Functional human homeobox genes. Medical search. Frequent questions

Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. (wikipedia.org)
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)
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome caused by mutations in the MEN1 tumor suppressor gene. (elsevierpure.com)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
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)
Congenital central hypoventilation syndrome is a disorder of respiratory control caused by mutations in the paired-like homeobox 2B gene. (elsevierpure.com)
Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. (elsevierpure.com)
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)
More than 20 mutations in the CRX gene have been found to cause cone-rod dystrophy. (medlineplus.gov)
Cone-rod dystrophy is caused by mutations that occur in one of the two copies of the CRX gene in each cell. (medlineplus.gov)
CRX gene mutations are responsible for about one-quarter of the cases of a form of the condition called autosomal dominant cone-rod dystrophy. (medlineplus.gov)
These mutations lead to a reduction in the amount of functional cone-rod homeobox protein that is available to regulate other genes in the retina. (medlineplus.gov)
Several CRX gene mutations have been found to cause different forms of vision loss in different individuals. (medlineplus.gov)
It is unclear how mutations in the CRX gene can cause different eye disorders. (medlineplus.gov)
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. (cdc.gov)

This gene is highly similar to the antennapedia (Antp) gene of Drosophila. (nih.gov)
Here, we report that the miRNA iab-4 locus in the Drosophila Hox cluster is transcribed convergently from both DNA strands, giving rise to two distinct functional miRNAs. (nih.gov)
This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. (abnova.com)
Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. (thermofisher.com)
Isolation and expression analysis in murine embryos of Dlx5 and Dlx6, two murine homologues of the Drosophila Distal-less gene. (cnr.it)
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)
By contrast, targeted deletion of genes such as Math1 (a mouse homolog of Drosophila proneural gene atonal ) or sequences encoding BRN 3.1 and BDNF produces congenital sensorineural anomalies of the inner ear. (nih.gov)

The most common protein domains encoded in these embryonic, differentially expressed genes are the homeobox and RNA Recognition Motif (RRM). (xenbase.org)
C) classification of genes according to sequence similarities, values are given as percentages of the number of unique, differentially expressed genes (NZ723), FL, Full-Length Open Reading Frame. (xenbase.org)
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)

We investigated the functional contribution of miR-1238 to the regulation of LHX2 in non-small cell lung cancer (NSCLC). (oncotarget.com)
Exploring functional links between matrix stiffness, micro RNAs and HoxA9 dependent regulation of BRCA1 and mammary cell survival and tumorigenesis. (ucsf.edu)
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)
Disruption of HOXB5 regulation leads to NCC disorders that resembles HSCR in human. (hku.hk)

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)
This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. (nih.gov)
Msx2 is a homeobox gene localized on human chromosome 5 that encodes a transcription repressor and activator (MSX-2) responsible for craniofacial and limb-bud development. (wikipedia.org)
Shortly after 6 weeks' gestation, the testis-determining SRY gene on chromosome Y directly affects the differentiation of the indifferent gonad into a testis. (medscape.com)
This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. (thermofisher.com)
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 CRX gene is found on chromosome 19 . (medlineplus.gov)

Hox genes encode transcription factors that specify segmental identities along the Antero-Posterior body axis. (biorxiv.org)

The fully sequenced genome, since compact and unduplicated, gives acces to regulatory DNA segments, isolated for reporter gene essays in vivo . (uibk.ac.at)
pooled RNA was applied to Human Genome U133 Plus 2.0 Affymetrix GeneChips. (bmj.com)
Human genome variation 2018 7 5 14. (cdc.gov)

Both sense and antisense miRNA products target neighboring Hox genes via highly conserved sites, leading to homeotic transformations when ectopically expressed. (nih.gov)
Hence, one way to decipher the tumorigenic contribution of germline changes in highly conserved genes such as PHOX2B is to understand how they perturb normal development. (prolekarniky.cz)

