We also show that Dlx and Smad proteins localize to promoters/enhancers of a number of common telencephalic genes in vivo and that Smad proteins co-activate transcription with Dlx family members, except with certain mutated human DLX proteins identified in autistic individuals. (biomedcentral.com)
Through mutation burden tests, we demonstrate a significant burden of genetic variants in genes coding for proteins of the primary cilium in PCH patients compared to controls. (bvsalud.org)
The highly conserved family of Wnt proteins represents important regulators of cell behaviour, tissue development and homeostasis by inducing responses in a concentration-dependent manner. (exeter.ac.uk)
The mammalian genome comprises nuclear DNA (nDNA) derived from both parents and mitochondrial DNA (mtDNA) that is maternally inherited and encodes essential proteins required for oxidative phosphorylation. (regenerativemedicine.net)
Cleft lip an1
There is also strong evidence from sequencing studies of candidate genes involved in clefting that mutations in the MSX1 gene may be associated in the pathogenesis of cleft lip and palate. (wikipedia.org)
Phenotypes4
Based on existing evidence, it seems possible that both hypodontia and oligodontia are heterogeneous traits, caused by several independent defective genes, which act along or in combination with other genes and lead to specific phenotypes. (wikipedia.org)
Consequently, several anterior segment dysgenesis phenotypes are associated with mutations in genes expressed during neural crest development. (molvis.org)
NCPs are of various types and exhibit complex phenotypes, which can affect many parts of the human body, such as the craniofacial structure, heart, intestine, and skin. (chinagene.cn)
Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood. (elifesciences.org)
Target genes1
Using this database, researchers can quickly retrieve the expression level data for target genes in different tissues and in response to different treatments to elucidate gene functions and explore the biology of rapeseed at the transcriptome level. (preprints.org)
Candidate genes3
MSX1 is one of the strongest candidate genes for specific forms of tooth agenesis, mutations in this gene was detected only in some affected individuals. (wikipedia.org)
In a further 11%, we identify mutations in novel candidate genes. (bvsalud.org)
Furthermore, this study identifies novel Mendelian candidate genes, and provides evidence for oligogenic inheritance implicating primary cilia in PCH. (bvsalud.org)
Protein10
Homeobox protein MSX-1, is a protein that in humans is encoded by the MSX1 gene. (wikipedia.org)
The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. (wikipedia.org)
MSX1 has been shown to interact with DLX5, CREB binding protein, Sp1 transcription factor, DLX2, TATA binding protein and Msh homeobox 2. (wikipedia.org)
The encoded protein acts as a transcription factor and may be autoregulatory. (thermofisher.com)
A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. (thermofisher.com)
Four members of the mouse Dlx protein family (Dlx1, 2, 5 and 6), part of the Antennapedia class of non-Hox homeodomain transcription factors, are expressed in the embryonic subpallium (Panganiban and Rubenstein 2002 ). (biomedcentral.com)
The gene underlying this disorder is NR2F1 located on chromosome 5q15 which encodes for a nuclear receptor protein. (bvsalud.org)
A L-R expression screen identified the cytoskeletally-associated gene, actin binding lim protein 1 ( Ablim1 ), as asymmetrically expressed in both the node and left lateral plate mesoderm (LPM). (biomedcentral.com)
The Brassica family contains several economically important crops, including rapeseed (Brassica napus, 2n = 38, AACC), the second largest source of seed oil and protein meal worldwide. (preprints.org)
Dipeptidyl peptidase (DPP) 9, DPP8, DPP4 and fibroblast activation protein (FAP) are the four enzymatically active members of the S9b protease family. (preprints.org)
Tissues4
Using a sequential blast pipeline, we phylogenetically classified these genes, as well as those associated with other tissues, in order to define tissue-specific profiles of gene emergence. (biomedcentral.com)
Our comparative analyses show that, among different tissues, the neural crest exhibits a particularly high rate of gene emergence during vertebrate evolution. (biomedcentral.com)
Secreted from neighboring tissues, signaling molecules of the Wnt, Fgf, and Bmp families cooperate to activate a distinct combination of transcription factors at the neural plate border. (biomedcentral.com)
Despite strong tissue-to-tissue variability in gene expression, results from the GTEx project suggest that eQTLs are often, but not always, shared across multiple tissues. (biomedcentral.com)
Transcription factor2
The forkhead box D3 ( FOXD3 ) gene encodes a forkhead transcription factor that plays an important role in neural crest specification in vertebrates and therefore may be involved in human eye disease. (molvis.org)
The Ets variant 2 (ETV2) transcription factor, which belongs to the E26 transformation-specific (ETS) family, has been reported to play a key role in neovascularization. (biomedcentral.com)
Msx11
There is a linkage found between TNS and markers surrounding the MSX1 locus and it showed that a nonsense mutation (S202X) in MSX1 cosegregated with the TNS phenotype in a three-generation family. (wikipedia.org)
Mendelian1
CONCLUSION: Our study confirms the low contribution of Mendelian mutations in PCH and reports PCH as a phenotypic presentation of some known genes known for syndromic, postnatal hydrocephalus. (bvsalud.org)
Defects1
Here, we report that mice encountering an acute exposure to alcohol on gestational Day-7 exhibit significant alterations in chromatin structure (histone 3 lysine 9 dimethylation, lysine 9 acetylation, and lysine 27 trimethylation) at Day-17, and that these changes strongly correlate with the development of craniofacial and central nervous system defects. (biomedcentral.com)
Chromosome1
A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. (findzebra.com)
Mutations2
Mutations in this gene, which was once known as homeobox 7, have also been associated with Witkop syndrome, Wolf-Hirschhorn syndrome, and autosomal dominant hypodontia. (wikipedia.org)
Cancer genome sequencing reveals diverse acquired mutations in CTCF , which we have shown, functions as a tumour suppressor gene. (preprints.org)
