• The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. (wikipedia.org)
  • Head specification by the head -selector gene, orthodenticle (otx), is highly conserved among bilaterian lineages. (xenbase.org)
  • The Distal-less (Dlx) family is composed of six members, Dlx1-Dlx6, and they have a highly conserved homeobox domain related to that of Distal-less (Dll) in Drosophila ( Panganiban and Rubenstein, 2002 ). (molcells.org)
  • Mouse genetics have spotlighted many mutations affecting this process, and a wealth of embryologic information from experimental manipulations in chick has uncovered a network of inductive tissue interactions, providing a rich conceptual framework for molecular analysis. (nih.gov)
  • Homeobox C12 is a protein that in humans is encoded by the HOXC12 gene. (wikipedia.org)
  • Limb development is a particularly attractive model for unraveling the function and interaction of such regulatory components, because it is very accessible to study and is extremely well conserved between genetic (mouse) and embryologic (chick) model organisms and humans. (nih.gov)
  • Loss-of-function mutation in the zinc finger homeobox 3 gene (ZFHX3) is associated with increased risk of AF. (tmu.edu.tw)
  • This spacer and the putative promoter 600 bp upstream from the hsa‐miR‐200c stem-loop contain six putative binding sequences for [zinc‐finger E‐box binding homeobox 1] ZEB1, two of which were restricted to ZEB factors (Z‐box 1 and 2, CAGGTA). (wikiversity.org)
  • In vivo SIP1, or Zinc finger E-box-binding homeobox 2 (ZEB2), binds "to potential SIP1-binding sites (Z-boxes) located in the vicinity of the cyclin D1 transcription start site. (wikiversity.org)
  • The three genes, HESX1 , OTX2 , and SOX2 , all play important roles in embryonic development. (medlineplus.gov)
  • Our previous studies focused on how mutations in neural genes during embryonic brain development can impact autistic-like behaviors during postnatal life. (unitn.it)
  • My lab previously identified several transcription factors (homeobox genes and T-box genes) involved in formation and patterning of both the primary embryonic axis and the limb axis in vertebrates. (nih.gov)
  • In vivo dissection of Otx1 and Otx2 roles in brain development by using reciprocal knock-in mouse models: definition of extended functional equivalence between OTX1 and OTX2 proteins and the relevance of the Otx1 and Otx2 differential transcriptional control. (cnr.it)
  • And, as I have stated before, and as countless ID proponents have insisted every time they are asked about gene duplication as it relates to the origins of new proteins, the ID party line is that this is not a change in information. (uncommondescent.com)
  • These proteins all contain two zinc fingers and four homeodomains, suggesting that they function as regulators of gene expression. (uky.edu)
  • Genes whose proteins are predicted to be secreted but were previously unknown to be significantly expressed in early oogenesis were downregulated in Nobox knockouts and included astacin-like metalloendopeptidase (Astl), Jagged 1 (Jag1), oocyte-secreted protein 1 (Oosp1), fetuin beta (Fetub), and R-spondin 2 (Rspo2). (appliedbioinfo.com)
  • 2004). Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1. (uh.edu)
  • Acute myeloid leukemia bearing cytoplasmic nucleophosmin (NPMc+ AML) shows a distinct gene expression profile characterized by up-regulation of genes involved in stem-cell maintenance. (nature.com)
  • microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. (appliedbioinfo.com)
  • Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. (wikipedia.org)
  • This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. (wikipedia.org)
  • Pcsk5 mutation results in abnormal expression of several paralogous Hox genes (Hoxa, Hoxc, and Hoxd), and of Mnx1 (Hlxb9). (ox.ac.uk)
  • Role of Otx1 and Otx2 in brain evolution: functional equivalence between the invertebrate Orthodenticle and the murine OTX1 and OTX2 gene products supports a conserved genetic program of brain development between insects and mammals. (cnr.it)
  • NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities: a comparative analysis of 2562 patients with acute myeloid leukemia. (nature.com)
