Certain gene deletion. Medical search. Frequent questions

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
Five of the 11 grade III astrocytomas (glioblastoma multiforme), but only one of seven grade II astrocytomas (anaplastic astrocytoma) and none of either the grade I astrocytomas or oligodendrogliomas demonstrated distinct point mutations involving the TP53 gene. (nih.gov)
Duchenne muscular dystrophy (DMD) is a progressive muscle disease caused by loss of function mutations in the Dystrophin gene resulting in loss of dystrophin protein. (gene-tools.com)
Mutations in the common γ-chain (γc) of cytokine receptors, including those for IL-2, IL-4, IL-7, IL-9, and IL-15, are responsible for an X-linked form of the disease, while mutations of several other genes, including Janus-associated kinase-3, may cause autosomal recessive forms of SCID. (aston.ac.uk)
One group of mice had only the mutations, while the other group had mutations and the Hgma2 gene deleted. (medicalnewstoday.com)
The mice that had the stem cell mutations and an intact Hgma2 gene developed melanomas, while the mice with the mutations and the deleted Hgma2 gene stayed healthy. (medicalnewstoday.com)
Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations. (nih.gov)
Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML. (nih.gov)
Clinically Significant CUX1 Mutations Are Frequently Subclonal and Common in Myeloid Disorders With a High Number of Co-mutated Genes and Dysplastic Features. (nih.gov)
When patients with heterozygous deletion of 13q14.3 were analysed for mutation of either clone 1 or 2:2, the majority did not have mutations demonstrated within the retained allele. (ucl.ac.uk)
Some mutations shuffle the genetic code, others come from the deletion of key genes. (news-medical.net)
Three studies have identified individuals with dominantly inherited obesity segregating with mutations in the MC4R gene. (psu.edu)
Although mutations or deletions of the SMARCB1 gene play a role in the development of MRT, the events that incite these genetic alterations are unknown. (medscape.com)
Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. (lu.se)
Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. (lu.se)
Clinical and biochemical characteristics of HPT were apparently unrelated to the presence or absence of LOH and the MEN1 gene mutations. (lu.se)
However, the demonstration of LOH at 11q13 and MEN1 gene mutations in small parathyroid adenomas of patients with slight hypercalcemia and normal serum PTH levels suggest that altered MEN1 gene function may also be important for the development of mild sporadic pHPT. (lu.se)
The focal dermal hypoplasia (FDH) genetic defect has been associated with at least 80 different mutations in the PORCN gene of the X chromosome (Xp11.23). (medscape.com)
Studies indicate that focal dermal hypoplasia (FDH) is usually caused by mutations of the PORCN gene, mapped to locus Xp11.23. (medscape.com)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
[ 6 ] However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. (medscape.com)
Some mutations in the S gene may lead to changes in the spike protein which result in inhibition of contact and entry of the virus into human cells, however in the case of the VOC, they contain mutations in the S gene that enhance the process of contact and entry into human cells, increasing transmissibility of the virus. (who.int)
Overall, these assays and approaches detect specific mutations or features such as insertions, deletions and point mutations in the SARS CoV-2 genome that are characteristic of a particular VOC/VOI using PCR. (who.int)
Currently, manufacturers are focusing on and targeting assays to mutations in the S gene. (who.int)
Large-scale mutations such as gene duplications and deletions add and remove network components, whereas smaller mutations alter the connections between them. (lu.se)

