genetic variation within the Chrna7 gene modulates nicotine reward-like phenotypes in mice. (genenetwork.org)
  • They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
  • Sequence homology is an indication of the genetic relatedness of different organisms and gene function. (lookformedical.com)
  • Early in development the expression of the first patterning genes broadly sets up embryonic regions. (elifesciences.org)
  • These regulators include canonical genes that control lipid metabolism as well as genes involved in ubiquitination, transcription, and mitochondrial function. (stanford.edu)
  • Disruption of endothelial environmental chemical substances with developmental toxicities in multiple species, practical homeostasis is considered as a key event within the growth and ranging from overt malformations to refined efects, that would serve as referprogression of atherosclerosis. (ehd.org)
  • Analysis of supporting stromal cells within the tumor environment demonstrates vascular remodeling within the endothelial cells. (pklab.org)
  • data will post limited to the NIH Clinical Center for from 2 to 7 proteins for form outcomes, which cover a vascular infarction and nitrosylated invention, creatinine and Heart mechanisms, care( ECG), Division %, Mechanical Definition muscle( MRI), dysfunction time, and seizure( effectiveness gene of the Abstract). (siriuspixels.com)
  • A comprehensive analysis of the molecular markers for CRC can provide insights into the mechanisms underlying disease progression and help optimize a personalized therapy. (preprints.org)
  • Quantitative Trait Loci and Candidate Genes for Neutrophil Recruitment in Sterile Inflammation Mapped in AXB-BXA Recombinant Inbred Mice. (genenetwork.org)
  • Here we test this hypothesis in mice lacking the high affinity N -formylpeptide receptor (FPR), created by targeted gene disruption. (silverchair.com)
  • The role of MSY genes in important cellular processes such as transcription regulation, translation, and protein stability in males is vital not only in sex determination but also in sex-dependent organ development [ 3 ]. (biomedcentral.com)
  • Despite extensive studies on the effect of these genes on the development pathways, some MSY genes have remained as missing proteins with no experimental protein evidence due to highly transient and spatio-temporal restricted expression patterns. (biomedcentral.com)
  • At least one of these genes, flavin-monooxygenase-2, is a well-conserved protein known to be involved in xenobiotic metabolism. (uw.edu)
  • In Systems Genetics , Methods in Molecular Biology 1488:75-120 [An updated primer in using GeneNetwork for molecular analysis of mouse and human cohorts. (genenetwork.org)
  • Here, we perform single-cell RNA sequencing (scRNA-seq) on 19 human NB samples coupled with multiplex immunohistochemistry, survival analysis, and comparison with normal fetal adrenal gland data. (pklab.org)
  • Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that is defined by a cytosine, adenine, guanine (CAG) repeat expansion in exon 1 of the huntingtin gene leading to the production of mutant huntingtin (mHtt). (bmj.com)
  • Analysis of the GH/IGF1 pathway was done evaluating the expression of several hypothalamic-pituitary-bone axis markers by RT-qPCR. (biomedcentral.com)
  • The patterning and fate determination gene products do not directly affect morphogenetic changes, but rather instruct the expression of downstream morphogenetic effectors that drive a tissue primordium down a path of defined physical changes. (elifesciences.org)
  • Cell cycle gene expression networks discovered using systems biology: Significance in carcinogenesis. (genenetwork.org)
  • This is largely a result of the complex effects of breakpoints on gene structure, function and expression. (biomedcentral.com)
  • We showed previously that cytoplasmic release of mtDNA activates the cGAS STING TBK1 pathway resulting in interferon-stimulated gene (ISG) expression that promotes antiviral immunity4. (regenerativemedicine.net)
  • Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)
  • These genes, encoding for RNA binding proteins, contain a highly conserved RNA recognition motif and at least one DAZ repeat encoding for a 24 amino acids sequence able to bind other mRNA binding proteins. (ijbs.com)
  • Methods We assessed the functional status of platelets by performing ELISA, western blot and RNA sequencing in a cohort of 71 patients and 68 age- and sex-matched healthy control subjects. (bmj.com)
  • Deletion of DAZ gene is the most common causes of infertility in humans. (ijbs.com)
  • Its action overlaps that of SOX9, though they are antagonistic in female vs male gonadal sex determination but conjoint in cartilage and skeletal development. (biomedcentral.com)
  • Interestingly, in the gonad, it is also the only gene that has been found expressed uniquely in the ovary compared to the testis, and likely functions as an antagonist of the testis-determining SOX9 in gonadal development [ 4 ]. (biomedcentral.com)
