Chromosome gene family encode genes homeobox. Medical search. Frequent questions

The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. (nih.gov)
Here we identify recurrent mutations within Wilms tumours that involve the highly conserved YEATS domain of MLLT1 (ENL), a gene known to be involved in transcriptional elongation during early development. (nature.com)
We recently found that the miR-181 family contains four highly conserved mature miR-181s, i.e., miR-181a, miR-181b, miR-181c and miR-181d, which are derived independently from 6 precursors located on 3 different chromosomes. (biomedcentral.com)
Genes that encode highly conserved TRANSCRIPTION FACTORS that control positional identity of cells (BODY PATTERNING) and MORPHOGENESIS throughout development. (lookformedical.com)
The exons encode the α chain, with four kringle structures (highly conserved triple disulfide loop structures), a short spacer region between the α and β chains, and the β chain ( Fig. 1A ) ( 4 - 6 ). (spandidos-publications.com)

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)
In cases with mutations in the HOXB13 gene, the family history of cancer was negative. (biomedcentral.com)
Mutations in some genes cause rare forms of T2DM, giving additional support for the genetic roles in the aetiology of the disease. (scialert.net)
Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. (beds.ac.uk)
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)
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)
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)
Pathogenic mutations in BRCA1 , BRCA2 , TP53 , ATM , CHEK2 , BRIP1 and PALB2 have been associated with an increased breast cancer risk and, together, are found in less than 25% of breast cancer families showing a clear pattern of inheritance (high-risk families) [ 1 ]. (biomedcentral.com)
Multiple mutations affecting embryonic development have been induced by chemical and insertional mutagenesis resulting in the identification of genes with important roles in development in Drosophila [ 23 - 25 ]. (biomedcentral.com)
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the gene associated with cystic fibrosis (CF). Tsui's research pinpointed the gene, some mutations to which cause CF, and it revealed the underlying disease mechanism. (asu.edu)
Mutations in the CFTR gene cause dysfunctional regulation of cell electrolytes and water content. (asu.edu)

This gene belongs to the homeobox family of genes. (nih.gov)
The HOX gene family belongs to the homeobox superfamily of transcription factors. (biomedcentral.com)

Molecular characterization of a novel gene family (PHTF) conserved from Drosophila to mammals. (nih.gov)
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)
Studies in several vertebrate models and Drosophila have uncovered a surprising degree of evolutionary conservation of regulatory mechanisms and genes that control early cardiogenesis. (biologists.com)

and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)
10 Germline variants of IKZF1 are observed in familial B-ALL and immunodeficiency, 16 , 17 and somatic IKZF1 alterations are enriched in Philadelphia chromosome (Ph)-positive, Phlike, and DUX4 -rearranged B-ALL. (haematologica.org)
Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. (antibodypedia.com)
The genes encoding enzymes involved in the process of metabolic activation, detoxification and DNA repair are polymorphic and there are some structural variants of genes in the population associated with different activity of the enzyme they encode. (biomedcentral.com)
Six variants (all identified by WGS) involved MLLT1 , a gene not previously reported to be involved in WT. (nature.com)
First, molecular events in T2DM pathogenesis have been examined directly by testing the role of sequence variants of specific candidate genes. (scialert.net)
The candidate gene approach focuses on the search for an association between T2DM and sequence variants in or near biologically defined candidate genes which have been chosen based on their known physiological function. (scialert.net)
Variants in the SMCHD1 gene on chromosome 18, which encodes a protein known as structural maintenance of chromosomes flexible hinge domain containing 1, have been associated with FSHD2. (arkansasbluecross.com)
On average, de novo variants are associated with larger contractions of D4Z4 compared with the degree of D4Z4 contraction variants observed segregating in families, and individuals with de novo variants tend to have findings at the more severe end of the phenotypic spectrum (Lemmers, 2014). (arkansasbluecross.com)
Alternatively spliced transcript variants have been found for this gene. (beds.ac.uk)
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)
The role of HMT gene variants in prostate cancer remains unknown. (cancerindex.org)

A member of the KNOTTED class of homeodomain proteins encoded by the STM gene of Arabidopsis. (grassius.org)
The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. (beds.ac.uk)
Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL). (lookformedical.com)
The proteins encoded by homeobox genes are called HOMEODOMAIN PROTEINS. (lookformedical.com)

