ENAH (gene)

EN1 (gene)

TCF21 (gene)

NFIB (gene)

EXT2 (gene)

Engrailed (gene)

List of intestinal epithelial differentiation genes

MAFA (gene)

MAFB (gene)

WNT9B

EN2 (gene)

Gene gating

Neurogenins

HLX (gene)

Gap gene

Proneural genes

Skin

BTRC (gene)

TBX5 (gene)

M33 (gene)

Grainyhead-like gene family

Developmental bias

20-Hydroxyecdysone

Wnt signaling pathway

CPEB

Amnesiac gene

MIAT (gene)

Inner cell mass

Evolutionary developmental psychology

Race and intelligence

Biology6

• Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. (nature.com)
• A report on the Joint Meeting of the British Societies for Cell and Developmental Biology, Warwick, UK, 31 March-3 April, 2008. (essex.ac.uk)
• Our scientists pursue every aspect of cancer research-from exploring the biology of genes and cells, to developing immune-based treatments, uncovering the causes of metastasis, and more. (mskcc.org)
• A new study in mice led by Kathryn Anderson , Chair of the Developmental Biology Program in the Sloan Kettering Institute, showed that a mutation in the PTEN gene that's been linked to many kinds of cancer can also cause birth defects of the nervous system. (mskcc.org)
• This Special Issue of "Genes" seeks reviews and original papers covering a wide range of topics related to microRNA biology, such as regulation of expression in various disorders (cancer, metabolism, autoimmunity to mention but a few), genetics of microRNAs and their target sites, functional analysis of microRNA function and studies of interactions between microRNAs and target genes. (mdpi.com)
• By comparing gene expression patterns during embryogenesis or tissue differentiation, we unravel the molecular events that shape organisms, advancing our understanding of developmental biology. (pharmiweb.com)

Genetics4

• Microsurgery and genetics reveal the logic of developmental control: Gene cloning and sequencing reveal. (alliedacademies.org)
• In this review, we briefly summarize the developmental mechanisms and genetics of neural crest and placodes in both jawed and jawless vertebrates. (frontiersin.org)
• In genetics and genomics research, gene expression refers to the process by which information encoded in a gene's DNA sequence is converted into functional proteins or RNA molecules. (pharmiweb.com)
• Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability. (medscape.com)

Stages10

• 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. (jefferson.edu)
• Malaria parasites have distinct small subunit ribo- morphologic features of the malaria parasite stages in the somal RNA (SSU rRNA) genes that are developmentally blood were described for the Kalimantan orangutans by regulated ( 9 ). (cdc.gov)
• A-type genes are transcribed or expressed mainly during malaria parasites of orangutans, or some other species of the asexual stages, and the S-type genes are transcribed Plasmodium cannot be determined with certainty. (cdc.gov)
• Our findings highlight fundamental and conserved differences in regulatory logic at distinct developmental stages, characterized by simpler promoter-centric regulation in embryonic cells and combinatorial enhancer-driven control in adult cells. (keystonesymposia.org)
• Different genes in the same functional clusters are expressed in the different developmental stages, suggesting that cells might change gene expression profiles from differentiation to maturation stages. (biomedcentral.com)
• When studying gene expression, researchers often compare gene expression profiles between different biological samples or experimental conditions, such as healthy and diseased tissues, treated and untreated cells, or different developmental stages. (pharmiweb.com)
• Sexual dimorphism is predicted to be constrained by the underlying genetic architecture shared between the sexes and through ontogeny, but whole-transcriptome data for both sexes across genotypes and developmental stages are lacking. (biorxiv.org)
• Within a quantitative genetic framework, we sequenced RNA from Drosophila melanogaster at different developmental stages to examine sex-biased gene expression and how selection acts upon it. (biorxiv.org)
• We found evidence that gene expression is constrained by both univariate and multivariate shared genetic variation between genes, sexes and developmental stages, but may be resolved by differential splicing. (biorxiv.org)
• We find relatively little sex-bias in embryos and larvae at the gene level, but several sub-networks show sex-biased functional interactions in early developmental stages. (lu.se)