Such DNA constructs, when electroporated in fertilised eggs, produce transiently transgenic embryos and allow rapid gene functional and gene regulatory analyses , in precisely identifyable tissue precursors, from earliest embryonic stages in vivo . (uibk.ac.at)
The second part of our research is directed towards characterizing the role of and molecular mechanisms whereby mechanical force regulates human embryonic stem cell fate using 2D/3D natural and synthetic matrices and a force reactor with a focus on adhesion signaling and epigenetics. (ucsf.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 conclusion, this study represents an atlas of gene expression patterns, which reveals embryonic regionalization, provides novel marker genes, and makes predictions about the functional role of unknown genes. (xenbase.org)

The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. (beds.ac.uk)
Homeobox proteins are master regulators of develop-ment and control many cellular processes, including proliferation, apoptosis, cell shape, and cell migration. (123dok.net)
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)
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)
Chemically induced gene expression changes were characterized by qRT-PCR, global run-on sequencing (GRO-seq) and immunoblotting, and the network of cooperative proteins of GATA4 and NKX2-5 were further explored by the examination of the GATA4 and NKX2-5 interactome by BioID. (biomedcentral.com)

We classified 363 of the 723 genes for which a Gene Ontology annotation for molecular function could be attributed and found 'DNA binding' and 'enzyme' the most represented terms. (xenbase.org)
Classification of genes according to Gene Ontology molecular function controlled vocabulary. (xenbase.org)

Human induced pluripotent stem cells (iPSCs) offer a potential unlimited source of adult cell types with numerous applications in regenerative medicine. (ca.gov)
Human induced pluripotent stem (iPS) cells can differentiate into hepatocyte lineages, although the phenotype of the differentiated cells is immature compared to adult hepatocytes. (ca.gov)

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)
The role of HOX genes in adult cell differentiation is still obscure, but growing evidence suggests that they may play important roles in the development of cancer. (elsevierpure.com)
Alternate forms of the PolII transcription initiation machinery have been proposed to play a role in selective activation of cell-type-specific gene expression programs during cellular differentiation. (silverchair.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)
Researchers believe that there is enough cone-rod homeobox protein function to allow for photoreceptor cell differentiation, but long-term maintenance of the cells cannot be sustained. (medlineplus.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)
Here, it is demonstrated that TGFβ facilitates Tβ4 expression and leads to the activation of myocardin-related transcription factors (MRTF), which are coactivators of serum response factor (SRF) and regulate the expression of genes critical for the epithelial-mesenchymal transition (EMT) and tumor metastasis. (aacrjournals.org)
Tbx20 physically interacted with cardiac transcription factors Nkx2-5, GATA4, and GATA5, collaborating to synergistically activate cardiac gene expression. (nih.gov)

Human Genetics. (wikipedia.org)
Genetics of NCC associated developmental anomalies in human such as Hirschsprung's disease (HSCR) 3. (hku.hk)
European journal of human genetics : EJHG 2019 2 27 (7): 1044-1053. (cdc.gov)

This gene encodes a member of the muscle segment homeobox gene family. (wikipedia.org)

In wild type pigs, μfERG allowed functional recording from rods and each type of cone photoreceptor cells separately. (nature.com)
Through its actions as a transcription factor, the cone-rod homeobox protein helps photoreceptor cells mature into two types: rods and cones. (medlineplus.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)
Signalling then converges to nuclear accumulation of transcriptionally active SMAD complexes and gives rise to a plethora of specific functional responses in both embryos and adult organisms. (nature.com)
Expression analysis of several Hox genes in human embryos. (cnr.it)
Isolation and expression analysis both in invertebrate and vertebrate embryos of a new homeobox containing gene named Orthopedia (Otp). (cnr.it)
BC is a technique in which deletion of a key gene for the development of a specific lineage creates a vacant niche (organogenesis-disabled phenotype) that can be complemented by the progeny of wild type pluripotent stem cells injected into embryos at the blastocyst stage of development. (biomedcentral.com)

