• Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. (beds.ac.uk)
  • As a scientist she has been involved in mapping the human genome and identifying genes and mutations, which give rise to heritable disorders. (bepress.com)
  • Mutations in the gene for the antennapedia homeodomain protein are associated with the conversion of antenna to leg or leg to antenna DROSOPHILA. (lookformedical.com)
  • Their sequences contain a 180 nucleotide sequence designated the homeobox, so called because mutations of these genes often results in homeotic transformations, in which one body structure replaces another. (lookformedical.com)
  • Gene therapy has been utilized successfully to repair or inactivate mutations in animal models of monogenic human diseases 19 as well as human in vitro cells 12 . (nature.com)
  • Mutations in this gene are associated with type 1 elliptocytosis (EL1). (cancerindex.org)
  • 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)
  • Nevertheless, mutations in these genes account for a minority of cases of ovarian dysfunction, indicating that additional factors remain to be identified. (hindawi.com)
  • In addition we also find that there is a significant enrichment of genes annotated for disease-causing mutations in the OMIM database, suggesting that in complex diseases such as SLE, such mutations may be involved in subtle or combined phenotypes or could accelerate specific organ abnormalities found in the disease. (frontiersin.org)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • Visual acuity (VA) in children with LCA varies significantly among patients with differing gene mutations and can be as low as no light perception (NLP). (aao.org)
  • Delineation and characterisation of mutations in the factor IX gene of haemophilia B patients. (edu.au)
  • Analysis of the pattern of germline mutations, mutation rates and evolutionary conservation in humans by population-based molecular genetic studies. (edu.au)
  • which means both copies of the gene in each cell have mutations. (medlineplus.gov)
  • Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes. (medscape.com)
  • There are a myriad of mutations identified in genes encoding cardiac transcription factors, ion channels, gap junctions, energy metabolism regulators, lamins and other structural proteins. (medscape.com)
  • Paired related homeobox 1 is a protein that in humans is encoded by the PRRX1 gene. (wikipedia.org)
  • The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. (wikipedia.org)
  • The protein functions as a transcription coactivator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. (wikipedia.org)
  • A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I". Genes Dev. (wikipedia.org)
  • The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. (beds.ac.uk)
  • This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. (nih.gov)
  • In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. (nih.gov)
  • Description of the protein which includes the UniProt Function and the NCBI Gene Summary. (nih.gov)
  • Human recombinant protein fragment corresponding to amino acids 107-257 of human GSC produced in E.coli. (thermofisher.com)
  • The encoded protein acts as a transcription factor and may be autoregulatory. (thermofisher.com)
  • Proliferation was characterized by enrichment in genes involved in basic cellular and metabolic processes (transcription, ribosome biogenesis, translation and protein folding), cellular remodelling and autophagy. (biomedcentral.com)
  • How many mobile elements, simple sequence repeats, or protein kinases are encoded in the genome? (cshlpress.com)
  • How Many Protein-coding Genes Are Present in the Genome? (cshlpress.com)
  • Does Exon Number Correlate with Gene Size or Protein Size? (cshlpress.com)
  • How Many Protein Kinases Are Encoded in the Genome? (cshlpress.com)
  • Full length human recombinant protein of human OTX2 produced in E.coli. (thermofisher.com)
  • OTX2 is a 289 amino acid containing protein encoding a member of the bicoid sub-family of homeodomain-containing transcription factors. (thermofisher.com)
  • Antennapedia homeodomain protein is a homeobox protein involved in limb patterning in ARTHROPODS. (lookformedical.com)
  • The Bcl-2 homology 3 (BH3) domain is crucial for the death-inducing and dimerization properties of pro-apoptotic members of the Bcl-2 protein family, including Bak, Bax, and Bad. (lookformedical.com)
  • NRL interacts with homeodomain protein CRX and numerous other regulatory factors to control expression of most rod-expressed genes. (nih.gov)