Embryonic8

• Genes that determine the fate of a cell or CELLS in a region of the embryo during EMBRYONIC DEVELOPMENT. (ouhsc.edu)
• In the early embryonic development of a female mammal, one of the two X chromosomes is inactivated so that its genes are not read twice as often as in males. (mpg.de)
• Our study shows the effects of early alcohol exposure on human embryonic and extraembryonic cells , introduces candidate genes for alcohol-induced developmental disorders, and reveals potential biomarkers for prenatal alcohol exposure. (bvsalud.org)
• In this study, developmental analyses of HIV-1-directed gene expression in embryonic and newborn transgenic mice derived from the above lines revealed strikingly different levels and patterns of expression in the CNS and spinet cord compared with adult mice. (johnshopkins.edu)
• Reporting in the January issue of Developmental Dynamics, Northwestern researchers Hans-Georg Simon and Stuart Stock showed that bone formation in a regenerated forelimb combines elements of embryonic development and of adult wound healing. (scienceblog.com)
• Embryonic atrazine exposure elicits proteomic, behavioral, and brain abnormalities with developmental time specific gene expression signatures. (cdc.gov)
• Although the transcriptomic alterations in larval zebrafish with embryonic atrazine exposure have been reported, neither the time at which gene expression changes occur nor the resulting proteomic changes have been investigated. (cdc.gov)
• 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)

Centers for Diseas1

• About one in six children in the U.S. has at least one developmental disability or other developmental delay, according to the U.S. Centers for Disease Control and Prevention. (kdvr.com)

Expression Regulation3

• Gene Expression Regulation, Developmental" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
• This graph shows the total number of publications written about "Gene Expression Regulation, Developmental" by people in this website by year, and whether "Gene Expression Regulation, Developmental" was a major or minor topic of these publications. (jefferson.edu)
• Below are the most recent publications written about "Gene Expression Regulation, Developmental" by people in Profiles. (jefferson.edu)

Abnormalities3

• However, these changes are superimposed in individuals with reduced brain volume, especially in the hippocampus, and other developmental abnormalities, such as reduced dendritic arborizations, decreased number of spines, spine atrophy, and abnormalities of spine orientation in pyramidal neurons. (medscape.com)
• Sex chromosome abnormalities are common and cause syndromes that are associated with a range of physical and developmental problems. (msdmanuals.com)
• Testing for chromosome and gene abnormalities Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)

Genome10

• How does the genome respond to developmental signals and environmental stimuli, especially those related to social experience? (illinois.edu)
• The theme addresses these issues by studying conserved behaviors and key developmental events in a diverse set of animal models, developing gene expression, transcription-factor binding, epigenomic, and other types of genome-scale datasets with high-throughput techniques. (illinois.edu)
• These newly found MSL-linked sites in the genome were practically exclusively genes that control fly development and have a direct impact on cellular processes involved in organ formation," For example, we observed malformed wings or diminished eyes indicating that the MSL complex is directly regulating genes such as Wingless, which is a master controller of development," says Claudia Keller Valsecchi, first author of the study. (mpg.de)
• We performed genome -wide DNA methylation (DNAm) and gene expression analyses of placentas by using microarrays (EPIC, Illumina) and mRNA sequencing, respectively. (bvsalud.org)
• CRISPR/Cas9 mediated genome editing in selected loci demonstrated distal enhancers are required for gene expression in EryD but not in EryP. (keystonesymposia.org)
• This study provides a complementary genome-wide view of common gene dynamics and a broad molecular classification of mouse retina development. (biomedcentral.com)
• Published in the journal Developmental Cell, the results of this first ever genome-wide study to understand how the Ricin and PE toxins attack cells may also be useful for designing more effective antidotes against Diphtheria and Shiga-like toxins secreted by infectious strains of E. coli bacteria, such as those responsible for the recent food poisoning outbreak in Germany. (sciencedaily.com)
• In this study, the team led by IMCB Principal Investigator, Dr Frédéric Bard examined the entire human genome of about 22,000 genes to identify those genes of normal host cell processes which Ricin and PE toxins hijack in order to kill the cell. (sciencedaily.com)
• By identifying the specific host genes required for these toxins to attack the cell's protein 'factories', this study effectively singled out the attractive therapeutic targets from the entire human genome for developing antidotes that could potentially be effective against any toxins that share the same mode of action. (sciencedaily.com)
• In addition, clinical trials using either gene transfer or genome editing continue to show promise, with the potential to impact treatment for patients with a wide range of hereditary disorders in the future. (cdc.gov)