Methods: V-ATPase genes expression and associated pathways were analyzed in different series of glioma available from public databases, as well as in patients' cohort. (unimi.it)
Activation of pathways was analyzed at gene and protein expression levels. (unimi.it)
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)
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)

Germline knockout mice have been created for this gene (Msx2 +/-) in order to examine functional loss. (wikipedia.org)
Next, we generated iPS cell lines overexpressing LIM homeobox 2 (LHX2), which suppresses myofibroblastic changes in HSCs in mice. (ca.gov)
Food-associated estrogenic compounds induce estrogen receptor-mediated luciferase gene expression in transgenic male mice. (knaw.nl)
Clinical and cell-based studies as well as investigations on mice have demonstrated pivotal roles for each SRC in numerous physiological and pathophysiological contexts, underscoring their functional pleiotropy. (frontiersin.org)
For example, the identification of regulatory sequences of genes expressed specifically in the vestibular system will allow the targeted introduction of foreign genes into the vestibular system of transgenic mice. (nih.gov)

Satou, Y. (2020): Gata is ubiquitously required for the earliest zygotic gene transcription in the ascidian embryo. (uibk.ac.at)

Functional evaluation of wild type and transgenic pigs affected by retinal degeneration was carried out using OCT guided micro-focal ERG (μfERG) with selected stimulation wavelengths for S, M and L cones as well as rod photoreceptors. (nature.com)
Furthermore, functional deficits in P23H transgenic pigs consistent with their retinal degeneration phenotype were observed, including decrease in the S and M cone function and lack of rod photoreceptor function. (nature.com)

In human cancers, dysregulated expression of LIM-homeobox gene 2 (LHX2) and downregulation of miR-1238 has been reported separately. (oncotarget.com)

MicroRNAs (miRNAs) are approximately 22-nucleotide RNAs that are processed from characteristic precursor hairpins and pair to sites in messages of protein-coding genes to direct post-transcriptional repression. (nih.gov)
MKL1 and MKL2 ), or robust SRF transcriptional coactivators, have been reported to organize actin cytoskeletal rearrangement and regulate cell motility by controlling the expression of dozens of cytoskeletal/adhesion genes ( 4-6 ). (aacrjournals.org)
MicroRNAs (miRNAs or miRs) are small non-coding RNAs that participate in diverse cellular processes and negatively regulate gene expression at the post-transcriptional level by binding with 3′-untranslated regions (3′-UTRs) ( 2 - 4 ). (spandidos-publications.com)
Collectively, these results indicate the potential for therapeutic alteration of cell fate decisions and pathological gene regulatory networks by GATA4-targeted compounds modulating chamber-specific transcriptional programs in multipotent cardiac progenitor cells and cardiomyocytes. (biomedcentral.com)
In particular, the transcriptional diversity regulated by sQTLs in testis-enriched genes may be important for spermatocytes to respond to environmental and physiological stress. (biomedcentral.com)

Clinical studies on craniosynostosis, or the premature fusion of cranial structures, have shown the condition to be genetically linked to mutation in the msx2 homeobox gene. (wikipedia.org)
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)
This case suggests that the paired-like homeobox 2B mutation causes not only congenital central hypoventilation syndrome and Hirschsprung's disease, but also variant Hirschsprung's disease in humans. (elsevierpure.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)

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)
Using less stringent statistical criteria (uncorrected p -values), also the gene SPATA16 , which has a pivotal role in male fertility and for which episodes of adaptive evolution have been suggested, also displays a putative signal of diversifying selection in the human branch. (biomedcentral.com)
Fifty-nine putative orthologs of human disease genes, and 254 organ or cell specific marker genes were identified. (xenbase.org)

Here, we identify genes regulating the generation and maturation of liver cells from iPSCs. (ca.gov)