Recent molecular genetic analyses of astrocytomas have demonstrated frequent chromosome 17 deletions involving the telomeric region of the short arm (17p12-pter). (nih.gov)
Lu P, ElMallah MK, Liu Z, Wu C, Chen J, Lifshitz LM, ZhuGe R. Genetic deletion of the Tas2r143/Tas2r135/Tas2r126 cluster reveals that TAS2Rs may not mediate bitter tastant-induced bronchodilation. (umassmed.edu)
As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population. (molvis.org)
The detailed genetic analysis of the Duchenne/Becker muscular dystrophy gene is hindered by the large number of exons involved and their separation by huge introns. (bmj.com)
These data demonstrate genetic deletion of miR-146a is sufficient to increase dystrophin rescue via exon skipping. (gene-tools.com)
To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause. (medlineplus.gov)
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes - chromosome 22. (wikipedia.org)
Identifying genes on each chromosome is an active area of genetic research. (news-medical.net)
Association of genetic variations in antioxidant enzyme genes with diisocyanate -induced asthma in exposed workers. (cdc.gov)
A case-control study was conducted to investigate whether genetic variations within antioxidant enzyme genes, glutathione S-transferases (GSTM1- GSTT1, GSTM3, GSTP1), manganese superoxide dismutase (MnSOD) and microsomal epoxide hydrolase (EPHX1), play a role in susceptibility to DA. (cdc.gov)

Fluorescence in situ hybridization (FISH) is a molecular pathological method with high sensitivity and specificity, which uses specific DNA probes to detect chromosomal aberrations, as well as gene deletion and amplification ( 21 , 22 ). (spandidos-publications.com)
Chromosomal deletion syndromes occur when part of a chromosome is missing. (msdmanuals.com)
These syndromes are called chromosomal deletion syndromes. (msdmanuals.com)
Chromosomal deletions can be suspected before or after birth and confirmed by chromosomal testing. (msdmanuals.com)

This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. (medlineplus.gov)
Goldenhar and Cri-du-chat syndromes: a contiguous gene deletion syndrome? (bvsalud.org)

22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. (medlineplus.gov)
People with 22q11.2 deletion syndrome commonly have heart abnormalities that are often present from birth, recurrent infections caused by problems with the immune system, and distinctive facial features. (medlineplus.gov)
Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. (medlineplus.gov)
Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention-deficit/hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorder that affect communication and social interaction. (medlineplus.gov)
Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. (medlineplus.gov)
22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. (medlineplus.gov)
Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. (medlineplus.gov)
Very little is known about the magnitude of the risk for malignancy associated with distal 22q11.2 deletion syndrome but it is advised that people with a deletion that includes the SMARCB1 gene undergo careful, prolonged monitoring for this type of tumor. (wikipedia.org)
citation needed] 22q11.2 deletion syndrome RESERVED, INSERM US14-- ALL RIGHTS. (wikipedia.org)

This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. (umassmed.edu)
We report here that a homozygous 6-bp deletion in the gene encoding CD45 (PTPRC, gene map locus 1q31-32), which results in a loss of glutamic acid 339 and tyrosine 340 in the first fibronectin type III module of the extracellular domain of CD45, is associated with failure of surface expression of CD45 and SCID. (aston.ac.uk)
Using this technique, we deleted the lipase locus in the C. parapsilosis genome consisting of adjacent genes CpLIP1 and CpLIP2. (elsevierpure.com)
Cytogenetic, fluorescence in situ hybridization (FISH), and loss-of-heterozygosity (LOH) studies have revealed that MRTs frequently contain deletions at chromosome locus 22q11.1. (medscape.com)
Positional cloning efforts revealed that this locus contains the SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 ( SMARCB1 ) gene, also known as human sucrose non-fermenting gene number 5 ( hSNF5 ), integrase interactor 1 ( INI1 ) , or 47-Kd Brg1/Bam -associated factor ( BAF47 ). (medscape.com)
Disruption of the DLX5/DLX6 genes , mapping within the SHFM1 locus, is now known to be responsible for the phenotype . (bvsalud.org)

Large deletions and genomic rearrangements are rare. (altmetric.com)
We have been studying the molecular basis of the phenotype of individuals with large deletions of chromosome 18q. (psu.edu)

The MAPK1 gene in mice has been shown to contribute to social behavior and therefore may play a role in the behavioral problems found in some people with 22q11.2 distal deletion syndrome. (wikipedia.org)