This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. (nih.gov)
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. (antibodypedia.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. (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. (antibodypedia.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)
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 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)
HOX and homeobox genes play an important role in the regulation of many processes including cell proliferation, differentiation, angiogenesis, receptor signaling, apoptosis and regulate transcription of target androgen receptor genes [ 16 ]. (biomedcentral.com)
Here, we show that in Xenopus, Fry plays a role in morphogenetic processes during gastrulation, in addition to its previously described function in the regulation of dorsal mesoderm gene expression. (nature.com)
Our loss- and gain-of-function studies, as well as the observed genetic interactions among Dorsocross, tinman and pannier , suggest that co-expression of these three genes in the cardiac mesoderm, which also involves cross-regulation, plays a major role in the specification of cardiac progenitors. (biologists.com)
Regulation of gene expression plays a central role in embryonic development. (biomedcentral.com)
TP53 activates the expression of genes involved in apoptosis, cell cycle regulation (p21), and MDM2. (medscape.com)

PHTF, a novel atypical homeobox gene on chromosome 1p13, is evolutionarily conserved. (nih.gov)
The furry ( fry ) gene encodes an evolutionarily conserved protein with a wide variety of cellular functions, including cell polarization and morphogenesis in invertebrates. (nature.com)
The Furry (Fry) gene encodes a large protein (~ 330 kDa) that is evolutionarily conserved from yeast to humans. (nature.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)
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)

Thus the genetic basis leading to a better or worse prognosis for survival in cancer patients may be dependent on functional polymorphisms in genes such as genes responsible for tumor transformation, xenobiotic metabolism, oxidative stress, detoxification and DNA repair. (biomedcentral.com)
A mutation in the TP53 gene overexpresses the p53 protein and increases the risk of tumor progression [ 7 ]. (biomedcentral.com)
Altered expression of HOX genes may be important for oncogenesis and tumor suppression by influencing various pathways that promote tumorigenesis and metastasis. (biomedcentral.com)
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)
Since identification of EZH2 in the research of protooncogene product Vav [ 3 ], studies have shown that EZH2 is highly expressed in tumorigenesis, which regulates the expression of tumor suppressor genes, such as in breast cancer, prostate cancer, and lung cancer [ 4 - 6 ]. (hindawi.com)
tumor suppressor genes. (upstate.edu)
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)
[ 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)
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)

The homeobox transcription factor HOXC13 upregulates human papillomavirus E1 gene expression and contributes to viral genome maintenance. (nih.gov)
In this study, 23 HD-Zip genes distributed on 6 chromosomes were identified from the peach ( Prunus persica ) genome, and named PpHDZ01-23 according to their positions on the chromosomes. (biomedcentral.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)
To overcome the shortcomings of the candidate gene studies, investigators have applied a genome-wide linkage scan strategy in which regularly spaced markers are traced in families and sibling pairs for segregation with T2DM. (scialert.net)
Using a new and powerful technology in the form of a genome-wide chip that genotypes up to hundreds of thousands of SNPs, Genome-Wide Association Studies (GWAS) have recently led to the discovery of a group of novel genes that were reproducibly associated with T2DM risk. (scialert.net)
How many genes are in the human genome? (cshlpress.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)
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)
How Many Protein Kinases Are Encoded in the Genome? (cshlpress.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)
It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project . (wikidoc.org)
Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikidoc.org)
Briefly, miRNAs are expected to account for 1-5% of the human genome and to interfere with at least 30% of the protein-coding genes ( 4 , 5 ). (frontiersin.org)

2021). ZmHOX32 , a member of the HD-ZIP III family (that also harbor a START domain that is able to bind to steroid ligands), appears to function in leaf morphogenesis and plant photosynthesis as judged by the enriched category of downstream genes that it regulates (Miao et al. (grassius.org)
The induction cascades of early morphogenesis involve numerous growth factors, homeobox genes, and paired domain genes. (medscape.com)