We have previously tested the overall effect of imputed rare variation on particular genes in systemic autoimmunity ( 14 ). (frontiersin.org)
The cone-rod homeobox protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. (medlineplus.gov)

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)

Previous studies have demonstrated that microRNAs (miRs) serve important roles in the progression of human cancer types, including pancreatic cancer (PC), a highly lethal malignancy. (spandidos-publications.com)

1) the mechanisms and dynamics for gene regulatory switches affecting the pluripotent ectoderm in vivo . (uibk.ac.at)
Transcription factor GATA4-targeted compounds that have previously shown in vivo efficacy in cardiac injury models were tested for stage-specific activation of atrial and ventricular reporter genes in differentiating pluripotent stem cells using a dual reporter assay. (biomedcentral.com)
BC is the only current method for making fully functional, three-dimensional organs from pluripotent cells and generating human organs in large mammalian hosts may be able to address the critical worldwide problem of organ shortages for transplantation [ 16 ]. (biomedcentral.com)

At the molecular level, GBM-like V-ATPase expression correlates with upregulation of Homeobox genes. (unimi.it)
Molecular mechanism controlling the expression of the HOX Complex gene family in human teratocarcinoma cells (N-tera2/D1). (cnr.it)
The molecular function of the gene product is indicated by a single GO term. (xenbase.org)
The scientific presentations emphasized developmental processes, encompassing such areas as: 1) the role of homeobox genes and growth factors in inner ear development and plasticity, 2) effects of altered gravitational loading on the development of the inner ear gravity receptor, 3) effects of altered gravitational loading on developing and mature neuromuscular systems and 4) molecular mechanisms that determine muscle fiber diversity and hypertrophic responses. (nih.gov)
Currently, with the application of molecular biology resources in human identification, it became possible to identify a person even without physical ante-mortem data or with deteriorated biological material in negligible amounts, which are actually relatively common conditions in forensic analyses 7,12,16,19 . (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)
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)
SATB1 can recruit chromatin-remodeling factors and thereby regulate chromatin structure and gene expression. (bdbiosciences.com)

The left -most part represents the result of sequence similarity searches from cDNA sequences representing these genes: gene symbol, gene name or description of the best hit. (xenbase.org)

Therefore, we hypothesized that specific HOX genes were regulated by menin in parathyroid tumor development. (elsevierpure.com)
We identified a large set of 23 HOX genes whose deregulation is specific for fMEN1 parathyroid tumors, and only 5 HOX genes whose misexpression are specific for sporadic parathyroid tumor development. (elsevierpure.com)
These findings provide the first evidence that loss of the MEN1 tumor suppressor gene is associated with deregulation of specific HOX gene expression in the development of familial human parathyroid tumors. (elsevierpure.com)
Tβ4-knockout B16F1 (Tβ4 KO) clones show significantly diminished expression level of tumor-associated genes, which is regulated by the TGFβ/MRTFs pathway. (aacrjournals.org)
In multiple human cancers, Tβ4 levels correlate positively with TGFβ1 and the tumor-associated gene expression levels through processes that respectively depend on TGFβ receptor 1 (TGFBR1) and MRTF expression. (aacrjournals.org)
miR-205 expression in humans was validated by Landgraf et al ( 8 ), however, its role in tumor progression is contradictory ( 9 - 12 ). (spandidos-publications.com)
Using immunohistochemistry, we observed HOXD9 protein expression in human brain tumor tissues, including astrocytomas and glioblastomas. (123dok.net)

Functional analysis of HOXD9 in human gliomas and glioma cancer stem cells. (123dok.net)
Finally, we cultured human glioma cancer stem cells (GCSCs) from patient specimens found with high expression of HOXD9 in GCSCs compared with normal astrocyte cells and neural stem/progenitor cells (NSPCs). (123dok.net)
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)
Using exogenous stem cells to replace lost inner ear neurons is a potential strategy if stem cell-derived neurons can form central and peripheral connections, form synapses on hair cells and cochlear nucleus neurons, and re-establish functional and tonotopic circuits [ 6 ]. (biomedcentral.com)