  • Genes & Development 21 (3): 316-331. (mdc-berlin.de)
  • Brownbill P, Sebire N, McGillick EV, Ellery S, Murthi P (2018) Ex vivo dual perfusion of the human placenta: Disease simulation, therapeutic pharmacokinetics and analysis of off-target effects. (hudson.org.au)
  • Joint mouse-human phenome-wide association to test gene function and disease risk. (genenetwork.org)
  • In order to better understand how HIF-1 increases longevity and to relate these findings to mammals, our project aims to find the specific genes and tissues downstream of HIF-1 that benefit worm longevity without the consequences of VHL disease. (uw.edu)
  • Sex and APOE e4 carrier effects on atrophy, amyloid PET, and tau PET burden in early-onset Alzheimer's disease Alzheimers Dement. (usc.edu)
  • Hayes SK, Hager R, Grencis RK (2014) Sex-dependent genetics effects on immune responses to parasitic nematodes. (genenetwork.org)
  • We quantified the degree of damage to the hair cells 5 hours after neomycin treatment by scoring (ranking) hair cell clusters based on cluster size and counting the number of hair cells located in specific areas. (uw.edu)
  • Single-cell transcriptomic analysis of tumor cells from the primary tumors reveals a distinct transcriptional signature that is predictive of metastatic potential and patient survival. (pklab.org)
  • An in silico cell-to-cell interaction analysis highlights the CXCL9/CXCL10-CXCR3 axis and the CD70-CD27 axis as potential therapeutic targets. (pklab.org)
  • Given the extreme toxicity of some of the toxins of these TA systems, we were curious how the cell silences toxins, if the antitoxin is inactivated or when toxins are obtained without antitoxins via horizontal gene transfer. (preprints.org)
  • Furthermore, there is significant purifying selection against large and gene-disruptive copy number variations (CNVs), indicating their considerable phenotypic impact. (biomedcentral.com)
  • Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases. (lookformedical.com)
  • DAZ family genes are highly conserved. (ijbs.com)
  • Alam G, Miller DB, O'Callaghan JP, Lu L, Williams RW, Jones BC 2016 MPTP neurotoxicity is highly concordant between the sexes among BXD recombinant inbred mouse strains. (genenetwork.org)
  • Our receptor-ligand interaction analysis reveals a highly complex interactive network of the NB microenvironment from which we highlight several interactions that we suggest for future therapeutic studies. (pklab.org)
  • Here we discuss DAZ family genes in a phylogenic perspective, focusing on the common and distinct features of these genes, and their pivotal roles during gametogenesis evolved during evolution. (ijbs.com)
  • Assessment of cardiovascular remodeling, diastolic function in echocardiography, and NT-proBNP was analyzed with univariate analysis and multi-parameter analysis of covariance (MANCOVA). (scipedia.com)
  • Secondary, mRNA-seq analysis identified Gadd45 as a potential transcriptional target of dGLYAT, as depletion of dGLYAT decreased Gadd45 mRNA level. (sdbonline.org)
  • Microscopically, the analysis of follicular most cancers is made when vascular and/ or capsular invasion is present. (ehd.org)
  • Analysis of 22 tumor samples, including multiple myeloma, gastric, breast and thyroid cancers, shows that Numbat can reconstruct the tumor copy number profile and precisely identify malignant cells in the tumor microenvironment. (pklab.org)
  • DAZ (Deleted in Azoospermia) family genes are important fertility factors in many animals including humans. (ijbs.com)
  • These data are important for benchmarking purposes, especially due to disruptions in health care utilization from the COVID-19 pandemic. (cdc.gov)
  • Existing classifications of community type do not differentiate urban cores from surrounding non-rural areas, an important distinction for analyses of community features and their impact on health. (cdc.gov)
  • we have found two genes downstream of HIF-1 that when overexpressed increase nematode longevity. (uw.edu)
  • Primary infection often presents with systemic, prodromal symptoms followed by clusters of painful, fluid-filled vesicles on an erythematous base, dysuria, and painful lymphadenopathy. (lecturio.com)
  • Kennedy CL, Hartland EL (2018) Citrobacter rodentium infection model for the analysis of bacterial pathogenesis and mucosal immunology. (hudson.org.au)
  • An in-house algorithm predicts and ranks expert authors for each gene based on the data within FlyBase and extracts their email addresses from papers that we have curated. (stanford.edu)
  • The computational barriers to joint analysis are now minimal. (genenetwork.org)
  • The convergence of systems and reductionist approaches in complex trait analysis. (genenetwork.org)
  • The family includes Boule (or Boll ), Dazl (or Dazla ) and DAZ genes. (ijbs.com)