[ 4 ] The Hox genes, well described as the master regulators of development, encode a set of transcription factors that specify the identity of particular segments during embryogenesis. (medscape.com)
Expression of esrra is colocalised with genes necessary for cartilage development in pharyngeal arches during zebrafish embryogenesis. (nature.com)
Development7
There is a highly conserved structural organization of the members of the MSX family of genes and their abundant expression at sites of inductive cell-cell interactions in the embryo suggest that they have a pivotal role during early development. (wikipedia.org)
It may also have roles in limb-pattern formation, craniofacial development, in particular, odontogenesis, and tumor growth inhibition. (wikipedia.org)
Gene expression analysis indicates that esrra is expressed in developing pharyngeal arches where genes necessary for cartilage development are also expressed. (nature.com)
Several identified eQTLs were novel and these implicate genes involved in bone development (IPO8, XYLT1, and PRKAR1A), and ribosomal pathways related to marrow and bone dysfunction, as potential candidates in the development of CMI. (biomedcentral.com)
From a clinical perspective, it would be helpful to identify potential commonalities between gene expression profiles in accessible tissue (such as blood) versus more inaccessible tissue (brain, dura mater, cerebrospinal fluid) as this information could lead to the development of biomarkers for human diseases. (biomedcentral.com)
Genetic factors are the main risk factors for NCPs, but environmental factors and abnormal gene-environment interactions can also lead to the development of NCPs. (chinagene.cn)
Subfamily2
A genus of the subfamily ALOUATTINAE, family ATELIDAE, inhabiting the forests of Central and South America. (lookformedical.com)
A subfamily in the family ATELIDAE, comprising three genera: woolly monkeys (Lagothrix), spider monkeys (Ateles), and woolly spider monkeys (Brachyteles). (lookformedical.com)
Neural6
The rostral division of the neural tube into its 3 main sections falls under the control of homeobox (Hox) family of genes. (medscape.com)
Using a neural cortical stem cell model, we find that the epigenetic changes arising as a consequence of alcohol exposure are heavily dependent on the gene under investigation, the dose of alcohol encountered, and that the signatures arising acutely differ significantly from those observed after a 4-day recovery period. (biomedcentral.com)
The identification of neural crest specification genes expressed in the neural plate of basal chordates, in addition to the discovery of pigmented migratory cells in ascidians, has challenged this hypothesis. (biomedcentral.com)
We propose that the evolution of the neural crest is linked not only to the recruitment of ancestral regulatory genes but also to the emergence of signaling peptides that control the increasingly complex lineage diversification of this plastic cell population. (biomedcentral.com)
Vivo1
Importantly, the changes observed post-recovery are consistent with those modeled in vivo, and associate with alterations in transcripts encoding multiple homeobox genes directing neurogenesis. (biomedcentral.com)
Genetic4
MATERIALS AND METHODS: We sequenced the exome in 28 unrelated probands with PCH, 12 of whom from families with at least two affected siblings and 9 of whom consanguineous, thereby increasing the contribution of genetic causes. (bvsalud.org)
Gene expression levels and eQTLs are expected to vary from tissue to tissue, and therefore multi-tissue analyses are necessary to fully understand complex genetic conditions in humans. (biomedcentral.com)
Expression quantitative trait loci (eQTLs) are genetic polymorphisms that affect the expression level of a gene. (biomedcentral.com)
In particular, the Genotype-Tissue Expression (GTEx) project [ 4 ] is a large-scale collaborative effort to catalogue gene expression variation and genetic association with expression among several tissue types. (biomedcentral.com)
Sequence1
The molecular sequence of this clone aligns with the gene accession number as a point of reference only. (origene.com)
Dysplasia1
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
Human1
This comprehensive data mining suggests that DPP9 is essential for human survival and the DPP4 protease family is important in cancer pathogenesis. (preprints.org)
Bone1
Dura mater tissue likely interacts with cranial bone growth and thus may play a role in the etiology of Chiari Type I Malformation (CMI) and related conditions, but it is often inaccessible and its gene expression has not been well studied. (biomedcentral.com)
Sequences2
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)
We used this information to develop the BrassicaEDB, including eFP, Treatment, Coexpression, and SRA Project modules based on gene expression profiles and Gene Feature, qPCR Primer, and BLAST modules based on gene sequences. (preprints.org)
Analyses1
Survival and gene signature analyses were performed on hepatocellular carcinoma (HCC) data. (preprints.org)
Pathways1
Enriched pathways analysis of these positively correlated genes featured Toll-like receptor and SUMOylation pathways. (preprints.org)
Consequently, the result of gene expression analysis often depends strongly on the type of tissue examined for any given experiment, and this too is applicable to the identification of eQTLs. (biomedcentral.com)
Control1
Patient and control exome data for genes biologically related to cilia (SYScilia database) were analyzed by mutation burden test. (bvsalud.org)
Anterior1
To date, the earliest stage at which the orientation of the anterior-posterior axis in the mouse embryo is distinguishable by asymmetric gene expression is shortly after E5.5. (biomedcentral.com)
Analysis2
Loss of function analysis shows that knockdown of esrra impairs expression of genes including sox9, col2a1, sox5, sox6, runx2 and col10a1 thus induces abnormally formed cartilage in pharyngeal arches. (nature.com)
We determined the expression patterns of 101,040 genes via FPKM analysis and displayed the results using the eFP browser. (preprints.org)
High2
All four DPP4-like genes were overexpressed in liver tumours and their joint high expression was associated with poor survival in HCC. (preprints.org)
High expression of genes that positively correlated with overexpression of DPP4, DPP8, and DPP9 were associated with very poor survival in HCC. (preprints.org)