EncodesMeioticMutationsGenomePreferentiallyChromosomeVertebratesUbiquitin ligasePrimarilyLocusTissuesEffectorDevelopmentalDrosophilaGeneticExonPhysiologicalEnzymesExpressionOvarianOccursMutationSynthesisAbsenceSequencesSecondaryVariantsProteinHumansFamilyMoleculesCellsResponsibleVariablePotentialMaleVarietyFoundMethodsSmallNormal functionStructureCellPlaysSimilarImportantSideCarry
Encodes4
- This gene encodes a member of the U-box ubiquitin ligase family. (nih.gov)
- gene which encodes -(1,3)-galactosyltransferase activity (GT31 family) for AGPs, resulted in abnormal primexine development (Suzuki et al. (exposed-skin-care.net)
- The human UBE3A gene encodes an E3 ubiquitin ligase, which exhibits three known protein subtypes ( 1 , 8 ). (spandidos-publications.com)
- In contrast to yeast and vertebrates, which have only two RAD21/REC8 genes, the rice genome encodes four Rad21/Rec8 proteins. (jipb.net)
Meiotic4
- Here, we show that truncation of the KRAB domain of mouse PRDM9 leads to loss of PRDM9 function and altered meiotic prophase and gametogenesis. (springer.com)
- In Saccharomyces cerevisiae , meiotic DSBs preferentially occur at nucleosome-depleted regions in gene promoters (Ohta et al. (springer.com)
- Rare mutations have been described in genes involved in ovarian development and/or function such as FSHR (MIM 136435), LHCGR (MIM 152790), BMP15 (MIM 300247), POF1B (MIM 300603), NOBOX (MIM 610934), INHA (MIM 147380), GDF9 (MIM 601918), NR5A1 (MIM 184757), and FIGLA (MIM 608697) and in meiotic genes [ 9 - 23 ]. (hindawi.com)
- Rad21 and its meiotic counterpart Rec8, the key components of the cohesin complex, are essential for sister chromatid cohesion and chromosome segregation in mitosis and meiosis, respectively. (jipb.net)
Mutations4
- Nevertheless, mutations in these genes account for a minority of cases of ovarian dysfunction, indicating that additional factors remain to be identified. (hindawi.com)
- Relevant large fragments of mutations and methylation abnormalities were not found in the associated genes. (spandidos-publications.com)
- The data further revealed absence of 25‑bp repeat mutations at the shear mutation site of exon 1 of the small nuclear ribonucleoprotein polypeptide N gene in the subjects examined. (spandidos-publications.com)
- In SM, which is the dominant means of secondary alteration of variable region gene sequences in humans and mice, mutations are introduced in the Ig variable region genes at a tremendous rate, which allows for evolution of high affinity antibodies ( 2 ). (silverchair.com)
Genome1
- supports the concept that metabolic reprogramming, inflammation, and genome instability (including epige- netic changes) underlie many of the other hal marks and foster multiple hallmark functions. (who.int)
Preferentially2
- Members of the evolutionarily conserved Nanos gene family are preferentially expressed in the ovaries and are known to play an important role in germ cell development, maintenance, and survival [ 24 - 30 ]. (hindawi.com)
- Semi-quantitative reverse transcription-polymerase chain reaction revealed OsRAD21-2 preferentially expressed in premeiotic flowers. (jipb.net)
Chromosome5
- The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. (nih.gov)
- A pseudogene of this gene is located on the long arm of chromosome 3. (nih.gov)
- The loss of the expression of the maternal allele of the UBE3A gene is typically associated with the four following mechanisms: Deletion at the 15q11.2-q13 locus, UBE3A functional loss variation, presence of paternal parthenogenetic double chromosome or genomic imprinting defect ( 4 ). (spandidos-publications.com)
- The UBE3A gene is located on the 15q11-q13 locus of chromosome 15. (spandidos-publications.com)
- We selected 17 patients clinically and his- is encoded by a single gene located on the tologically proven to be suffering from PV short arm of chromosome 11 [ 6 ]. (who.int)
Vertebrates2
- This review charts the twists and turns on the road to developing gene drives in vertebrates. (mdpi.com)