  • The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • Vertebrate insulin gene enhancer binding protein isl-1. (embl.de)
  • Isl-1 binds to one of the two cis-acting protein-binding domains of the insulin gene. (embl.de)
  • C. elegans homeobox protein ceh-14. (embl.de)
  • C. elegans homeobox protein unc-97. (embl.de)
  • 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)
  • The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. (ebiocell.com)
  • This gene encodes a protein belonging to the B7 costimulatory protein family. (transcriptionfactor.org)
  • I found that pollywog encodes the zebrafish mitogen activated protein kinase kinase kinase 4 ( map3k4 ) gene and that it acts upstream of p38a MAPK in the YSL. (rice.edu)
  • Using immunohistochemistry, we observed HOXD9 protein expression in human brain tumor tissues, including astrocytomas and glioblastomas. (123dok.net)
  • [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
  • Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
  • For example, the TP53 gene, located on chromosome 17, encodes a 53-kd nuclear protein that functions as a cell cycle checkpoint. (medscape.com)
  • The p19ARF protein, which is encoded by the same locus as p16, also leads to cell cycle arrest by inhibiting the ability of MDM2 to inactivate TP53. (medscape.com)
  • This locus, however, also encodes a protein from an alternative reading frame, designated p19ARF. (medscape.com)
  • Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (medscape.com)
  • PHTF, a novel atypical homeobox gene on chromosome 1p13, is evolutionarily conserved. (nih.gov)
  • Homeobox (HOX) genes encode evolutionarily conserved transcription factors that are essential for embryonic morphogenesis and differentiation [5]. (cancerhugs.com)
  • 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)
  • Studies of spider Hox genes have already provided insights into evolutionarily conserved and derived features of the spider body plan and their genetic basis. (bvsalud.org)
  • Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL). (lookformedical.com)
  • Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism. (lookformedical.com)
  • Hox genes encode crucial developmental regulators that specify segmental identities along the Antero-Posterior (A-P) body axis in the developing embryo of bilaterian species. (biorxiv.org)
  • Hox genes are developmental architects that instruct the formation of various and precise morphologies along the body axes in cnidarian and bilaterian species. (bvsalud.org)
  • In contrast to these highly specific developmental functions, Hox genes encode for proteins that display poorly selective DNA-binding properties in vitro. (bvsalud.org)
  • Next, the importance of embryonic developmental genes such as homeobox and T-box transcription factors are highlighted in conduction system development and function. (medscape.com)
  • Immunohistochemical staining of paraffin-embedded human embryonic brain cortex tissue within the normal limits using anti-OTX2 mouse monoclonal antibody. (thermofisher.com)
  • The identification of an inactivating missense mutation in NANOS3 suggests a mechanism for POI involving increased primordial germ cells (PGCs) apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology. (hindawi.com)
  • I describe the temporal and spatial expression patterns of these genes through embryonic development. (rice.edu)
  • Background: HOX genes encode a family of homeodomain-containing transcription factors involved in the determination of cell fate and identity during embryonic development. (123dok.net)
  • In D. melanogaster , the eight Hox genes are organized in two separate clusters on chromosome 3R: the Antennapedia cluster (ANT-C) and the Bithorax cluster (BX-C). The 350 kb BX-C contains the Ubx, abd-A and Abd-B genes, which specify the identity of the more posterior embryonic parasegments 5 to 14 (PS5 to PS14). (biorxiv.org)
  • The homeobox transcription factor HOXC13 upregulates human papillomavirus E1 gene expression and contributes to viral genome maintenance. (nih.gov)
  • How many genes are in the human genome? (cshlpress.com)
  • Although the human genome has been sequenced, it often can be surprisingly difficult to find answers to seemingly simple questions about its characteristics. (cshlpress.com)
  • This convenient handbook, written in question-and-answer format, allows researchers and teachers alike access to basic facts about the human genome. (cshlpress.com)