In murine mammary gland cells (NMuMG), Tβ4 upregulation is required for full induction of a MRTF-regulated EMT gene expression program after TGFβ stimulation. (aacrjournals.org)

More than 30 mammalian genes comprise the TGFβ superfamily of growth factors. (nature.com)

Hepatocytic maturation in iPS-HPCs was significantly increased in direct co-culture with iPS-HSCs overexpressing LHX2, but not in co-culture with a human hepatic stellate cell line (LX-2) overexpressing LHX2. (ca.gov)
The spleen is also involved in the functional maturation of antibodies and is a significant reservoir for both B and T lymphocytes. (medscape.com)

Expression of cell cycle regulators fell in two classes, containing proliferation-promoting and anti-proliferative genes, respectively. (xenbase.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 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)

Loss of the functional second copy of the MEN1 gene causes individuals to develop multiple endocrine tumors, primarily affecting the parathyroid, pituitary, and pancreas. (elsevierpure.com)
Utilizing quantitative TaqMan RT-PCR, we compared expression profiles of the 39 HOX genes in human familial MEN1 (fMEN1) parathyroid tumors and sporadic parathyroid adenomas with normal samples. (elsevierpure.com)
Homeobox genes play a critical role in tissue development, are frequently lost in tumors, and can regulate integrin and extracellular matrix (ECM) expression. (ucsf.edu)

Recent human transcriptomic analyses revealed a very large number of testis-enriched genes, many of which are involved in spermatogenesis. (biomedcentral.com)
Dentists, properly supported by Laws 6 and Resolutions 5 in Brazil, may perform analyses involving biological materials from the human body in various conditions (sliced, dilacerated, charred, macerated, decayed, in skeletonization and skeletonized), aiming to establish human identification 18 . (bvsalud.org)

To gain insight into the oncogenic mechanisms engaged by these changes, we used zebrafish models to study the functional consequences of aberrant PHOX2B expression in the cells of the developing sympathetic nervous system. (prolekarniky.cz)

AN - check the tag INFANT HN - 2008 FX - Child Nutrition FX - Infant Nutrition Physiology FX - Milk FX - Milk, Human DH - Adolescent Nutrition DI - 052508 MN - SP6.021.067 MS - Nutrition of persons 10 through 19 years of age. (bvsalud.org)

Identification of transcription and processing signals of ribosomal genes of D. melanogaster. (cnr.it)

Recent studies have suggested that menin may act as a scaffold protein to coordinate gene transcription, and that menin is an oncogenic cofactor for homeobox (HOX) gene expression in hematopoietic cancer. (elsevierpure.com)
In humans, the spleen is the site for early hematopoietic development, particularly the development of erythrocytes during the first 4 months' gestation. (medscape.com)

Variant Hirschsprung's disease is a rarer disorder that does not meet the diagnostic criteria of Hirschsprung's disease, although severe functional bowel obstruction persists. (elsevierpure.com)
The patient also exhibited refractory functional bowel obstruction and was diagnosed to have variant Hirschsprung's disease through pathological examination of his intestinal specimens. (elsevierpure.com)

Advancement of new therapeutic interventions such as optogenetics gene therapy and cell replacement therapies are dependent on electrophysiological measurements at cellular resolution. (nature.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)
In addition, such studies could facilitate targeted expression of potentially therapeutic genes to the vestibular system epithelium. (nih.gov)

Shimeld, S.M. (2022): Hmx gene conservation identifies the origin of vertebrate cranial ganglia. (uibk.ac.at)