- In some vertebrates, such as chickens and pigs, diversification of assembled Ig variable regions occurs by a gene conversion mechanism rather than SM ( 3 ). (silverchair.com)
Ubiquitin ligase1
- Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. (nih.gov)
Primarily2
- Three Nanos homologues exist in mouse, with Nanos2 and Nanos3 functioning primarily in male germ cell development and maintaining PGCs viability, respectively [ 33 , 34 ]. (hindawi.com)
- The various characteristics of AS are primarily caused by maternal allele dysfunction of the UBE3A gene and paternal imprinting ( 5 ). (spandidos-publications.com)
Locus1
- In CSR, to diversify the effector function of specific antibodies, recombination occurs within the downstream portion of the IgH locus to join variable region genes with different constant (C H ) region genes ( 4 ). (silverchair.com)
Tissues3
- The cornea is one of the most transparent and non-vascularized tissues in the human body, and several active genes [ 1 , 2 ] are thought to be involved in maintaining the homeostasis of the cornea. (molvis.org)
- In normal brain tissues, the maternal UBE3A gene is actively expressed, whereas the paternal UBE3A gene is not. (spandidos-publications.com)
- In normal brain tissues, the maternally inherited UBE3A allele is actively expressed ( 7 ), while the paternally inherited UBE3A gene is not. (spandidos-publications.com)
Effector1
- Later in B cell development, usually after antigen-dependent activation of B cells, the genetic alteration processes of somatic mutation (SM), class switch recombination (CSR), and gene conversion further diversify the antigen-recognition repertoire as well as the effector function of encoded antibodies. (silverchair.com)
Developmental1
- Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. (nih.gov)
Drosophila3
- Nanos was first identified in Drosophila , where it represses the translation of target mRNAs through binding to their 3′ UTR and has a conserved function in germ cell development across species. (hindawi.com)
- In Drosophila, the single Nanos gene (Nos) is required for development of the abdomen as well as for germ line maintenance [ 31 , 32 ]. (hindawi.com)
- This study aims to understand the function and mechanism of Drosophila Glycine N-acyltransferase (GLYAT) in cell invasion. (sdbonline.org)
Genetic4
- For genetic analysis, peripheral blood was obtained from the patient and her sister. (molvis.org)
- The named and biochemical disorders may or may not have been caused by their initially described genetic variation, but potentially by other gene variations. (medlink.com)
- Among the various genetic metabolic disorders, Angelman syndrome (AS) has attracted considerable attention due to the abnormal expression of the ubiquitin-protein ligase E3A (UBE3A) gene ( 1 ). (spandidos-publications.com)
- To diversify the coding potential of the Ig genes, B cells undergo several processes of regulated genetic alterations. (silverchair.com)
Exon1
- Sequence analysis revealed that the patient has a heterozygous c.4166_4169delAAGT mutation located at exon 24 of the PIKFYVE gene that may cause p.Glu1389AspfsX16 flame-shift mutation, which has never before been reported for FCD. (molvis.org)
Physiological2
- AOXs and PUMPs exert similar physiological functions during homeothermic heat production in thermogenic plants. (jipb.net)
- Our findings describe a novel bone cancer pain mechanism and provide a new insight into the physiological and pathological functions of GM-CSF.It has been reported that GM-CSF plays a key role in bone cancer pain, yet the underlying mechanisms involved in GM-CSF-mediated signaling pathway in nociceptors is not fully understood. (iasp-pain.org)
Enzymes3
- Then biochemical assays such as oxidative phosphorylation activity by respiratory chain enzymes were used to characterize enzyme disorders (eg, complex 1 or complex 3 deficiencies). (medlink.com)
- The study of CylC-like enzymes will provide insights into substrate scope, mechanism and catalytic partners, and will also enable engineering these biocatalysts for similar or additional C-H activating functions. (biomedcentral.com)