Transcriptional2

• Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)
• MicroRNAs constitute a pervasive post-transcriptional filter on protein or mRNA expression levels that are likely to control developmental timing, cellular differentiation, stress responses, metabolism and proliferation. (mdpi.com)

Target genes2

• Rather it is part of a "genetic cascade" involving so-called target genes and effector genes. (scientificamerican.com)
• Therefore, it is important to describe their mechanisms of actions, expression patterns and possible target genes and cellular pathways with which they interact. (mdpi.com)

Pervasive developm5

• Historically, pervasive developmental disorder (PDD) described a group of several disparate disorders unified under the main principle of delayed language development and deficits in social interaction. (medscape.com)
• In a study from New York, the new DSM-5 criteria for ASD were found to identify 91% of children previously diagnosed with pervasive developmental disorder (PDD) on the basis of DSM-IV criteria. (medscape.com)
• Under DSM-IV , pervasive developmental disorder included four separate disorders: autistic disorder, Asperger's disorder, childhood disintegrative dsorder, and Rett syndrome in addition to the catch-all diagnosis of pervasive developmental disorder not otherwise specified (PDD-NOS). (medscape.com)
• Most individuals diagnosed with a pervasive developmental disorder (PDD) from DSM-IV should still meet the criteria for ASD in DSM-5 or another, more accurate DSM-5 diagnosis. (medscape.com)
• A special education professional may be needed to design a specific curriculum for each child with pervasive developmental disorder (PDD). (medscape.com)

Immune related genes1

• In this retrospective multi-cohort study, we investigated whether combining pyroptosis- and immune-related genes improves prognostic classification of AML patients. (nature.com)

Pluripotency-associated2

• Diagnostic clinical relevance of developmental pluripotency-associated 2 (DPPA2) in colorectal cancer. (nih.gov)
• Chromatin modifier developmental pluripotency associated factor 4 (DPPA4) is a candidate gene for alcohol-induced developmental disorders. (bvsalud.org)

Mutations12

• We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. (nature.com)
• Figure 2: Targeted sequencing highlights genes reaching significance for de novo mutations and private disruptive variant burden. (nature.com)
• Recurrent de novo mutations implicate novel genes underlying simplex autism risk. (nature.com)
• The de novo mutations in genes that create proteins are a well-established cause of developmental disorders, but to date many of the genes linked to these disorders remain unknown. (sciencedaily.com)
• The authors then used an improved statistical test to determine whether individuals in the study had more mutations in the same gene than they would expect to occur by chance. (sciencedaily.com)
• MCSZ is caused by mutations in the PNKP gene. (medlineplus.gov)
• PNKP gene mutations lead to production of an unstable enzyme that is quickly broken down in the cell. (medlineplus.gov)
• which means both copies of the gene in each cell have mutations. (medlineplus.gov)
• Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. (medlineplus.gov)
• Gene expression profiles obtained without artifacts introduced by isolation procedures or gene mutations provide a valuable overview of retina development under natural developmental conditions. (biomedcentral.com)
• Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
• No evidence of patients and even within the same gene is expected somatic mutations was found in this study. (cdc.gov)

Embryo4

• We hypothesize that early alcohol-induced epigenetic changes disrupt the accurate developmental programming of embryo and consequently cause the complex phenotype of developmental disorders. (bvsalud.org)
• Still, insulin is frequently used at supraphysiological concentrations for embryo in vitro culture with unknown consequences for the developmental potential of the offspring. (slu.se)
• In the present study we investigated the effects of insulin exposure during in vitro bovine oocyte maturation on developmental rates, embryo quality and gene expression. (slu.se)
• 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)