  • Using a recent assembly of the human genome sequence, Stewart Scherer has compiled answers to a broad range of questions about the structure and function of the human genome. (cshlpress.com)
  • While at Minnesota, he spent time working at the LBL Human Genome Center. (cshlpress.com)
  • After lecturing on genomics at Caltech in 2004, his efforts have centered on writing about the human genome. (cshlpress.com)
  • Which Genes Are Present in the Mitochondrial Genome? (cshlpress.com)
  • How Are Genes Organized in the Mitochondrial Genome? (cshlpress.com)
  • How Are microRNA Genes Distributed in the Genome? (cshlpress.com)
  • What Is the Size Distribution of snRNA Genes and Related Sequences in the Genome? (cshlpress.com)
  • Which Types of Proteases Are Found in the Human Genome? (cshlpress.com)
  • Ploidy and MYCN amplification have been used as genetic markers for risk stratification and therapeutic decision making, and, more recently, gene expression profiling and genome-wide DNA copy number analysis have come into the picture as sensitive and specific tools for assessing prognosis. (biomedcentral.com)
  • The applica tion of new genetic tools also led to the discovery of an important familial neuroblastoma cancer gene, ALK , which is mutated in approximately 8% of sporadic tumors, and genome-wide association studies have unveiled loci with risk alleles for neuroblastoma development. (biomedcentral.com)
  • Lentiviral (LV) vectors of the Retroviridae family show interesting properties for monogenic gene therapy, since they integrate into the host genome and allow long-lasting gene expression 22 . (nature.com)
  • How do numerous non-coding variations in the human genome affect gene expression in the retina? (nih.gov)
  • Genome-wide transcriptional profiling using RNA-Seq revealed few age-related changes in gene expression in muscle and esophagus tissue. (nature.com)
  • Gene expression is a key determinant of cellular phenotype, and genome-wide expression analysis can provide insight into the molecular events underlying complex processes such as aging. (nature.com)
  • In participating UK research institutions, investigators can publish open access in Genome Research, Genes & Development, RNA, and Learning & Memory without article publication charges and all staff can read the entire renowned Cold Spring Harbor journal collection. (cshlpress.com)
  • Molecular characterization of a novel gene family (PHTF) conserved from Drosophila to mammals. (nih.gov)
  • Age-related gene expression profiles of the short-lived model animals Caenorhabditis elegans and Drosophila melanogaster share a common adult-onset expression program of genes involved in mitochondrial metabolism, DNA repair, catabolism, peptidolysis and cellular transport 3 . (nature.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)
  • In Drosophila , the BX-C cluster contains the three most posterior Hox genes, where their collinear activation incorporates progressive replacement of histone modifications, reorganization of 3D chromatin architecture and sequential activation of boundary elements and cis -regulatory regions. (biorxiv.org)
  • Our investigations utilize in vivo mouse retina and human retinal organoids derived from pluripotent stem cells as study systems. (nih.gov)
  • And like an episode of Law and Order in which a suspect showing up in the first 15 minutes can't possibly be the perp, those researchers implicated a gene on chromosome 17. (rickilewis.com)
  • To understand the development of adiposity, it is crucial to identify the genes which expression is associated with adipogenic differentiation. (biomedcentral.com)
  • Proliferation cluster comprised 1028 genes up-regulated from days 3 to 8 of culture meanwhile the differentiation cluster was characterized by 2140 induced genes from days 15 to 21. (biomedcentral.com)
  • On the other hand, the terminal differentiation phase was enriched with genes involved in energy production, lipid and carbohydrate metabolism. (biomedcentral.com)
  • Overall, our study demonstrates the coordinated expression of functionally related genes during proliferation and differentiation of rainbow trout adipocyte cells. (biomedcentral.com)
  • Here we show the differentiation of patient specific iPSCs derived from a patient with SFTPB deficiency into lung organoids with mesenchymal and epithelial cell populations from both the proximal and distal portions of the human lung. (nature.com)
  • Second, networks of genes and hormones regulate the advancement of sex determination and gonad differentiation, known as the gonadal sex phase. (lidsen.com)