- While we found non-cyanobacterial homologs of these enzymes to be rare, we identified a large number of genes encoding CylC-like enzymes in publicly available cyanobacterial genomes and in our in-house culture collection of cyanobacteria. (biomedcentral.com)
Expression5
- UBE3A is the only gene in the 15q11-q13 region that indicates biased expression from the maternal allele ( 6 ). (spandidos-publications.com)
- The expression levels of these genes are tissue-specific and depend on the origin of the parent. (spandidos-publications.com)
- SYI-3.B.1 Environmental factors influence gene expression and can lead to phenotypic plasticity. (5y1.org)
- Neonates exhibited enhanced prostate growth after 4-MBC and altered uterine gene expression after both filters. (researchgate.net)
- Expression and estrogen sensitivity of target genes and nuclear receptor coregulators were altered at mRNA and protein levels in adult uterus, prostate and brain. (researchgate.net)
Ovarian3
- There was no apparent difference in return of ovarian function between the eight fresh ovarian grafts and the one frozen graft. (infertile.com)
- Ovarian transplantation appears to restore ovulatory function robustly. (infertile.com)
- It was remarkable, therefore, to identify a MZ twin pair in which one sister had undergone menopause for unexplained reasons at age 14 years, whereas the other, aged 24, was still fertile with three naturally conceived children, as well as normal ovulatory cycles and ovarian reserve (Silber et al. (infertile.com)
Occurs1
- 2. o. that occurs during function. (theodora.com)
Mutation5
- The purpose of this study is to report a novel mutation of the PIKFYVE gene in a Japanese patient with fleck corneal dystrophy. (molvis.org)
- DNA was extracted from the blood and subjected to mutation analysis by sequencing of the PIKFYVE gene. (molvis.org)
- In this study, we report a case of FCD bearing a heterozygous flame-shift mutation within the phosphoinositide kinase, FYVE finger containing ( PIKFYVE ) gene. (molvis.org)
- A homozygous p.Glu120Lys mutation in NANOS3 was identified in two sisters with primary amenorrhea. (hindawi.com)
- 74-88) shows that mutation of an ATP Binding Cassette (ABC) transporter gene, WBC27, in arabidopsis led to reduced sporopollenin autofluorescence in pollen grains, as compared with the strong autofluorescence in wild-type pollen grains (cover picture). (jipb.net)
Synthesis2
- 2021). Out of the 25 known glycosyltransferases (GTs) involved in the synthesis of type-II AGs, eight hydroxyproline-genes. (exposed-skin-care.net)
- Smooth ER functions include detoxification and lipid synthesis. (5y1.org)
Absence1
- Severe combined immune deficiency (SCID) is a life-threatening primary immunodeficiency (PI), with a combined absence of T cell and B cell function. (primaryimmune.org)
Sequences1
- In gene conversion, the assembled variable region sequences are altered via homologous recombination using other unrearranged variable region genes or pseudogenes as templates. (silverchair.com)
Secondary1
- Homologs of CylC are also found in other characterized cyanobacterial secondary metabolite biosynthetic gene clusters. (biomedcentral.com)
Variants1
- Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (nih.gov)
Protein3
- Reducing equivalents produced in the Krebs cycle and in the beta-oxidation spirals are passed along a series of protein complexes embedded in the inner mitochondrial membrane (the electron transport chain). (medlink.com)
- The RNA-binding protein NANOS3 poses as an interesting candidate gene for POI since members of the Nanos family have an evolutionarily conserved function in germ cell development and maintenance by repressing apoptosis. (hindawi.com)
- Non-synonymous vs. synonymous substitution rate ratios suggested purifying selection to act on specifier protein genes. (biomedcentral.com)
Humans2
- Evidence for transdermal passage and presence in the food chain (fish) suggests potential exposure of humans during development. (researchgate.net)
- chain (fish) suggests potential exposure of humans during development. (researchgate.net)
