Abnormalities gene deletion. Medical search. Frequent questions

Except for evidence of a rearrangement in a single leiomyosarcoma cell line, SK-UT-1, we have found no direct evidence to support a role for mutation of the gene in the development of human soft-tissue tumours. (nih.gov)
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)
Loss of function of the p16 gene has been reported to occur mainly by homozygous deletion, mutation or aberrant DNA methylation of the promoter of the region ( 5 - 8 ). (iiarjournals.org)
The data further revealed absence of 25‑bp repeat mutations at the shear mutation site of exon 1 of the small nuclear ribonucleoprotein polypeptide N gene in the subjects examined. (spandidos-publications.com)
In a study of Old Order Amish patients, a mutation in the gene that encodes for hormone-sensitive lipase (HSL) was tied to dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes, Coleen Damcott, PhD , of the University of Maryland School of Medicine in Baltimore, and colleagues reported online first in the New England Journal of Medicine . (medpagetoday.com)
They discovered a 19-base-pair frameshift deletion in exon 9 of LIPE in Amish with lipid abnormalities, a loss-of-function mutation that results in insufficiency of the HSL protein in heterozygous patients and complete absence of the protein in homozygous patients. (medpagetoday.com)
We screened for multicopy suppressors of a mutation in the nudF gene. (xenbase.org)
Detection of DPY19L2 gene mutation in 2 cases of globozoospermia]. (nih.gov)
A higher specific hazard of relapse was independently associated with postinduction MRD level ≥10(-4) and unfavorable genetic characteristics (ie, MLL gene rearrangement or focal IKZF1 gene deletion in BCP-ALL and no NOTCH1/FBXW7 mutation and/or N/K-RAS mutation and/or PTEN gene alteration in T-cell ALL). (unige.ch)
Angelman syndrome is caused by the mutation or complete deletion of a specific gene on a chromosome. (medicinenet.com)
This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
Au WY, Fung AT, Ma ES, Liang RH, Kwong YL: Low frequency of FLT3 gene internal tandem duplication and activating loop mutation in therapy-related acute myelocytic leukemia and myelodysplastic syndrome. (karger.com)
In the vast majority of cases, aniridia is caused by a mutation in the PAX6 gene located on the short arm of chromosome 11 (11p13). (visionfortomorrow.org)
If an individual has a normal PAX6 gene, another gene mutation may be mutated. (visionfortomorrow.org)
In familial aniridia, there is a mutation of the PAX6 gene. (visionfortomorrow.org)
However, in the affected child, a new change (mutation) of the PAX6 gene, whose cause is unknown, occurred before or soon after conception. (visionfortomorrow.org)
3. WAGR syndrome is a very rare form of sporadic aniridia (both parents have normal genes) where there is not only a mutation of the PAX6 gene but also involves a deletion of the neighboring genes on chromosome 11. (visionfortomorrow.org)
The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase. (bvsalud.org)

Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. (wikipedia.org)
Human chromosome 2 appears to have resulted from the fusion of two ancestral chromosomes, and many of the genes of those two original chromosomes have been translocated to other chromosomes. (wikipedia.org)
A missing piece of genetic material (deletion) on one of the chromosomes (most common cause). (medicinenet.com)
Chromosomal deletion syndromes result from loss of parts of chromosomes. (msdmanuals.com)
Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect. (msdmanuals.com)
Microdeletion and Microduplication Syndromes Microdeletion and microduplication syndromes are disorders caused by submicroscopic deletions or duplications of contiguous genes on particular parts of chromosomes. (msdmanuals.com)
In this case, both parents have normal chromosomes and genes. (visionfortomorrow.org)
Genes, chromosomes & cancer 2022 11 62 (3): 131-138. (cdc.gov)

studies suggest that larger deletions tend to result in a greater number of features than do smaller deletions. (medlineplus.gov)
2 SMS patients with smaller and larger deletions have also been reported 3 and are considered to have atypical sized deletions. (bmj.com)
Chromosomal deletion syndromes typically involve larger deletions that are usually visible on karyotyping. (msdmanuals.com)
individuals with larger deletions are usually more severely affected. (msdmanuals.com)

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)

In a very small number of cases, people with TRPS II have inherited the chromosomal deletion from a parent with the condition . (medlineplus.gov)
Specific chromosomal deletion syndromes are less likely to be suspected prenatally but may be incidentally discovered at that time if karyotyping is done for other reasons. (msdmanuals.com)

These findings illustrate the phenotypic overlap between the two conditions and suggest that screening for MECP2 mutations should be considered in AS patients without a demonstrable molecular or cytogenetic abnormality of 15q11-13. (bmj.com)

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder of unknown etiology characterized by disorders of surfactant homeostasis (clearance and production), which are caused in part by mutations in genes necessary for normal surfactant production. (medscape.com)
Chromosome deletions or mutations in genes are associated with adolescent mental health. (alexproject.org)