We generated mice that possess a heterozygous deletion of the PTG gene. (jci.org)
Mehregan A, Ardestani G, Akizawa H, Carvacho I, Fissore R. Deletion of TRPV3 and CaV3.2 T-type channels in mice undermines fertility and Ca2+ homeostasis in oocytes and eggs. (umassmed.edu)
To test the hypothesis that miR-146a is inhibitory to exon skipping dystrophin restoration, we generated a novel DMD double knockout mouse model with body-wide miR-146a deletion ( 146aX mice) and administered an exon 51 skipping PMO into the tibialis anterior (TA) muscles of mdx52 and 146aX mice. (gene-tools.com)
This work defines the neurobehavioral response to traumatic brain injury (TBI) modeled by controlled cortical impact in wild-type mice and in mice carrying gene-targeted deficiencies of individual components of the lectin pathway of complement activation to identify the key components contributing to pathology. (researchsquare.com)
To further examine the relationship between motivated appetitive behaviours and relaxin-3/RXFP3 signalling, we investigated the effect of Rxfp3 gene deletion in C57BL/6J mice on sucrose and alcohol self-administration and cue-induced reinstatement (RNST) of sucrose- and alcohol-seeking. (edu.au)
In this study, we evaluated the specific contribution of iNOS to fracture healing by using iNOS gene therapy in iNOS-deficient mice. (edu.au)
Specimens were loaded to failure torsionally in a biaxial INSTRON testing system, and maximum torque, torsional stiffness, and maximal and total energy were determined.Deletion of the iNOS gene decreased the total and maximum energy absorption of the healing femoral fracture by 30% and by 70% (P P = 0.01) in comparison to iNOS(-/-) mice that did not receive the iNOScDNA. (edu.au)
To examine its role in RP progression we characterized the expression profile of Tlr2 and its adaptor molecules and the consequences of Tlr2 deletion in two genetically distinct models of RP: Pde6brd10/rd10 (rd10) and RhoP23H/+ (P23H/+) mice. (ucm.es)
In rd10 mice, deletion of a single Tlr2 allele had no effect on visual function, as evaluated by electroretinography. (ucm.es)

To test this idea, the study surveyed 33 individuals with loss of the ACTB gene (either from a 7p22 deletion, or from a mutation within the gene itself) and analyzed their clinical symptoms. (chromodisorder.org)
The TP53 gene mutation is the most common gene alteration in many tumors, including esophageal cancer. (spandidos-publications.com)
Although the biological significance of TP53 gene mutation is well characterized, its clinical significance in esophageal cancer remains controversial, especially as a prognostic biomarker. (spandidos-publications.com)
Therefore, the overexpression of p53 does not always indicate a mutation in the TP53 gene. (spandidos-publications.com)
In the two WT cases, two novel alterations were detected: a complex deletion of APC and a pathogenic mutation of LAMTOR2. (dtrf.org)
It has been hypothesized that the mutation found in these subjects resulted in a loss of gene function resulting in obesity due to haploinsufficiency of the MC4R gene. (psu.edu)
SUMMARY A direct correlation between HIV infection and mutation in the chemokine receptor ( CCR5 ) gene has been established. (who.int)
HIV-1 is influenced by a mutation in the 1 infection with a typical delay of 2-4 years chemokine receptor ( CCR5 ) gene [ 3,4 ]. (who.int)
This separation into positive and negative regulators requires gene duplications, which highlights the interplay between mutation and selection in shaping the transcriptional networks. (lu.se)

Homozygosity mapping and position of known epidermolysis bullosa candidate genes in the cattle genome. (biomedcentral.com)
Genes on chromosome 9 are among the estimated 20,000 to 25,000 total genes in the human genome. (news-medical.net)
A PCR-based gene deletion strategy was used to generate deletions of each ORF in the yeast genome. (biocat.com)
Current diagnostic PCR assays target a variety of SARS CoV-2 genes and the vast majority target sequences in regions of the SARS CoV-2 genome that are highly conserved. (who.int)