Family1
- 2017). Furthermore, CRISPR/Cas9 mutants in the genes (GT14 family), which encode GlcA transferase activity for AGPs, produced plants having reduced yields due to the intine and exine defects in the mature pollen grains (Zhang et al. (exposed-skin-care.net)
Molecules1
- Most of these play very important roles in shaping the structure and function of different functional RNA molecules. (wikiversity.org)
Cells1
- However, there are rare types of SCID where some T cells develop but don't function well that may not be detected by the newborn screening test. (primaryimmune.org)
Responsible2
- The phosphoinositide kinase, FYVE finger containing ( PIKFYVE ) gene has been identified as a gene responsible for fleck corneal dystrophy (FCD). (molvis.org)
- The multiplex ligation‑dependent probe amplification project of the Angel/chubby and copy number variation (CNV) sequencing were assessed concomitantly to identify the pathogenic genes responsible for the development of AS. (spandidos-publications.com)
Variable1
- Glucosinolates are amino acid-derived thioglucosides with a sulfated aldoxime moiety and variable side chains (Figure 1 A) that are present in the Brassicales [ 11 - 13 ]. (biomedcentral.com)
Potential1
- The realisation of robust gene drive strategies in vertebrate pests has the potential to revolutionise biocontrol. (mdpi.com)
Male1
- Taken together, our data illustrate the importance of type-II AGs in male reproductive function for successful fertilization. (exposed-skin-care.net)
Variety1
- Now, a variety of genes that cause mitochondrial disease have been discovered. (medlink.com)
Found1
- This dissertation focuses on the events found in The Shadow of the Torturer while addressing other novels in Gene Wolfe's greater Solar Cycle when relevant. (lu.se)
Methods1
- Methods for UV filter analysis followed the principles of European standardized methods for pesticide residue analysis (EN 15289). (researchgate.net)
Small1
- The electron transport chain consists of 4 multimeric complexes (I to IV) plus 2 small electron carriers, coenzyme Q10 (or ubiquinone) and cytochrome c . (medlink.com)
Normal function2
- Therefore, UBE3A is considered an important factor involved in maintaining the normal function of the synapses ( 10 ). (spandidos-publications.com)
- afunctional o. a malocclusion that does not permit normal function of the dentition. (theodora.com)
Structure2
- SYI 1.B.2 Structure and function of polymers are derived from the way their monomers are assembled, d. (5y1.org)
- I can describe the structure and function of the rough/smooth ER, Golgi Apparatus and Lysosomes in a cell.AP Bio AP Bio SYI-1- Living systems are organized in a hierarchy of structural levels that interact.SYI-1.F Describe the structural features of a cell that allow organisms to capture, store, and use energySYI-1.F.2 Within the chloroplast are thylakoids and the stroma. (5y1.org)
Cell1
- Our results suggest that OsRad21-2 functions in regulation of cell division and growth. (jipb.net)
Plays1
- The UBE3A gene plays a regulatory role on the function of specific monoamine transmitters, which are associated with the dynamics of synaptic plasticity. (spandidos-publications.com)
Similar1
- It was interesting to note that her 15‑year‑old sister exhibited similar clinical manifestations to those of AS. (spandidos-publications.com)
Important1
- This study demonstrated that the Receptor for Activated C-Kinase 1 (RACK1) is important in SC function. (sdbonline.org)
Side2
- The healthcare system is failing the world over [3, 4] ( The Depressing Side of Medical Science , Why the Planet is Sick , SiS 39). (i-sis.org.uk)
- B . Using allylglucosinolate ( 4 , aliphatic side chain with terminal double bond) as an example, the hydrolysis by myrosinase ( a ) is shown that leads to the formation of an isothiocyanate upon spontaneous rearrangement of the aglycone ( b ) or to the formation of alternative products ( c - e ). (biomedcentral.com)
Carry1
- [18] [19] The mitochondrion is composed of compartments that carry out specialized functions. (wikipedia.org)