DUX4 is a double homeobox-containing gene (a homeobox gene being one in a large family of genes that direct the formation of many body structures during early embryonic development). (arkansasbluecross.com)
Thus, the appropriate expression level of the EZH2 gene is important for embryonic development. (hindawi.com)
However, the transcript and expression status of the EZH2 gene during porcine embryonic development remains unknown. (hindawi.com)
Maternal to zygotic transition (MZT) is the key event during embryogenesis marked by the switch of control from the maternal and possibly paternal transcripts to the newly synthesized embryonic gene products [ 9 - 11 ]. (biomedcentral.com)

Although mutation- or pathway-directed targeted therapy (e.g., using tyrosine kinase inhibitors to treat Philadelphia chromosome [Ph]-positive and Phlike B-cell-ALL) is currently available for only a minority of children with ALL, many of the newly identified molecular alterations have led to the exploration of approaches targeting deregulated cell pathways. (haematologica.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)
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)
What pathways are this gene/protein implicaed in? (cancerindex.org)
Indeed, it has been shown that miRNAs play an important role in gene expression, mainly when associated with the monitoring of several cell and metabolic pathways, being also an essential component of the gene silencing machinery in most eukaryotic organisms ( 4 , 8 ). (frontiersin.org)

Homeobox domain genes are mainly involved in controlling the growth and developmental processes such as transition through phases in an organism by encoding a certain transcription factor. (grassius.org)

Human chromosome 1 pair after G-banding . (wikidoc.org)
Chromosome 1 is the designation for the largest human chromosome . (wikidoc.org)
The following are some of the gene count estimates of human chromosome 1. (wikidoc.org)
The following is a partial list of genes on human chromosome 1. (wikidoc.org)
Lap-Chee Tsui is a geneticist who discovered the cystic fibrosis (CF) gene, and his research team sequenced human chromosome 7. (asu.edu)

Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. (lookformedical.com)

It is included in a cluster of homeobox B genes located on chromosome 17. (wikipedia.org)

20% maternal uniparental disomy chromosome 15. (kipdf.com)

As the number and characteristics of such alleles are undetermined, a focussed candidate gene approach based on genes closely interacting with the known susceptibility genes such as BRCA1 and BRCA2 , the two major susceptibility genes identified yet, constitutes a study design of choice to identify rare-moderate-penetrance susceptibility alleles. (biomedcentral.com)

In addition, we demonstrate that this family is critical in maintaining stemness of EpCAM + AFP + HepCSCs, in part by directly targeting an inhibitor of Wnt/β-catenin signaling (nemo-like kinase [NLK]) and two hepatic transcriptional regulators of differentiation, i.e., caudal type homeobox transcription factor 2 (CDX2) and GATA binding protein 6 (GATA6). (biomedcentral.com)
This gene encodes a member of the trithorax group of transcriptional activators. (cancerindex.org)

Vollbrecht E, Veit B, Sinha N, Hake S. The developmental gene Knotted-1 is a member of a maize homeobox gene family. (grassius.org)
THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests.org Gene Reviews  Cassidy SB and Allanson JE. (kipdf.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)
Transcriptomic analyses provide an efficient approach to explore the temporal gene expression profiles in embryos and to search for the developmental regulators. (biomedcentral.com)
The switch from maternal to zygotic developmental programs is associated with large-scale modification of chromosomes. (biomedcentral.com)
Early ontogeny is associated with dramatic gene expression changes that underlie and determine the developmental processes. (biomedcentral.com)
Originally named the Mongoloid Developmental Council, NADS is one of the oldest organizations serving people with Down syndrome and their families in the United States. (asu.edu)

A number of mechanisms play a large role in the initiation of neoplastic transformation of bladder or kidney cancer, including: mutation of suppressor genes, activation of proto-oncogenes, abnormal and over-expression of oncogenes through amplification and deletion of some regions of chromosomes, and methylation. (biomedcentral.com)
An interstitial deletion del(4)(q12q12) generating a FIP1L1-PDGFRA fusion gene is observed in diverse eosinophilia-associated hematologic disorders like hyperseosinophilic syndrome (HES), systemic mastocytosis (SM) and chronic eosinophilic leukemia (CEL). (atlasgeneticsoncology.org)
The cryptic interstitial deletion on chromosome band 4q12 leading to FIP1L1-PDGFRA fusion is quite unique as it is generated by a cryptic chromosomal deletion, rather than a translocation (Gotlib and Cools, 2008). (atlasgeneticsoncology.org)
In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)

Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. (wikipedia.org)
We evaluated a next generation therapeutic peptide, HTL-001, capable of targeting HOX gene over-expression in GBM by disrupting the interaction between HOX proteins and their co-factor, PBX. (biomedcentral.com)
Bone marrow & Lymphoid tissues Brain Breast and female reproductive system Connective & Soft tissue Endocrine tissues Eye Gastrointestinal tract Kidney & Urinary bladder Liver & Gallbladder Lymphoid Male reproductive system Muscle tissues Myeloid Pancreas Proximal digestive tract Respiratory system Skin * nTPM: Normalized TPM levels represent consensus gene expression calculated using two data sets. (antibodypedia.com)
Genes whose expression leads to the development of bladder and kidney cancer are being searched for. (biomedcentral.com)
These are the so-called high penetration genes or so-called low penetration genes whose expression disturbs metabolism and may initiate the process of neoplastic transformation of various organs. (biomedcentral.com)
Moreover, MLLT1 -mutant tumours show an increase in MYC gene expression and HOX dysregulation. (nature.com)
How Gene Expression (mRNA and protein synthesis) is spatially controlled in embryos. (albertkharris.com)
Spatio-temporal expression pattern showed that these genes were expressed in many tissues with different levels, and they had distinct expression pattern during adventitious root formation and development. (biomedcentral.com)
Earlier studies using a candidate gene approach, family linkage studies and gene expression profiling uncovered a number of T2DM genes, but the genetic basis of common T2DM remained unknown. (scialert.net)
FSHD is likely to be caused by inappropriate expression of the gene DUX4 in muscle cells. (arkansasbluecross.com)
Reductions in SMCHD1 gene product levels have been associated with D4Z4 contraction-independent DUX4 expression, suggesting that SMCHD1 acts as an epigenetic modifier of the D4Z4 allele (Lemmers, 2012b). (arkansasbluecross.com)
EpCAM + AFP + HepCSCs have an activated Wnt/β-catenin signaling with a parallel increased expression of all four microRNA-181 family members. (biomedcentral.com)
Using both western blot and quantitative reverse transcriptase-PCR analyses, we found that the expression of all four microRNA-181 family members was positively correlated with β-catenin expression in HCC cell lines. (biomedcentral.com)
Mature miRNAs are generated from sequential processing of primary miRNA transcripts by Drosha and Dicer, then serve as posttranscriptional regulators of gene expression in certain biological events including carcinogenesis [ 10 ]. (biomedcentral.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)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
Here, we identified the coding sequence of the EZH2 gene and characterized its expression pattern in fetal tissues of Duroc pigs at 65- and 90-day postcoitus (dpc). (hindawi.com)
Polycomb Group (PcG) proteins are a family of protein complex that regulate gene expression, especially repressing gene transcription [ 1 ]. (hindawi.com)
Furthermore, the decreased expression of the EZH2 gene is crucial for stem cell differentiation into specific cell lineages involved in myogenesis, adipogenesis, osteogenesis, neurogenesis, and haematopoiesis [ 9 ]. (hindawi.com)
Luciferase reporter gene assay of the promoter construct bearing this variant did not suggest a variation of expression in the MCF-7 breast cancer cell line, but indicated a reduction of luciferase expression in both the HEK293 and LNCaP cell lines. (biomedcentral.com)
In an early step, the Dorsocross genes act in parallel with tinman to activate the expression of pannier , a cardiogenic gene encoding a Gata factor. (biologists.com)
The major event of MBT was the activation of a large group of histones and other genes that modify chromatin structure preceding massive gene expression changes. (biomedcentral.com)
Various growth factors, cytokines, and prostaglandins upregulate HGF gene expression, including basic fibroblast growth factor, oncostatin M, hypoxia-inducible factor 1α and nuclear factor-κB (NF-κB) ( 9 ). (spandidos-publications.com)
By contrast, transforming growth factor (TGF)-β1 was demonstrated to markedly downregulate HGF gene expression ( 10 , 11 ). (spandidos-publications.com)