  • Genetic factors are the main risk factors for NCPs, but environmental factors and abnormal gene-environment interactions can also lead to the development of NCPs. (chinagene.cn)
  • Very high frequency of novel mutations (42%) in our study population, supports that in heterogenous disorders like MODY sequence analysis provides rapid, cost effective and accurate genetic diagnosis. (degruyter.com)
  • Identifying the direct target promoters of developmental gene-regulators will be critical to understand how these regulators function and to link regulatory cascades in developmental genetic programs to the basic cellular processes that drive morphogenesis of anatomic structures. (nih.gov)
  • Finally, we review the classes of genes that have been linked to autism in recent genetic studies and discuss several candidate genes in the context of this neurodevelopmental hypothesis. (neurotransmitter.net)
  • Why do some mutations manifest later in life even though the genetic change was present at birth? (nih.gov)
  • Can we find common cellular pathways associated with photoreceptor cell death caused by distinct genetic mutations? (nih.gov)
  • Genetic transfer of the wobbler gene to a C57BL/6J x NZB hybrid stock: natural history of the motor neuron disease and response to CNTF and BDNF cotreatment. (uni-bielefeld.de)
  • The Alberti lab is working to better understand the genetic and molecular basis of splicing factor gene mutations in the initiation, development, and progression of clonal hematopoiesis and myeloid malignancies, such as myelodysplastic syndromes (MDS). (cuanschutz.edu)
  • OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information. (appliedbioinfo.com)
  • Methods: We performed small RNA deep sequencing on ZFHX3-KD and control HL-1 mouse atrial myocytes. (tmu.edu.tw)
  • The effect of miRNAs on ZFHX3-dependent atrial arrhythmia was evaluated through in vitro and in vivo assays in mice. (tmu.edu.tw)
  • Treatment with miR-133a/b mimics diminished ZFHX3 KD-induced atrial ectopy in mice. (tmu.edu.tw)
  • This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. (nih.gov)
  • We have mapped one gene for WS to the distal part of chromosome 2. (nih.gov)
  • A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). (diabetesjournals.org)
  • It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene. (diabetesjournals.org)
  • Despite considerable ongoing effort toward the identification of chromosome regions affected in autism and the characterization of many potential gene candidates, only a few genes have been reproducibly shown to display specific mutations that segregate with autism, likely because of the complex polygenic nature of this syndrome. (neurotransmitter.net)
  • Exclusion of two candidate genes, Spnb-2 and Dcd, for the wobbler spinal muscular atrophy gene on proximal mouse chromosome 11. (uni-bielefeld.de)
  • Gene Chromosome Canc. (thedeshpandelab.com)
  • The normal genomic sequences for the human HoxA10, -A11, and -D11 genes were then determined and sequenced in 10 unrelated individuals with TAR syndrome. (uky.edu)
  • 2004). VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. (uh.edu)
  • For example, targeted disruptions of these Hox genes result in abnormal development of the mouse radius, while over-expression of HoxA10 stimulates mouse megakaryocyte (MK) development in vitro. (uky.edu)
  • Thus, understanding how normal transcription programs are regulated during development may also help to decipher abnormal gene expression patterns in tumors and devise new strategies to intercept cellular targets driving tumor cell behavior. (nih.gov)
  • Tbx20 physically interacted with cardiac transcription factors Nkx2-5, GATA4, and GATA5, collaborating to synergistically activate cardiac gene expression. (nih.gov)
  • In Xenopus embryos, enforced expression of Tbx20a, but not Tbx20b, led to induction of mesodermal and endodermal lineage markers as well as cell migration, indicating that the long Tbx20a isoform uniquely bears functional domains that can alter gene expression and developmental behaviour in an in vivo context. (nih.gov)
  • 2003). Expression of vesicular glutamate transporter 1 in the mouse retina reveals temporal ordering in development of rod vs. cone and ON vs. OFF circuits. (uh.edu)
  • 2003). Differential distribution and developmental expression of synaptic vesicle protein 2 isoforms in the mouse retina. (uh.edu)