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)
An equally important challenge is understanding the functional role of signal strength and duration. (nature.com)
Blobe, G. C., Schiemann, W. P. & Lodish, H. F. Role of transforming growth factor β in human disease. (nature.com)
Role of unequal crossing-over in the evolution of ribosomal genes. (cnr.it)
We investigate the role of a number of homeobox containing genes in the ENS development, in particular, the HOXB5. (hku.hk)
In this line, reporter gene assays with combinatorial treatment of 3i-1000 and the BET bromodomain inhibitor (+)-JQ1 demonstrated the cooperative role of GATA4 and BRD4 in the modulation of chamber-specific cardiac gene expression. (biomedcentral.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)

Efficient functional readout, notably at DNA level in vivo is often complicated by the complexity of regulatory interactions and the complexity of genomes, particularly in vertebrates. (uibk.ac.at)
Pharmacological modulation of cell fate decisions and developmental gene regulatory networks holds promise for the treatment of heart failure. (biomedcentral.com)
Positive selection acts on eQTLS and sQTLs, indicating selective effects on important gene regulatory functions. (biomedcentral.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)

A number of studies have demonstrated that altered expression of miRs serves critical roles in human cancers by directly regulating cell behaviors ( 5 - 7 ). (spandidos-publications.com)

The current study aimed to characterise the inflammatory gene profile in the decidua during term labour. (bmj.com)

Alternatively spliced transcript variants have been found for this gene. (beds.ac.uk)
Huang L, Li S, Xiao X, Jia X, Wang P, Guo X, Zhang Q. Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. (medlineplus.gov)

It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. (abnova.com)
GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
Isolation of the murine homologs of the otd and ems homeobox containing genes and analysis of their expression during brain development. (cnr.it)
My group provides the first evidence that a patterning gene HOXB5 regulates trunk and vagal enteric NCC development and survival. (hku.hk)
Adipogenesis has been described as a two-step developmental process consisting on the commitment of undifferentiated MSCs into preadipocytes and the further development of these cells into fully functional mature adipocytes [ 4 ]. (biomedcentral.com)
Alvarez JD, Yasui DH, Niida H, Joh T, Loh DY, Kohwi-Shigematsu T. The MAR-binding protein SATB1 orchestrates temporal and spatial expression of multiple genes during T-cell development. (bdbiosciences.com)
In the retina, the cone-rod homeobox protein is necessary for the normal development of light-detecting cells called photoreceptors. (medlineplus.gov)

Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. (abnova.com)
In addition, miR-1238 expression was frequently decreased in human NSCLC tissues and reversely correlated with LHX2 expression, which was increased in NSCLC tissues. (oncotarget.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)
Replicating these conditions in vitro to generate functional tissues, let alone the organs, has proven extremely challenging and using the embryo to initiate the appropriate signaling cascades is a significant advantage of a BC approach. (biomedcentral.com)

Furthermore, it is unknown whether endogenous progenitors/stromal cells in the adult human heart could be chemically induced to generate functional atrial or ventricular heart muscle to treat adult heart diseases. (biomedcentral.com)

Anatomy2

Organisms1

Chemicals and Drugs10

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Phenomena and Processes7

Information Science3

Mutations16

Drosophila7

Differentially expressed3

Regulation4

Chromosome7

Encode transcription factors1

Genome3

Highly conserved2

Embryonic4

Proteins5

Ontology2

Induced plur2

Differentiation8

Transcription factors3

Genetics3

Encodes1

Photoreceptor cells2

Embryos5

Pathways4

Mice5

20201

Transgenic2

Downregulation1

Transcriptional5

Mutation3

Enrichment1

Putative3

Identify genes1

Particular genes2

Orthodenticle1

Pancreatic1

Pluripotent3

Molecular5

Chromatin4

Sequences1

Tumor7

Stem cells4

Upregulation1

Superfamily1

Maturation2

Proliferation1

Glioma2

Tumors3

Analyses2

Zebrafish models1

Physiology1

Melanogaster1

Hematopoietic2

Hirschsprung's2

Therapeutic3

20221

Role7

Regulatory3

Regulators1

Cancers1

Inflammatory1

Variants2

Development7

Tissues4

Diseases1