Using reverse transcription and nested PCR, we show here a comprehensive strategy for the rapid and complete analysis of the coding sequences from complex genes and illustrate its potential by the identification of a hitherto undescribed single exon deletion. (bmj.com)
By screening a peripheral leucocyte cDNA library with this putative exon a candidate tumour suppressor gene cDNA was isolated. (ucl.ac.uk)
The third exon of this clone also lies within our minimal region of deletion. (ucl.ac.uk)
Using CGH array and NGS analysis we detected a microdeletion (184 kb) involving the promoter region and exon 1 of CHD7 gene and the flanking RAB2 gene. (altmetric.com)

Here, we have used reverse genetics to address the function and significance of the largest intron in the extremely large gene PRKN, which is highly fragile in our model system. (ku.dk)

The present observation suggests that deletion limited to the regulatory region of CHD7 is sufficient to cause the full blown CHARGE phenotype. (altmetric.com)

The aim of the work described in this thesis was to define the region of minimal deletion at chromosome 13q14.3 in our patients with B-cell CLL and to then isolate and characterise candidate tumour suppressor gene cDNAs from this genomic region. (ucl.ac.uk)
The exons of clone 1 span a genomic distance of over 450kb with exons 2, 3 and 4 lying within our minimal region of deletion. (ucl.ac.uk)

Within the 7p22 region is ACTB , a gene which encodes the protein β-actin. (chromodisorder.org)
The ACTB gene encodes for a protein called β-actin, which is expressed throughout the body and is involved with a number of processes. (chromodisorder.org)
PORCN , a member of the porcupine (PORC) gene family, encodes transmembrane endoplasmic reticulum proteins that target Wnt signaling proteins. (medscape.com)
The S gene is one of the structural genes of the virus which encodes for a protein that sits on the surface of the SARS CoV-2 virus. (who.int)

The commonest structural cytogenetic abnormality seen in B-cell CLL is deletion of chromosome 13q13.4 and it is likely that a tumour suppressor gene lies within this deleted region. (ucl.ac.uk)

In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. (medlineplus.gov)

Genes were removed using pairs of cas9 plasmids that were designed with sgRNA that targets regions upstream and downstream of the gene to be deleted. (uu.nl)

Although the gene(s) responsible for the clinical features associated with 22q11.2 distal deletion syndrome have not been clearly defined, several potential candidate genes have been suggested. (wikipedia.org)

To our knowledge, angiotensin converting enzyme ( ACE ) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene. (molvis.org)
Scholars@Duke publication: Correlates of Prenatal and Early-Life Tobacco Smoke Exposure and Frequency of Common Gene Deletions in Childhood Acute Lymphoblastic Leukemia. (duke.edu)

CDC is aware of three mpox virus (MPXV) cases in California in which preliminary data show a significant deletion in the tumor necrosis factor (TNF) receptor gene. (cdc.gov)
At this point, the TNF receptor gene deletion is rare. (cdc.gov)
Molecular laboratory developed tests (LDTs) designed using the CDC published primers and probes that specifically target mpox virus did NOT detect the virus because of the TNF receptor gene deletion in these specimens. (cdc.gov)
CDC will update the published primer and probe sequence information to alert test developers of this TNF receptor gene deletion. (cdc.gov)
The present findings indicate that the deletion of the sst2 receptor gene produces chronic hypercorticosteronemia and exacerbates sensitivity to stressors which over time, have consequences on ageing brain function processes. (bordeaux-neurocampus.fr)

The TP53 gene plays an important role in regulating the cell cycle, apoptosis and DNA damage repair ( 8 , 9 ). (spandidos-publications.com)
Wild-type TP53 can inhibit the cell cycle and activate apoptosis-related genes that induce apoptosis and regulate cell proliferation ( 10 ). (spandidos-publications.com)
Expression of 205 cell signalling and apoptosis genes were compared by cDNA array among cases with different chromosome abnormalities. (nebraska.edu)
In addition, the 11q23 deletion group was associated with a unique gene expression pattern involving cell signalling and apoptosis genes. (nebraska.edu)