The fact that all four independently encoded miR-181 transcripts are similarly activated to maintain "stemness" is intriguing, which implies that a common cellular signaling pathway may converge to activate miR-181s. (biomedcentral.com)
Alternative splicing of gene can generate multiple transcripts and proteins to regulate tissue and organ development [ 17 ]. (hindawi.com)
Transcripts found in unfertilized oocytes also encoded a large number of proteins implicated in cell adherence, tight junction and focal adhesion, suggesting high complexity in terms of structure and cellular interactions in embryos prior to midblastula transition (MBT). (biomedcentral.com)
A hallmark of events observed during segmentation was the induction of multiple transcription factors, including a large group of homeobox proteins in pace with decay of a large fraction of maternal transcripts. (biomedcentral.com)

Genetic analysis of plant architecture has led to the discovery of key genes that function in meristems, including the maize ( Zea mays ) transcription factor knotted1 ( kn1 ), the founding member of the kn1 homeobox ( knox ) gene family (Vollbrecht et al. (grassius.org)
No prior knowledge of gene or gene effects is necessary, but the genetic locus must have sufficient impact on the disease susceptibility to be detectable. (scialert.net)
Which genes are commonly associated with genetic diseases? (cshlpress.com)
Fragile X Syndrome Genetics  PCR/Southern blot: No. of trinucleotide CGG repeats FMR1 gene o Normal: 5-44 Intermediate "gray zone": 45-54 o Premutation carrier: 55-200 Full mutation: >200  Genetic Anticipation: Maternal premutation carrier transmits unstable FMR1 allele to offspring. (kipdf.com)
Several genetic mechanisms may lead to POI, including chromosomal abnormalities of the X chromosome or autosomes and autoimmune disorders [ 6 ]. (hindawi.com)
In a candidate gene study aiming at identifying genetic determinants of breast cancer susceptibility, we undertook the full sequencing of the NBN gene in our cohort of 97 high-risk non- BRCA1 and - BRCA2 breast cancer families, along with 74 healthy unrelated controls, also from the French Canadian population. (biomedcentral.com)
Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3). (medscape.com)

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)

Homeobox protein Hox-B9 is a protein that in humans is encoded by the HOXB9 gene. (wikipedia.org)

The presence of a homeodomain (HD), which comprises 60 amino acids, makes a three-helix tertiary structure, that binds the promoter regions of specific target genes (Sharif et al. (grassius.org)
The homeodomain domain is generally composed of about 60 amino acids encoded homeobox, which form three alpha helices. (biomedcentral.com)
Our results showed that the coding sequence of EZH2 was 2241 bp, encoding 746 amino acids. (hindawi.com)
It encodes the inactive pre-pro-HGF, a single chain of 728 amino acids (83 kDa), which includes a signal sequence ( 1 - 31 ), a heavy α chain (69 kDa), and a light β chain (34 kDa). (spandidos-publications.com)

So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikidoc.org)

The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. (wikipedia.org)
The homeodomain [of a Hox protein] is a 60-amino-acid-long DNA-binding domain (encoded by its corresponding 180-base-pair DNA sequence, the homeobox). (albertkharris.com)

1991). The maize Kn1 gene was found to encode a homeodomain-containing protein, the first identified in the plant kingdom. (grassius.org)

Second, networks of genes and hormones regulate the advancement of sex determination and gonad differentiation, known as the gonadal sex phase. (lidsen.com)
also known as ASH1), neurogenic differentiation factor 1 (NeuroD1), yes-associated protein 1 (YAP1) and POU class 2 homeobox 3 (POU2F3). (cancerindex.org)

A dense genomewide linkage search of the family was undertaken using a first generation 10K single nucleotide polymorphism chip containing 10,044 markers. (diabetesjournals.org)
Only 61 (0.06%) of the markers displayed identifiable non-Mendelian transmission and neither of the two males typed were assigned a heterozygous state for any of the 178 single nucleotide polymorphisms (SNPs) mapping to the X chromosome. (diabetesjournals.org)
Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (wikidoc.org)

Gene nomenclature for duplicated and novel genes. (tanakalab.org)

Two Cat loci arose by gene duplication. (tanakalab.org)