  • HOX genes exert pleiotropic functions in many cell types and may control cell proliferation, differentiation, adhesion, and migration [7]. (cancerhugs.com)
  • Latest research claim that HOX genes might play essential jobs in ovarian cancer differentiation [9-11]. (cancerhugs.com)
  • We previously discovered that that Maf-family bZIP transcription factor NRL is critical for rod photoreceptor fate and functional differentiation, and that loss of NRL leads to S-cones instead of rods. (nih.gov)
  • The HOX genes encode a family of homeodomain-containing transcription factors that play important roles in the early embryo, including the establishment of cell and tissue identity, and the regulation of cell proliferation, differentiation, and survival [ 12 ]. (biomedcentral.com)
  • Members of this family have numerous roles, including regulation of cell adhesion, cell differentiation, directed cell motility, intracellular signaling and stabilization of f-actin at the sarcomeric Z-line in muscle. (rice.edu)
  • In contrast, radial nerve showed an unexpected level of complexity with the expression of 3,370 genes significantly altered more than two-fold with age, including genes involved in nerve function, signaling, metabolism, transcriptional regulation and chromatin modification. (nature.com)
  • The reduced expression of genes involved in mitochondrial oxidative respiration occurs in early adulthood, before the onset of functional decline, and more abruptly than a damage-response model would predict, which supports the possibility of programmed age-related transcriptional regulation 3 . (nature.com)
  • a beta-cell-specific transcriptional enhancer found in the insulin gene. (embl.de)
  • Furthermore, we highlight the molecular mechanisms involved the transcriptional repression of specific groups of Hox target genes, and summarize the role of Hox mediated gene silencing in tissue development. (bvsalud.org)
  • Isoform 5a appears to function as a molecular switch that specifies target genes. (nih.gov)
  • Comparing HESC controls with HESCs deficient in SRC-3, gene enrichment analysis of the differentially expressed gene set revealed an overrepresentation of genes involved in chromatin remodeling, cell proliferation/motility, and programmed cell death. (frontiersin.org)
  • Systemic delivery of HTL-001 resulted in improved control of subcutaneous murine and human xenograft tumours and improved survival in a murine orthotopic model. (biomedcentral.com)
  • We previously demonstrated the critical involvement of SRC-2 in murine embryo implantation as well as in human endometrial stromal cell (HESC) decidualization, a cellular transformation process required for trophoblast invasion and ultimately placentation. (frontiersin.org)
  • For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
  • In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
  • This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
  • Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
  • Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
  • Among these genes, HOXA7 was among the HOX genes most overexpressed in ovarian malignancies [12] consistently. (cancerhugs.com)
  • Moreover, during this phase an enrichment in genes involved in the formation of the lipid droplets was evidenced as well as the activation of the thyroid-receptor/retinoic X receptor (TR/RXR) and the peroxisome proliferator activated receptors (PPARs) signalling pathways. (biomedcentral.com)
  • 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)
  • these pathways are also shown to donate to the irregular development of various kinds human being malignancies [20]. (cancerhugs.com)
  • To identify genes, signaling pathways and networks that are controlled by SRC-3 and potentially important for hormone-dependent decidualization, we performed RNA-sequencing on HESCs in which SRC-3 levels were significantly reduced at the time of administering the deciduogenic stimulus. (frontiersin.org)
  • To recognize genes in charge of regulating particular signalling pathways and/or tumorigenic properties that donate to poor scientific outcome, we used a previously released Poor Prognosis Personal (PPS) [3] being a conceptual construction to execute integrative proteogenomic analyses of individual HGSOC tumours. (2011globalhealth.org)
  • 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. (nih.gov)
  • We proven that three HOXA genes previously, HOXA4, HOXA7 and HOXA10, had been overexpressed in serous ovarian adenocarcinomas in comparison with harmless serous tumors or tumors with low malignant potential. (cancerhugs.com)