Genetic6

• Intriguingly, the researchers were able to identify let-7 s target gene in the fly and in vertebrates, which suggests that the entire genetic cascade has been conserved over the course of evolution. (scientificamerican.com)
• The authors collated anonymised healthcare and research data to create the largest available genetic resource for developmental disorders. (sciencedaily.com)
• A rare genetic neurometabolic disease characterized by microcephaly short stature epilepsy cerebral hypomyelination severe global developmental delay and progressive spasticity. (globalgenes.org)
• The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
• We develop a computational model for the hematopoietic erythroid-myeloid lineage decision, which is determined by a genetic switch involving the genes PU.1 and GATA-1. (lu.se)
• We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. (who.int)

Behavioral5

• Mutation of regulatory network components determines inborn aspects of interspecies and individual diversity, while epigenetic modifications in response to environment and experience fine-tune inborn diversity and underlie processes of developmental and behavioral plasticity. (illinois.edu)
• How do alterations in regulatory networks - through mutation, epigenomic changes, or other - translate into behavioral and developmental diversity and plasticity? (illinois.edu)
• Alexander qualified for five Early Intervention therapies in summer 2021, physical, occupational, developmental, behavioral and speech when he was about a year old. (kdvr.com)
• Consult a child psychiatrist and/or a developmental/behavioral pediatrician to evaluate and treat comorbid diagnoses such as depression, ADHD, or OCD and to lead a multidisciplinary team for case management, which may include family psychoeducational therapy, psychopharmacologic treatment, speech therapy, occupational therapy, physical therapy, and behavioral therapy. (medscape.com)
• Certain behaviors may require medication prescribed by a child and adolescent psychiatrist or behavioral-developmental pediatrician. (medscape.com)

Differences3

• All animal species exhibit certain fundamental similarities in form and behavior, but also many striking differences despite very similar complements of genes. (illinois.edu)
• DEGs, or Differentially Expressed Genes, are genes whose expression levels show significant differences between two or more conditions or experimental groups. (pharmiweb.com)
• These developmental differences are caused by differential expression of genes and isoforms. (lu.se)

Sexes1

• In flies, the MSL complex has emerged as a molecular balancing mechanism to ensure the same amount of gene output in both sexes. (mpg.de)

Environmental stimuli2

• Numerous environmental stimuli can alter the DNA methylation that occurs for ERα, glucocorticoid receptors, as well as many other critical genes involved in neuronal development. (uky.edu)
• DGE analysis elucidates how genes respond to environmental stimuli, such as heat stress, chemical exposure, or pathogen infection. (pharmiweb.com)

Researchers3

• According to a study published today in the journal Nature, researchers at Massachusetts General Hospital and Harvard Medical School have discovered that a tiny RNA gene known to regulate development in the roundworm Caenorhabditis elegans is found in the genomes of all animals whose left and right sides are basically identical. (scientificamerican.com)
• By employing a range of diverse biological systems, researchers aim to extract the essential features of networks that have evolved to control plasticity in neural and developmental contexts. (illinois.edu)
• By analyzing the expression levels of thousands of genes simultaneously, researchers can identify genes that are upregulated (higher expression) or downregulated (lower expression) in one condition compared to another. (pharmiweb.com)

Disorders13

• Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. (nature.com)
• Research into the causes of developmental disorders has identified 285 genes linked to these conditions, including 28 newly-associated genes. (sciencedaily.com)
• They estimate about 1,000 genes linked to developmental disorders remain to be discovered, requiring more open access to healthcare data. (sciencedaily.com)
• Analysis of the data estimates that around 1,000 genes linked to developmental disorders remain to be discovered. (sciencedaily.com)
• These developmental disorders can lead to conditions such as intellectual disability, epilepsy, autism or heart defects. (sciencedaily.com)
• Ongoing initiatives, such as the Deciphering Developmental Disorders (DDD) study, have discovered associated genes by looking for patterns in the genomes of people with these disorders. (sciencedaily.com)
• Dr Kaitlin Samocha, a first author of the study from the Wellcome Sanger Institute, said: "From previous studies we know that certain genes and types of mutation are more strongly linked to developmental disorders, which has allowed us to narrow our search. (sciencedaily.com)
• Combined with a much larger dataset, this has enabled us to identify 28 novel genes associated with developmental disorders. (sciencedaily.com)
• But our findings also estimate that we require ten times as much data to be able to identify all the genes linked to developmental disorders. (sciencedaily.com)
• Practical applications may include the development of medical therapeutics for mental health, aging, and developmental disorders. (illinois.edu)
• Gene Therapy Approaches for the Treatment of Retinal Disorders. (umassmed.edu)
• Huerta M, Bishop SL, Duncan A, Hus V, Lord C. Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM-IV Diagnoses of Pervasive Developmental Disorders. (medscape.com)
• The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders. (medscape.com)