Full mutation leads to hypermethylation of this expanded CGG repeat tract, silencing the FMR1 gene with consequent decrease/absence of encoded FMR1 protein: cognitive disability. (kipdf.com)
Recently, we have implemented and successfully applied a method based on genotype imputation of rare variation, on a set of genes detected by exome sequencing as possible candidates for association to systemic lupus erythematosus (SLE) by mutation in members of Icelandic SLE-multicase families ( 15 ). (frontiersin.org)
As the location of the cystic fibrosis gene is now known, it is possible for doctors and specialists to identify in human fetuses the mutation that causes the fatal disease. (asu.edu)
Germline mutation of one TP53 allele is found in patients with Li-Fraumeni syndrome who generally inherit a mutated TP53 gene from an affected parent. (medscape.com)

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 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)

The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. (antibodypedia.com)

Which Genes Have the Most Exons? (cshlpress.com)

Prader-Willi Syndrome Genetics  Genotype-Phenotype correlations o Type I deletions: more compulsions, poorer adaptive skills, lower IQ and lower academic achievement  75% microdeletion paternal chromosome 15q11.2-q13. (kipdf.com)

This is in line with the mouse gene nomenclature and it follows current axolotl gene annotations 2 . (tanakalab.org)

Deficiency of one copy SHOX (short stature homeobox gene) on Xp considered to have role in short stature. (kipdf.com)

To dissect functional hierarchies, we compared chromatin organization in larvae and in cell lines, with a focus on the Abd-B gene. (biorxiv.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)
As one of the two distinct complexes, namely, Polycomb Repressive Complex 1 (PRC1) and PRC2, PRC2 mediates gene silencing by modulating chromatin structure [ 2 ]. (hindawi.com)

These gene sequences are conservative through evolution (for example have homologous sequences in flies and in vertebrates) although they don't necessarily have the same function. (albertkharris.com)

Background: This gene is a member of the Antp homeobox family andencodes a nuclear protein with a homeobox DNA-binding domain. (hatinhibitor.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)

DUX4 lies in the macrosatellite repeat D4Z4, which is on chromosome 4q35. (arkansasbluecross.com)

Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (wikidoc.org)

The Dorsocross genes are induced within the segmental areas of the dorsal mesoderm that receive intersecting Dpp and Wg inputs. (biologists.com)

Antennapedia homeodomain protein is a homeobox protein involved in limb patterning in ARTHROPODS. (lookformedical.com)

In this study we have focused on HOX gene dysregulation in GBM as a potential therapeutic target in a disease with high unmet need. (biomedcentral.com)
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)
There is a strong history of type 2 diabetes in carriers of the disease gene. (diabetesjournals.org)
None of the unaffected family members were homozygous for the disease haplotype. (diabetesjournals.org)
It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)

In the present review, the phenotypes of Met gene‑modified mice are summarized. (spandidos-publications.com)

In all these organisms, cardiac induction in the lateral mesoderm involves the concerted action of signals mediated by Bmp, Wnt and Fgf family members, which act upon cardiogenic genes encoding NK homeodomain, Gata and T-box transcription factors (reviewed by Zaffran and Frasch, 2002 ). (biologists.com)

Anatomy62

Organisms17

Diseases18

Chemicals and Drugs37

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Phenomena and Processes160

Disciplines and Occupations2

Technology, Industry, Agriculture3

Information Science4

Highly conserved5

Mutations13

Belongs to the homeobox2

Drosophila4

Variants12

Homeodomain proteins4

Cluster on chromosome2

Clusters5

Regulation6

Evolutionarily conserved5

Tumor12

Genome18

Morphogenesis2

Embryonic4

Pathways5

Domain genes1

Human chromosome5

Proteins encoded1

Included in a cluster1

Uniparental disomy1

Susceptibility genes1

Transcriptional2

Developmental8

Deletion5

Expression24

Transcripts4

Genetic7

Apoptosis2

HOXB91

Amino acids4

Protein-codin1

Sequence2

19911

Differentiation2

Nucleotide3

Novel genes1

Loci1

Mutation4

Crucial2

Anterior-posterior axis1

Exons1

Paternal1

Nomenclature1

SHOX1

Chromatin4

Vertebrates1

Nuclear protein2

DUX41

Autosomes1

Dorsal mesoderm1

Antennapedia1

Disease5

Phenotypes1

GATA1