We assessed the effect of allelic deletions in the GSTM1 and GSTT1 genotypes on lung cancer overall survival through a systematic review of the scientific literature after applying predefined inclusion and exclusion criteria. (nih.gov)

The EPHX1 SNP (rs2740171) and GSTT1 gene deletion were associated with altered risk of developing DA after adjusting for potential confounders. (cdc.gov)
Since EPHX1 and GSTT1 genes are important components of lung defense against oxidative stress, variations in these genes which regulate their expression may represent important disease modifiers and contribute to DA susceptibility. (cdc.gov)

Very distal deletions including the SMARCB1 gene are associated with an increased risk of malignant rhabdoid tumors. (wikipedia.org)
Most persons with 22q11 distal deletions do not have deletion of the SMARCB1 gene. (wikipedia.org)

Intriguingly, the intron sizes of extremely large genes are conserved between mammals and birds. (ku.dk)
Specifically, we have introduced an 80-kilobase deletion in intron 7 of PRKN. (ku.dk)

The D allele of angiotensin I-converting enzyme gene insertion/deletion polymorphism is associated with the severity of atherosclerosis" Clinical Chemistry and Laboratory Medicine , vol. 46, no. 4, 2008, pp. 446-452. (degruyter.com)
Niemiec, P., Zak, I. and Wita, K. (2008) The D allele of angiotensin I-converting enzyme gene insertion/deletion polymorphism is associated with the severity of atherosclerosis. (degruyter.com)

This region contains a candidate tumor suppressor gene, TP53, which has recently been implicated in the etiology of a broad array of human cancers. (nih.gov)

The targeted gene was replaced with a KanMX cassette and tagged with one or two unique 20mer barcode sequences. (biocat.com)

Targeted gene deletions include: the recognition subcomponents ficolin-A, CL-11, MBL-C and MBL-A, both individually and combined, and the serine proteases MASP-1, MASP-2 and MASP-3. (researchsquare.com)
CDC2, a serine/threonine kinase, was overexpressed in the 11q23 deletion group (P = 0.0004) and confirmed by Taqman™ real-time polymerase chain reaction. (nebraska.edu)

22q11.2 distal deletion syndrome seems to occur equally often in males and females. (wikipedia.org)
It seems that the 22q11.2 distal deletion can be "silent" and it is unknown how many people may have a silent form of this syndrome. (wikipedia.org)
This is hereditary and people affected by distal deletion syndrome have a 50/50 chance of passing it to their children. (wikipedia.org)
citation needed] The features of 22q11.2 distal deletion syndrome are likely to be the result of the loss of a number of different genes found in this region. (wikipedia.org)
citation needed] CRKL and MAPK1 genes have been suggested to have a role in the heart anomalies that are common in 22q11.2 distal deletion syndrome. (wikipedia.org)
MAPK1 has also been suggested to be associated with placental development and therefore having one copy of this gene missing in 22q11.2 distal deletion syndrome may be linked to the tendency for premature birth and IUGR. (wikipedia.org)

No major differences were found between the wildtype and the deletion strains for all properties. (uu.nl)

Further studies are necessary to understand the magnitude of the effect of the deletion of both genes on lung cancer survival. (nih.gov)
This characteristic of the TP53 gene limits the use of IHC in TP53 gene research, which may be the cause of the conflicting results in the study of TP53 in esophageal cancer. (spandidos-publications.com)
Moreover, CFSs are hotspots for deletions and amplifications in cancer genomes. (ku.dk)
They may also have found a way to stop skin cancer in its tracks using a gene target. (medicalnewstoday.com)