  • We focus in this review on the ectoderm and mesoderm to highlight new findings and discuss them with regards to established concepts of Hox target gene regulation. (bvsalud.org)
  • TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)
  • Total count of NCBI Gene Reference Into Function hits for target listed in parenthesis, and summary table with links to publications per PMID with the specific text in article that includes the reported target. (nih.gov)
  • Hox genes encode for evolutionary conserved transcription factors that have long fascinated biologists since the observation of the first homeotic transformations in flies. (bvsalud.org)
  • Gene expression profiles in animals that exhibit slow aging or negligible senescence may reveal distinct insight into potential mechanisms involved in long-term maintenance of tissues and healthy aging. (nature.com)
  • Few genes show differential expression with age in tissues (brain, liver and kidney) of naked mole rats and, contrary to other mammals and short-lived model animals, mitochondrial gene expression does not change with age 13 . (nature.com)
  • Gene expression stability during aging was also observed in tissues of the long-lived giant mole-rat ( Fukomys mechowii ) with a maximum lifespan of more than 20 years 14 . (nature.com)
  • We identified 98 candidate genes containing rare variation that in aggregate show association with SLE many of which have recognized immunological function, but also function and expression related to relevant tissues such as the joints, skin, blood or central nervous system. (frontiersin.org)
  • Results: In this study, we found high expression of the HOXD9 gene transcript in glioma cell lines and human glioma tissues by quantitative real-time PCR. (123dok.net)
  • The molecular sequence of this clone aligns with the gene accession number as a point of reference only. (origene.com)
  • Gene symbols, accession ids and various other target identifiers. (nih.gov)
  • Both domains are known to bind DNA and function as regulators of gene transcription. (nih.gov)
  • Homeobox proteins are master regulators of develop-ment and control many cellular processes, including proliferation, apoptosis, cell shape, and cell migration. (123dok.net)
  • Orthologous to human PHTF1 (putative homeodomain transcription factor 1). (nih.gov)
  • Immunohistochemistry-Paraffin: CDP/CUTL1 Antibody (2A10) [H00001523-M01] - Analysis of monoclonal antibody to CUTL1 on formalin-fixed paraffin-embedded human malignant lymphoma, diffuse large B tissue. (novusbio.com)
  • Immunohistochemical analysis of paraffin-embedded Human rectal cancer tissue, using CDX2 Mouse Monoclonal Antibody (EAB13069) at 1:1000 dilution. (ebiocell.com)
  • A second family appeared in the pages of the Journal of Medical Genetics in 2000. (rickilewis.com)
  • Upon completion of a post-doctoral fellowship at Stanford University, Cindy was appointed as a human molecular genetics research associate at the Mayo Clinic. (edu.au)
  • Molecular genetics of human disease. (edu.au)
  • Knowledge derived from human genetics and from experimental studies in engineered animal models has led to the discovery of multiple molecular defects responsible for progressive conduction system diseases. (medscape.com)
  • Many spider Hox genes have not been investigated beyond their mRNA expression patterns, and the role of Hox genes with apparently plesiomorphic or dual functions, like ftz and Hox3 is still unclear. (bvsalud.org)
  • However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. (origene.com)
  • Alternatively spliced transcript variants have been found for this gene. (beds.ac.uk)
  • Alternatively spliced transcript variants encoding different isoforms have been described for this gene. (cancerindex.org)
  • Mammalians have at least 39 HOX genes that are arranged in four clusters termed HOX A, B, C, and D [6]. (cancerhugs.com)
  • These genes are organized in clusters, where their order corresponds to their activity along the body axis, an evolutionary conserved feature known as collinearity. (biorxiv.org)
  • A unique feature of Hox genes in most species is that they are organized in clusters, with their relative genomic position corresponding to their order of expression along the A-P axis ( McGinnis and Krumlauf, 1992 ). (biorxiv.org)
  • We show significant dysregulation of these developmentally crucial genes and specifically that HOX genes A9, A10, C4 and D9 are strong candidates for biomarkers and treatment targets for GBM and GBM cancer stem cells. (biomedcentral.com)