Regulate3

• It is likely that conserved networks that regulate gene expression underlie most of the similarities, and that alterations in those regulatory networks can explain many aspects of biological diversity. (illinois.edu)
• The team lead by Asifa Akhtar suggests that the origin of the MSL complex lay in the regulation of these developmental genes and was later reused also to regulate dosage compensation. (mpg.de)
• Introduction regulate choices of expressed genes as part of the macrophage/ neutrophil lineage. (lu.se)

Autism1

• Most recently, students have targeted autism genes, thyroid genes and immune modulators, several of which have already led to publications. (cshl.edu)

Chromatin4

• 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)
• 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)

Distinct3

• Hence, developmentally regulated, lineage-specific transcription of the lck gene is mediated by distinct promoter sequences that appear to be capable of functioning independently. (rupress.org)
• Within the same functional classes, however, different gene populations were expressed in distinct developmental phases. (biomedcentral.com)
• Each cell population has its own distinct developmental features and generates unique cell types. (frontiersin.org)

Pathways2

• Furthermore, common genes with alcohol-associated DNAm changes in placenta and hESCs were linked exclusively to the neurodevelopmental pathways in the enrichment analysis , which emphasizes the value of placental tissue when analyzing the effects of prenatal environment on human development . (bvsalud.org)
• By subjecting DEGs to gene ontology enrichment analysis, pathway analysis, or functional annotation, we gain insights into the biological processes, molecular functions, and pathways associated with the observed gene expression changes. (pharmiweb.com)

DELAY3

• Microcephaly, seizures, and developmental delay (MCSZ) is a condition characterized by an abnormally small head size (microcephaly) and neurological problems related to impaired brain development before birth. (medlineplus.gov)
• Newly diagnosed with MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome? (globalgenes.org)
• We report a child from a highly inbred Omani family with hypoparathyroidism, growth failure, developmental delay and a distinctive facial appearance. (nih.gov)

Delays in children1

• Early Intervention was created in 1986 to address developmental delays in children like Alexander as soon as possible. (kdvr.com)

Genomic3

• They identified genomic islands of speciation between them, containing potentially adaptive genes associated with mate choice. (biomedcentral.com)
• This alignment process enables the determination of the origin of each read, allowing us to associate it with specific genes or genomic regions. (pharmiweb.com)
• 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)

Regulation of gene ex2

• An understanding of the molecular mechanisms driving this developmental regulation of gene expression is critical for understanding the complex events that determine lasting brain physiology and prime the plasticity of neurons. (uky.edu)
• Sexual dimorphism requires regulation of gene expression in developing organisms. (lu.se)

Autosomal2

• 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)
• Human ortholog(s) of this gene implicated in autosomal dominant hypocalcemia 2 and familial hypocalciuric hypercalcemia 2. (nih.gov)

Mice3

• We generated mice that possess a heterozygous deletion of the PTG gene. (jci.org)
• As previously reported, transgenic mice bearing functional proximal promoter sequence juxtaposed with the SV40 large T antigen gene invariably develop lymphoid tumors confined to the thymus. (rupress.org)
• In the current work, transgenic mice bearing a 2.6-kb fragment of the human distal promoter fused to the SV40 large T antigen gene express large T antigen in thymocytes and in peripheral lymphoid cells, and develop tumors of both the thymus and the peripheral lymphoid organs. (rupress.org)