The researchers hypothesized that a gene called Hgma2 is expressed in the skin when exposed to UV radiation. (medicalnewstoday.com)
Although the findings are promising, the researchers note that more studies need to be completed to improve our understanding of the Hgma2 gene. (medicalnewstoday.com)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (news-medical.net)

Public health laboratories and select commercial laboratories use the CDC FDA cleared NVO test, which can correctly identify Orthopoxvirus when the TNF gene deletion occurs. (cdc.gov)
The deletion occurs near the middle of the chromosome at a location designated q11.2. (medlineplus.gov)

Use a multiplex assay that targets multiple viral genes, or an assay that targets an essential viral gene which is unlikely to mutate, or an assay that detects non-variola Orthopoxvirus . (cdc.gov)
The viral S gene is important as it codes for the Spike protein which is the molecule that makes contact with, and allows entry of the virus into susceptible host cells, causing infection. (who.int)

Tumor protein 53 ( TP53 ) is a recognized tumor suppressor gene located on chromosome 17q13.1. (spandidos-publications.com)

Living organisms need to regulate their gene expression in response to environmental signals and internal cues. (lu.se)

The loss of another gene, COMT , in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. (medlineplus.gov)

Note, that 8 out of 18 EB genes including LAMC2 are located in homozygous regions. (biomedcentral.com)

52% of our patients were shown to have deletion of 13q14.3 when tested by Southern blotting techniques for loss of markers from this region. (ucl.ac.uk)

Gene Deletion" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)

By further cloning and analyzing the promoter region of Cstps1 from Valencia, Fortune and Murcott, a 12-nucleotide deletion at approximately − 270 bp from the Cstps1 coding region was only found in Murcott. (biomedcentral.com)
The deficiency of valencene production in some mandarins is probably due to a 12-nucleotide deletion in the promoter region of the Cstps1 , which could be a crucial switch of Cstps1 transcription. (biomedcentral.com)

L. agilis BKN88 contains five putative chemoreceptor genes ( mcp1 - mcp5 ). (nature.com)

These extremely large genes do not encode large proteins, but the extreme sizes of the genes originate from vast introns. (ku.dk)
Drosophila melanogaster porcupine and its mouse homologue PORCN gene encode transmembrane bound endoplasmic reticulum proteins needed for the secretion of Wnt (Wingless and INT-1) proteins. (medscape.com)

Cells from patients with deletions in this region, in one case associated with polyposis in a family, have been used to construct human hamster hybrid cell lines that retain either the normal or deleted chromosome 5. (ox.ac.uk)
These lines have been used to identify markers from the region of the polyposis gene obtained by cloning the ends of 0.5- to 2-megabase BssHII fragments purified by pulsed-field gel electrophoresis. (ox.ac.uk)
The region of minimal deletion in these patients was shown to be a maximum of 450kb. (ucl.ac.uk)
Using further cDNA library screening techniques and RACE PCR to characterise this cDNA, a second candidate tumour suppressor gene cDNA was also isolated from the region of deletion. (ucl.ac.uk)
This region contains 30 to 40 genes, many of which have not been well characterized. (medlineplus.gov)
A small percentage of affected individuals have shorter deletions in the same region. (medlineplus.gov)

The aim of the present study was to investigate the association between tumor protein 53 (TP53) gene deletion and protein expression and clinical features in esophageal squamous cell carcinoma (ESCC), and to evaluate the predictive value of these two characteristics in the prognosis of ESCC. (spandidos-publications.com)
Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) were performed to detect the expression of p53 protein and gene deletion in ESCC tissue samples from different ethnic groups in Xinjiang, in order to analyze their association with clinicopathological characteristics and patient prognosis, as well as the sensitivity and specificity of the two methods. (spandidos-publications.com)
The gene encoding for a protein involved in chromatin organization. (altmetric.com)
This gene provides instructions for making a protein that is responsible for modifying other proteins, including Wnt proteins. (medscape.com)
In Drosophila melanogaster , the PORCN gene is involved in the processing of the wingless protein. (medscape.com)
A gene is a segment of deoxyribonucleic acid ( DNA) and contains the code for a specific protein that functions in one. (msdmanuals.com)
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)

citation needed] De novo 22q11.2 distal deletions are caused by a mistake that is thought to occur when the parents' sperm or egg cells are formed. (wikipedia.org)
Tissues in which cells select for the defective PORCN gene show anomalies. (medscape.com)
Overview of Chromosome and Gene Disorders Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)