  • Furthermore, external acid environment triggered expression of the GFP reporter gene fused downstream of the cdx 2 intestinal homeogene regulatory sequences in P3E6 transfected cells. (silverchair.com)
  • Expression analysis of several Hox genes in human embryos. (cnr.it)
  • Molecular mechanism controlling the expression of the HOX Complex gene family in human teratocarcinoma cells (N-tera2/D1). (cnr.it)
  • Isolation of the murine homologs of the otd and ems homeobox containing genes and analysis of their expression during brain development. (cnr.it)
  • Isolation and expression analysis both in invertebrate and vertebrate embryos of a new homeobox containing gene named Orthopedia (Otp). (cnr.it)
  • Isolation and expression analysis in murine embryos of Dlx5 and Dlx6, two murine homologues of the Drosophila Distal-less gene. (cnr.it)
  • To examine the expression of Hox genes in human MK cells, we utilized reverse transcription polymerase chain reaction with degenerate oligo-nucleotides to study megakaryocytic cell lines (MEG-01, DAMI), and primary human MK purified from adult and cord blood. (uky.edu)
  • Although these studies cannot completely exclude the possibility that the TAR syndrome results from non-coding mutations that affect the level of Hox gene expression in megakaryocytes, mutations in the coding sequence of the Hox genes known to affect radial development are not a common cause of TAR syndrome. (uky.edu)
  • The expression and significance of the HOXA7 gene in oral squamous cell carcinoma. (nih.gov)
  • These findings attribute a novel biological role to expressed pseudogenes, as they can regulate coding gene expression, and reveal a non-coding function for mRNAs. (uncommondescent.com)
  • We are analyzing the normal developmental function of early transcription factors that regulate digit patterning (Gli3, 5'Hoxd), with the long-term aim of linking regulatory cascades and patterned gene expression to the morphogenesis of specific structures. (nih.gov)
  • To directly test this model of Shh function, we have restored cell survival in Shh mutant embryos after transient Shh expression by concomitant removal of the pro-apoptotic genes Bak/Bax to intercept cell death, in order to rescue the proposed late Shh role. (nih.gov)
  • NRL interacts with homeodomain protein CRX and numerous other regulatory factors to control expression of most rod-expressed genes. (nih.gov)
  • How do numerous non-coding variations in the human genome affect gene expression in the retina? (nih.gov)
  • Mouse strain-specific differences in adult liver Elovl3 mRNA levels and transgenic mouse data indicate that Zhx2 activates Elovl3 expression in the female adult liver. (uky.edu)
  • KEGG pathway overrepresentation analysis of digital gene expression in order yasmin online Escherichia coli. (eviematilda.art)
  • Expression of order yasmin online irradiation responsive genes independently (Table 2). (eviematilda.art)
  • Co-expression of these genes in X. tropicalis early gastrula embryos was shown with in situ hybridization using hemisections. (xenbase.org)
  • Silencing the expression of the double homeobox 4 ( DUX4 ) gene offers great potential for the treatment of facioscapulohumeral muscular dystrophy (FSHD). (mdpi.com)
  • We hypothesized that lack of Nobox perturbs global expression of genes preferentially expressed in oocytes as well as microRNAs. (appliedbioinfo.com)
  • Our findings indicate that Nobox is likely an activator of oocyte-specific gene expression and suggest that the oocyte plays an important role in suppressing expression of male-determining genes, such as Dmrt1. (appliedbioinfo.com)
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
  • Among those, several candidate genes have been shown to control the early patterning and/or the late synaptic maturation of specific neuronal subpopulations controlling the balance between excitation and inhibition in the developing cortex and cerebellum. (neurotransmitter.net)
  • Those studies used mice lacking serotonergic neurons resulting from the loss of function mutations in the gene encoding the LIM homeobox transcription factor 1 ( Lmx1b ). (aspetjournals.org)
  • Isolation and characterization of alternative messenger RNAs coding class I HLA genes. (cnr.it)
  • Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library. (uni-bielefeld.de)
  • We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation. (ox.ac.uk)
  • Recently, we have focused on the role of Shh/Gli3 and 5'Hoxd genes in regulating several aspects of limb development, including early digit patterning, as well as condensation and differentiation of cartilage precursors during final morphogenesis of the limb skeleton. (nih.gov)
  • Using the limb as a model for vertebrate organogenesis, we deleted Shh at different developmental times in genetically engineered mice with a conditional, floxed-Shh gene and inducible Cre to determine the temporal requirements for Shh during limb development. (nih.gov)
  • We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. (ox.ac.uk)
  • On the basis of their homologous chromosomal location, their close linkage to an alkaline phosphatase gene, and their related phenotype, we suggested that WS and the mouse mutant Splotch might be homologous. (nih.gov)
  • Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice. (cdc.gov)
  • Acute myeloid leukemia (AML) is a molecularly diverse malignancy with a poor prognosis whose largest subgroup is characterized by somatic mutations in NPM1 , which encodes nucleophosmin 1 . (nature.com)
  • These findings demonstrate that chronic exposure of esophageal keratinocytes to acid pH induces transcription of cdx 2, an intestinal specific homeobox gene known to play a critical role in the differentiation and maintenance of intestinal epithelial functions. (silverchair.com)
  • Second, networks of genes and hormones regulate the advancement of sex determination and gonad differentiation, known as the gonadal sex phase. (lidsen.com)
  • For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. (nih.gov)
  • In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. (nih.gov)
  • 2003). Differential distribution of vesicle associated membrane protein isoforms in the mouse retina. (uh.edu)
  • Protein-binding microarray helped identify nucleotide motifs that NOBOX binds and that several downregulated genes contain within putative promoter regions. (appliedbioinfo.com)
  • Acute Myeloid Leukemia Driven by the CALM-AF10 Fusion Gene is Dependent on BMI1 Exp Hematol. (thedeshpandelab.com)
  • Thus mutations in the Pax genes are important causes of human developmental defects. (nih.gov)
  • We extensively studied mice lacking the homeobox-containing gene Engrailed-2, showing that these mice have anatomical and molecular defects of GABAergic interneurons, leading to impaired social and cognitive behaviors. (unitn.it)
  • In Shank3 and Cntnap2 mutant mice, we study the neural substrates of sensory deficits using a multidisciplinary approach including neuroanatomical, molecular, and behavioral studies. (unitn.it)
  • This is the first study including molecular studies of 11 MODY genes in Turkish children. (degruyter.com)
  • Using these devices, Otx2 and other head organizer TFs (for example, Lim1/Lhx1 (activator) or Goosecoid (repressor)) are able to upregulate or downregulate a large battery of target genes in the head organizer . (xenbase.org)
  • Although this level of plasticity is still found in the fully differentiated gonads, errors like mutations or epigenetic modifications impact ovarian development and, later, folliculogenesis, resulting in infertility. (lidsen.com)
  • The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER. (mousephenotype.org)
  • No human diseases associated to this gene by orthology or annotation . (mousephenotype.org)
  • Isolation and identification of the structural organization of the human homeobox gene family (HOX Complex). (cnr.it)
  • Here we show that some families with WS have mutations in the human homologue of Pax-3. (nih.gov)
  • Three of the 4 potential repressive elements were conserved between mouse and human, indicating their functional relevance. (wikiversity.org)
  • Our investigations utilize in vivo mouse retina and human retinal organoids derived from pluripotent stem cells as study systems. (nih.gov)
  • Transgenes with a GGAA mutation (similar to the G-A human mutation) are more active in the adult liver. (uky.edu)
  • The human microbiome is altered in aging mice. (eviematilda.art)