  • The product of this gene may play a role in the development of hair, nail, and filiform papilla. (nih.gov)
  • Epidermal development element receptor (EGFR) is one of the receptor tyrosine kinase (RTK) family members [15]. (cancerhugs.com)
  • Development of comparative physical gene maps for cattle, sheep, goat and deer by fluorescence in situ hybridisation (FISH) using ovine bacterial artificial chromosome (BAC) clones. (edu.au)
  • Microphthalmia may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified. (medlineplus.gov)
  • HOXC-AS2 mediates the proliferation, apoptosis, and migration of non-small cell lung cancer by combining with HOXC13 gene. (nih.gov)
  • The TP53 gene is also capable of stimulating apoptosis of cells containing damaged DNA. (medscape.com)
  • Findings These analyses recognized DNA amplification and overexpression of the transcription element (Activity Dependent Neuroprotector Homeobox) in poorly prognostic tumours. (2011globalhealth.org)
  • Interestingly, we detected a non-canonical inversion of collinear chromatin dynamics at the Abd-B gene, with the active histone domain decreasing in size. (biorxiv.org)
  • The collinear activation of the Hox genes and their cis -regulatory elements is thought to rely on the progressive opening of the chromatin within the BX-C along the A-P axis. (biorxiv.org)
  • This has led to important discoveries, notably on the mechanisms underlying the collinear expression of Hox genes and Hox binding specificity. (bvsalud.org)
  • Evolutionary changes in Hox gene function are believed to be involved in the emergence of the diverse body plans we observe in animals today. (bvsalud.org)
  • To dissect functional hierarchies, we compared chromatin organization in larvae and in cell lines, with a focus on the Abd-B gene. (biorxiv.org)
  • To highlight some adverse reproductive outcomes associated with perturbations at the molecular and cellular levels in human folliculogenesis, two examples, i.e. (lidsen.com)
  • Furthermore, while much is now known about the biology of normal granulosa cells [4], the molecular changes that contribute to human granulosa cell dysfunction remain to be elucidated. (cancerhugs.com)
  • Achievement of final adult height consistent with a child's genetic potential remains the primary therapeutic endpoint for recombinanat human growth hormone (rhGH) therapy in the pediatric population. (medscape.com)
  • We show here that, like SRC-2, SRC-3 is expressed in the epithelial and stromal cellular compartments of the human endometrium during the proliferative and secretory phase of the menstrual cycle as well as in cultured HESCs. (frontiersin.org)
  • The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. (medlineplus.gov)
  • When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns. (medlineplus.gov)
  • Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3). (medscape.com)
  • prx-1 functions cooperatively with another paired-related homeobox gene, prx-2, to maintain cell fates within the craniofacial mesenchyme" (PDF). (wikipedia.org)
  • NBs belong to the subgroup of small round blue cell tumors and can often pose a challenge to the pathologist because of their similarities with lymphomas, rhabdomyosarcomas, the Ewing family of tumors and desmoplastic round cell tumors. (biomedcentral.com)
  • Furthermore, the manifestation of HOX cofactors had been temporally and spatially particular in human being granulosa cells also, which indicated the precise part of HOXA7 in regulating granulose cell function [14]. (cancerhugs.com)
  • We are using state-of-the-art next generation sequencing combined with bioinformatic strategies, and developing stem cell-based approaches for gene therapy and drug discovery. (nih.gov)
  • Rhombotin 1 (RBTN1 or TTG-1) and rhombotin-2 (RBTN2 or TTG-2) are proteins of about 160 amino acids whose genes are disrupted by chromosomal translocations in T-cell leukemia. (embl.de)
  • The HOXD9 gene was highly expressed in a side population (SP) of SK-MG-1 cells that was previously identified as an enriched-cell fraction of glioma cancer stem-like cells. (123dok.net)
  • It is now accepted that rare variants located in different genes could in fact play a more important role in disease susceptibility than common variants ( 4 ). (frontiersin.org)
  • This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. (nih.gov)
  • Which genes are commonly associated with genetic diseases? (cshlpress.com)
  • Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)