• Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)
  • The current diagnostic test for FA consists of cytogenetic quantitation of chromosomal breakage in response to diepoxybutane (DEB) or mitomycin C (MMC). (ashpublications.org)
  • The currently used diagnostic test for FA relies on the increased chromosomal breakage and radial formation of FA cells in response to diepoxybutane (DEB) compared with cells from healthy control subjects, 15 , 16 or from patients with other chromosomal instability disorders 17 or genetic syndromes. (ashpublications.org)
  • Heterozygotes for major chromosomal rearrangements such as fusions and fissions are expected to display a high level of sterility due to problems during meiosis. (frontiersin.org)
  • Using a forward genetic screen, we identified the recessive boygirl ( byg ) mutation. (plos.org)
  • The "dominance" model suggests complementation of slightly deleterious recessive alleles in the hybrids, whereas the "overdominance" model indicates that the genes have greater expression when they are heterozygous. (utexas.edu)
  • 7 Early and accurate diagnosis of Fanconi anemia is important, because it profoundly affects patient monitoring and treatment decisions and permits early genetic counseling of family members. (ashpublications.org)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (nih.gov)
  • Heterosis or commonly known as hybrid vigor is evolutionarily defined as that the heterozygotes have higher fitness in a population than the homozygotes. (utexas.edu)
  • The first generation of offspring were all dihybrids, heterozygotes exhibiting the two dominant phenotypes. (jove.com)
  • (U) Statistical representation of observed phenotypes shows Mendelian distribution, with no unspecific phenotypes resulting from the mutagenesis or the genetic background. (sciencematters.io)
  • 19- Zhou B, Gitschier J. hCTRl: a human gene for copper uptake identified by complementation in yeast. (9lib.net)
  • Based on yeast genetic studies, we identify the mitochondrial translation factor MEF2 as a mediator of atorvastatin toxicity. (prolekarniky.cz)
  • There is an open debate about what genes should be tested, and the actionability of some included genes is under research. (cancerindex.org)
  • Genetic analysis has uncovered that genes necessary for epithelial polarity code for cytoskeletal proteins and their regulators, like the par-3 protein Bazooka ( Kuchinke, Grawe & Knust, 1998 ) or the EGF and laminin domains-containing protein Crumbs ( Tepass, Theres & Knust, 1990 ). (peerj.com)
  • This work validates the use of blastocyst complementation as a tool to create novel insight into the function of developmental genes and highlights blastocyst complementation as a potential platform for generating chimeric inner ear cell types that can be transplanted into damaged inner ears to improve hearing. (biomedcentral.com)
  • Evidence is presented that combinations of independent function, quantitative genetic effects, and functional redundancy have preserved the three vegetative profilin genes in the Arabidopsis lineage. (biomedcentral.com)
  • Each of us inherits hundreds of genetic mutations from our parents, as they did from their forebears. (dorak.info)
  • For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (beds.ac.uk)
  • Genetic and cytogenetic studies have revealed the presence of several pairing homoeologous ( Ph ) loci that ensure wheat behaves as a diploid during meiosis, with only homologous chromosomes of the same sub-genome (AA, BB or DD) pairing and recombining. (nature.com)
  • Here, we report characterization of a mutant isolated from a genetic screen in Arabidopsis thalianadesigned to identify plants defective in degradation of an Aux/IAA fusion protein, Aux/IAA1-luciferase (IAA1-LUC). (1library.net)
  • Individual Genetic Variation Might Predict Acute Skin Reactions in Women Undergoing Adjuvant Breast Cancer Radiotherapy. (cancerindex.org)
  • The aim of this study was to explore whether genetic variation might be linked to acute radiation skin reactions (ARSR). (cancerindex.org)
  • Excision repair cross-complementation group 1 (ERCC1) is a key rate-limiting enzyme in the NER pathway. (hindawi.com)
  • 156570). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (277410), cblF (277380), and cblJ (614857). (nih.gov)
  • Hepatic copper metabolism: insights from genetic disease. (9lib.net)
  • The inability to discern a molecular basis for hybrid vigor is partly because F1 hybrids segregate, making it difficult for molecular tests. (utexas.edu)
  • These data reveal a role for MSH7-3D in meiotic stabilisation of allopolyploidy and provides an opportunity to improve wheat's genetic diversity through alien gene introgression, a major bottleneck facing crop improvement. (nature.com)
  • These new FA screening assays would allow efficient testing of broad populations at risk. (ashpublications.org)
  • Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. (academicinfluence.com)
  • This article summarizes recent advances in the clinical characterization of CHS patients, provides updates on promising new testing methods, and focuses on specific therapeutic approaches. (biomedcentral.com)
  • This research is the first to produce induced pluripotent stem cell-derived inner ear sensory neurons in the Neurog1 +/− heterozygote mouse using blastocyst complementation. (biomedcentral.com)
  • Biotechnology - new and sometimes controversial branch of biology that studies the manipulation of living matter, including genetic modification and synthetic biology. (wikipedia.org)
  • Few and small studies have been reported about multigene testing usage by massively parallel sequencing in European cancer families. (cancerindex.org)
  • Overall, these results suggest that tumors are unlikely to arise directly from BRCA2 heterozygous cells without other genetic events such as loss of the wild-type BRCA2 allele and/or loss of p53 function or other cell cycle inhibitors. (ijbs.com)
  • We address these potential limitations by adopting the technique of blastocyst complementation (BC) to generate inner ear neurons from induced pluripotent stem cells (iPSCs). (biomedcentral.com)
  • Additionally, this approach corrected non-sensory deficits associated with Neurog1 heterozygosity, indicating that complementation is specific to endogenous Neurog1 function. (biomedcentral.com)
  • Genetic counseling is important for personal-decision making involving reproductive issues. (dorak.info)
  • However, an important challenge still facing breeders now is the ability to routinely perform DNA-introgression, a process by which distantly related chromosomes exchange genetic information that is passed onto progeny. (nature.com)
  • Important genetic factors have been indicated by familial occurrence and bilateral involvement. (nih.gov)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. (nih.gov)
  • The absence of the monoubiquitinated FANCD2 isoform correlated with the diagnosis of FA by DEB testing in 11 known patients with FA, 37 patients referred for possible FA, and 29 healthy control subjects. (ashpublications.org)