We find that gene expression of PRKN is largely unaffected by this intronic deletion. (ku.dk)
Murcott), We have discovered that the Murcott mandarin Cstps1 gene expression is severely reduced. (biomedcentral.com)
There was a clear relationship between presence or absence of the valencene synthase gene ( Cstps1 ) expression, and presence or absence of valencene among randomly selected mandarin hybrids. (biomedcentral.com)
This study sought to determine whether these different disease subgroups were associated with unique gene expression patterns. (nebraska.edu)
We further demonstrated the role of DYNC1I1 eExons in regulating DLX5/6 expression by means of showing a reduced expression of the DLX5/6 genes through RT-PCR in a patient -derived lymphoblastoid cell line . (bvsalud.org)
Although biochemical functions of the human PORCN gene are not well characterized, Wnt signaling may be involved in the phenotypic expression of focal dermal hypoplasia where defective/deficient Wnt signaling could affect cell fate or result in failure of a progenitor cell line to expand. (medscape.com)
This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. (medscape.com)
We find that the logic rules governing gene expression depend on the function performed by the network. (lu.se)
Unlike the decision systems, the circadian clocks show strong cooperative binding and negative regulation, which achieves tight temporal control of gene expression. (lu.se)

"Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds" has been published in the journal Neurobiology of Disease . (neurodegenerationresearch.eu)
These studies represent what we believe to be the first targeted disruption of a gene in C. parapsilosis and show that C. parapsilosis-secreted lipase is involved in disease pathogenesis. (elsevierpure.com)
60 genes), there is an urgent need for novel treatments that target common features of the disease. (ucm.es)
Because the affected gene is on the X chromosome, girls are carriers of the mutant gene but develop the disease only very rarely (one in about 50 million). (news-medical.net)

Scientists led by the University of Tennessee Health Science Center (UTHSC) and the École Polytechnique Fédérale de Lausanne (EPFL) in Switzerland are exploring the elaborate interplay between genes, sex, growth, and age and how they influence variation in longevity. (news-medical.net)

We have developed an efficient gene deletion system for C. parapsilosis based on the repeated use of the dominant nourseothricin resistance marker (caSAT1) and its subsequent deletion by FLP-mediated, site-specific recombination. (elsevierpure.com)
This supports the hypothesis that the MC4R gene product is haplosufficient and the involvement of MC4R in obesity may reflect a dominant negative effect. (psu.edu)

Anatomy19

Organisms13

Diseases25

Chemicals and Drugs62

Analytical, Diagnostic and Therapeutic Techniques and Equipment37

Psychiatry and Psychology1

Phenomena and Processes112

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science4

Health Care1

Mutations25

Genetic10

Chromosomal4

Contiguous gene deletion syndrome2

22q11.2 deletion9

Locus6

Large deletions2

People with 22q11.21

Mice9

Mutation9

Genome4

Exon4

Genetics1

Phenotype1

Genomic2

Encodes4

Cytogenetic Abnormality1

Autosomal1

Upstream1

Candidate genes1

Frequency2

Receptor gene5

Apoptosis4

GSTM11

GSTT12

SMARCB12

Intron2

Enzyme gene2

Etiology1

Sequences1

Serine2

Syndrome6

Strains1

Cancer4

Researchers3

Occurs2

Viral2

Tumor supp1

Regulate1

Chromosome 221

Homozygous1

Blotting1

MeSH1

Promoter region2

Putative1

Encode2

Region6

Protein7

Cells3

Expression9

Disease4

Interplay1

Dominant2