  • The Zhx2 gene was originally characterized in our lab based on its ability to control the developmental repression of several hepatic genes, including AFP (PNAS, 102:401). (uky.edu)
  • The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
  • Our current research aims to characterize the behavioral outcomes of single gene mutations that are responsible of syndromic autism, such as Shank3 and Cntnap2. (unitn.it)
  • Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. (cdc.gov)
  • This overlapping HNF1/NFI site is conserved in other mammals, including mice. (uky.edu)
  • Mutations] (mut) of the Z‐boxes render the promoter less sensitive to suppression by ZEB1. (wikiversity.org)
  • Transient co-transfections in Hep3B hepatoma cells indicate that HNF1 activates while NFI represses the mouse AFP promoter. (uky.edu)
  • We discovered that 28 (74%) of 38 of the genes downregulated more than 5-fold in the absence of Nobox were preferentially expressed in oocytes, whereas only 5 (15%) of 33 genes upregulated more than 5-fold in the absence of Nobox were preferentially expressed in oocytes. (appliedbioinfo.com)
  • One third of mice developed delayed-onset AML, suggesting a requirement for cooperating mutations. (nature.com)
  • VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. (ox.ac.uk)
  • Recent studies have suggested the HoxA10, HoxA11 and HoxD11 homeobox genes as candidate loci for the thrombocytopenia with absent radius (TAR) syndrome. (uky.edu)
  • In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. (lidsen.com)
  • Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia. (uni-bielefeld.de)
  • Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing. (degruyter.com)
  • Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. (degruyter.com)
  • More importantly, we used mice deficient in the gene encoding tryptophan hydroxylase 2 ( Tph2 ), which could not synthesize 5-HT in the brain. (aspetjournals.org)
  • Electroencephalographic (EEG) recording also showed decreased sleep in Tph2 -deficient mice. (aspetjournals.org)
  • In addition, pluripotency-associated genes Pou5f1 and Sall4 are drastically downregulated in Nobox-deficient ovaries, whereas testes-determining gene Dmrt1 is overexpressed. (appliedbioinfo.com)
  • Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. (medlineplus.gov)
  • To explore mechanisms whereby Malpighian keratinocytes can transdifferentiate into an intestinal-like epithelium, as observed in the early steps of Barrett's esophagus (BE) development, long-standing cultures of esophageal keratinocytes derived from normal mouse esophageal explants were developed. (silverchair.com)
  • The development of the gonadal and reproductive tract (uterus and vagina in females, and seminal vesicles, prostate glands, and penis in males) starts around E10.5 in mice, and they are almost completely developed at birth. (lidsen.com)
  • The large majority of the early embryologists thought that the genes played only a minor role in development, for example by determining eye color, and that development is rather controlled by tissue interactions. (balzan.org)
  • By analyzing lethal mutations in the fruit fly Drosophila Hadorn accumulated evidence that genes control development to a large extent and that they determine the body plan in great detail. (balzan.org)
  • In this review, we highlighted some of the main gene networks and regulatory mechanisms involved in the plasticity of sex-determining pathways that help to establish a functional ovary that can nurture the follicles to generate a good ovarian reserve, both in quantity and quality. (lidsen.com)
  • The sequences of two sponge genomes provide evidence that the ParaHox developmental genes are older than previously thought. (natureasia.com)
  • Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. (degruyter.com)
  • A panel of 11 MODY genes were screened in 43 children with MODY diagnosed by clinical criterias. (degruyter.com)
  • We also identified recurrent integrations in known and newly discovered leukemia genes including Nf1, Bach2, Dleu2 and Nup98 . (nature.com)
  • Zeevi D, Korem T, Zmora N, Israeli D, Rothschild D, Weinberger B, Grubeck-Loebenstein B. The aging of the microbiome can decrease life span of male mice. (eviematilda.art)
  • J male mice: effects of numerous host and environmental factors. (eviematilda.art)