Chromosome7

• If not, in phenomena such as Haploinsufficiency, aneuploidy or other forms of chromosome abnormality, these gene dosage alterations can cause severe defects ultimately resulting in developmental failures and disease. (mpg.de)
• While females have two X chromosomes in their somatic cells, males possess only one X and one copy of the Y chromosome, which contains only very few genes. (mpg.de)
• Flies do the opposite: if they are male, the genes on their X chromosome are read twice as much as in females. (mpg.de)
• They studied how exactly a group of proteins and non-coding RNAs, namely the MSL complex increases the gene expression of the single X chromosome in male flies to achieve the same dosage as XX females. (mpg.de)
• But instead of up-regulating the transcription of one entire X chromosome with several hundred genes, here it only targets individual genes. (mpg.de)
• We always wondered how dosage compensation as a process to equalize gene expression of one entire chromosome could arise in the evolution of these insects," explains Asifa Akhtar the main motivation of the study. (mpg.de)
• It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)

Neuroscience1

• International Journal of Developmental Neuroscience , 31 (6), 448-451. (uky.edu)

Phenotypes1

• During the course, the students will analyze any phenotypes generated from CRISPR/Cas9 based gene depletion while learning the diverse array of techniques available in Xenopus . (cshl.edu)

Birth Defects2

• MSK investigators have shown that a mutation in a gene called PTEN that's linked to many kinds of cancer can also cause birth defects of the nervous system. (mskcc.org)
• A gene known for its ability to form blood vessels has been found to be a key player in a chromosomal abnormality that causes potentially devastating birth defects in the heart and throughout the body. (scienceblog.com)

Analyses3

• Phylogenetic analyses showed that no single species tree can efficiently represent all species relationships, suggesting high levels of repeatedly occurring gene flow. (biomedcentral.com)
• After orangutans in Indonesia were reported as infect- structed by using orthologous genes and must include as ed with Plasmodium cynomolgi and P. vivax , we conducted phylogenetic analyses of small subunit ribosomal RNA gene many species sequences as possible. (cdc.gov)
• les analyses génétiques réalisées sur six d'entre eux ont révélé une délétion de 12 bp (155-166 del) dans l'exon 3 localisé en 1q42-43 dans le gène TBCE codant la protéine chaperon E spécifique de la tubuline. (who.int)

Clinical Trials2

• In this presentation, Drs. Rivella and Sheth will review the status of the FDA-approved gene therapy process for thalassemia, discussing the science behind it, the results of the clinical trials associated with it, and the clinical implications as gene therapy begins to be applied in a real-world setting. (cdc.gov)
• In addition, they will explore future clinical trials involving potential alternative gene therapy treatments. (cdc.gov)

Cell6

• Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals. (globalgenes.org)
• How overall principles of cell-type-specific gene regulation (the "logic") may change during ontogeny is largely unexplored. (keystonesymposia.org)
• Among the later increased population, only about 40% genes are correlated with rod photoreceptors, indicating that multiple cell types contributed to gene expression in this phase. (biomedcentral.com)
• With RNA-seq , we can capture and quantify the abundance of transcripts, revealing the dynamic landscape of gene expression within a cell or tissue. (pharmiweb.com)
• However, prior to commitment, it has been cells, it is evident that GATA-1 and PU.1 are able to specify observed that many genes are expressed at intermediate or basal erythroid and myeloid cell fates (see [16] and references therein). (lu.se)
• Developmental Cell. (lu.se)

Humans4

• Creatures as diverse as worms, sea urchins, flies, fish and humans may all march to the beat of the same drummer when it comes to developmental timing. (scientificamerican.com)
• Protein enabled homolog is a protein that in humans is encoded by the ENAH gene. (wikipedia.org)
• For example, humans gether with the A-type, S-type, and O-type SSUrRNA gene are natural hosts for P. falciparum, P. vivax, P. malaria, sequence data for various Plasmodium spp. (cdc.gov)
• This finding raises the possibility that other zoonotic A-type SSU rRNA genes and that the VS63 sequence rep- malaria parasites may emerge in humans. (cdc.gov)

Variants3

• Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
• The CLN5 subtype is caused by a variants in the CLN5 gene, which leads to disruption of normal protein function. (rochester.edu)
• Third, even using currently available comprehensive arrays, tissue-specific genes are still under-represented, including alternatively spliced variants or genes that are only briefly expressed in a tissue-specific pattern. (biomedcentral.com)

Variation1

• This analysis enables us to pinpoint genes that play pivotal roles in phenotypic variation, disease development, or response to treatments. (pharmiweb.com)

Interactions2

• Dynamical models based upon known interactions between these master genes, such as mutual antagonism and autoregulation, fail to make the system bistable, a desired feature for robust lineage determination. (lu.se)
• The effect of expressing a gene is also influenced by which other genes are simultaneously expressed (functional interactions). (lu.se)

Regulatory networks3

• These "first responders," including transcription factors, signaling molecules, and regulatory RNAs, interact within regulatory networks to control sequential cascades of downstream genes. (illinois.edu)
• Our goal is to define gene regulatory networks that underlie the expression of complex patterns of development and behavior, and to understand how those networks are shaped by mutation and epigenetic events to craft individual and species diversity. (illinois.edu)
• What are the major components of those mechanisms, and how are they integrated into gene regulatory networks? (illinois.edu)

Sequences2

• Each trio includes sequences from a child with a developmental disorder, plus both of their parents. (sciencedaily.com)
• It has been the albumin and AFP genes contain a number of regulatory sequences important for their expression. (princeton.edu)

Processes1

• Second, a broader spectrum of experimental points during developmental processes leads to increased costs, especially when using common comprehensive arrays. (biomedcentral.com)

Exhibit2

• In contrast to EryP-specific genes, which exhibit promoter-centric regulation through Gata1, EryD-specific genes employ distal enhancers for long-range regulation through enhancer-promoter looping, confirmed by Gata1 HiChIP. (keystonesymposia.org)
• Statistical methods are employed to identify genes that exhibit significant changes in expression between experimental conditions. (pharmiweb.com)

Regulators2

• Finally, we discover that sex-biased networks are enriched by genes specific to the Nasonia clade, and that those genes possess the topological properties of key regulators. (lu.se)
• These findings suggest that regulators in sex-biased networks evolve more rapidly than regulators of other developmental networks. (lu.se)

Reproductive1

• Consilience and Life History Theory: From genes to brain to reproductive strategy. (bvsalud.org)

MeSH1

• Genes, Developmental" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)

MicroRNAs1

• Since the first microRNA was identified in 1993 by Victor Ambros and colleagues (the lin-4 heterochronic gene in C. Elegans ), more than 24,000 microRNAs have now been identified. (mdpi.com)

Transgenic2

• In the course of our studies concerning the evolution of Hox gene regulation, we produced a transgenic mouse model expressing fish Hox genes, which displayed a reduced number of thoraco-lumbar vertebrae and concurrent sacral homeotic transformations. (nih.gov)
• A transgenic mouse model using the LTRs of two CNS-derived strains of HIV-1 (HIV-1 JR-CSF and HIV-1 JR-FL ) has been developed to study HIV-1 gene expression in vivo. (johnshopkins.edu)

Significance2

• Despite the significance of this developmental feat, its evolutionary origins have remained unclear, owing largely to the fact that there has been little comparative (evolutionary) work done on this topic between the jawed vertebrates and cyclostomes-the jawless lampreys and hagfishes. (frontiersin.org)
• After identifying Differentially Expressed Genes (DEGs), we delve deeper into their functional significance. (pharmiweb.com)

Patterns1

• Six individual gene expression clusters were identified based on expression patterns of transcripts through retina development. (biomedcentral.com)

Chromosomes2

• For the first time, they were able to show that the MSL complex also controls essential developmental genes on other chromosomes. (mpg.de)
• It has to be ensured that genes on these chromosomes are read equally to generate the same amount of output. (mpg.de)

Differential expression2

• These data suggest that there is differential expression of the SRIF gene in different regions of the brain and in the stomach during development. (northwestern.edu)
• In contrast, sex-bias in pupae and adults is driven by the differential expression of genes. (lu.se)

Protein2

• Additional methods include mRNA in situ hybridization and protein immunohistochemistry as well as basic bioinformatic techniques for gene comparison and functional analysis. (cshl.edu)
• DNA Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)