Unlike both and [19 20 Our studies however additionally analyzed the loss of Snai3 in the context of a Snai2 deficient animal a germ line double knockout (DKO) which resulted in clear developmental abnormalities LY2603618 (IC-83) [20]. (bioinf.org)
Genetic factors can also increase a child's risk of developing developmental abnormalities. (alexproject.org)

BACKGROUND Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with a hemizygous deletion of chromosome 17, band p11.2. (bmj.com)

In this study we have screened a series of 29 primary leiomyosarcomas for abnormalities of both the p53 gene and the MDM2 gene, which encodes a p53-associated protein. (nih.gov)
The tumor suppressor gene p16/cyclin-dependent kinase inhibitor-2A (CDKN2A) is located within the chromosomal region 9p21 and encodes a cell-cycle protein that is an inhibitor of cyclin-dependent kinases (CDK)-4 and -6. (iiarjournals.org)
The human UBE3A gene encodes an E3 ubiquitin ligase, which exhibits three known protein subtypes ( 1 , 8 ). (spandidos-publications.com)
This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. (cancerindex.org)
The INK4/ARF locus encodes three tumor suppressor genes (p15 Ink4b , Arf and p16 Ink4a ) and is frequently inactivated in a large number of human cancers. (plos.org)
It is linked to the TBCE gene on chromosome 1q42-43 which encodes for the tubulin-specific chaperone E protein [2-4]. (who.int)

Molecular cytogenetic characterization of the 15 patients revealed nine with deletions, ranging in size from 0.8 to 15.3 Mb, with the number of genes lost ranging from 15 to 70. (nih.gov)
Our study suggests that the use of molecular cytogenetic techniques is a highly effective way of systematically delineating chromosomal breakpoints, and that the presence of deletions of varying size is an important cause of phenotypic abnormalities in patients with "balanced" de novo rearrangements. (nih.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)
There are few studies focusing on the molecular analysis of p16 gene in ovarian cancer ( 13 - 16 ). (iiarjournals.org)
The majority of patients have a common deletion characterised at the molecular level. (bmj.com)
A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male. (bmj.com)
6 There remain a group of around 15% of AS patients, both sporadic and familial, in whom no cytogenetic or molecular abnormality involving chromosome 15q11-13 can be identified. (bmj.com)
Additional clinical and molecular data are provided, studying other members of the same pedigree, as already described, with a five-base deletion in exon 9 of the SPG4 gene (1215-1219delTATAA) whose members show MRI anomalies that fall within the Dandy-Walker continuum. (bmj.com)
A molecular abnormality referring to the loss of at least one copy of the MTAP gene. (nih.gov)
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. (medlineplus.gov)
Asimakopoulos FA, White NJ, Nacheva E, Green AR: Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. (karger.com)

The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders. (atlasgeneticsoncology.org)
PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)

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)

Chromosome 7q11.23 deletions and duplications cause different symptoms. (chromodisorder.org)
Both deletions and duplications of this segment are known to cause different disorders. (chromodisorder.org)
Aortic abnormalities are caused by deletions/duplications of the ELN gene. (chromodisorder.org)

TRPS II is often described as a contiguous gene deletion syndrome because it results from the loss of several neighboring genes. (medlineplus.gov)
SMS is considered a contiguous gene deletion syndrome 1 and 95% of patients harbour a common deletion of approximately 5 Mb. (bmj.com)

The purpose of this study was to test the hypothesis that deletions of varying sizes in de novo apparently balanced chromosome rearrangements are a significant cause of phenotypic abnormalities. (nih.gov)
The identification of genotypic and phenotypic abnormalities that occur frequently during tobacco-induced carcinogenesis in the aerodigestive or urothelial epithelia, for instance, provides markers for risk of developing cancer as well as potential targets for intervention in the process of carcinogenesis. (nih.gov)
Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. (bmj.com)

Other mice with ubiquitous conditional deletion of the gene do not display neurological abnormalities. (utsouthwestern.edu)

And an arsenal of tools is available to manipulate those genes, making them an ideal system in which to probe the genetics of autism. (spectrumnews.org)
It's easy to discover genes as the tools of genetics get better and better, but much harder to discover what they do," says Sur. (spectrumnews.org)

As many as 30% of patients are asymptomatic, even with diffuse chest radiograph (CXR) abnormalities. (medscape.com)
Results for pulmonary auscultation and respiratory and cardiac rates were unremarkable, and a chest radiograph showed no abnormalities. (cdc.gov)

The aim of the present study was to determine the significance of this tumor suppressor gene for ovarian tumorigenesis, investigating both numerical aberrations of chromosome 9 and p16 gene alterations in 28 cases of ovarian tumors, by the fluorescence in situ hybridization (FISH) technique. (iiarjournals.org)
Discovery of AG-270, a First-in-Class Oral MAT2A Inhibitor for the Treatment of Tumors with Homozygous MTAP Deletion. (nih.gov)
Biochemical signs and severity of symptoms of primary hyperparathyroidism (pHPT) differ among patients, and little is known of any coupling of clinical characteristics of nonfamilial pHPT to genetic abnormalities in the parathyroid tumors. (lu.se)
Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. (lu.se)

Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis. (cdc.gov)

The major strengths of the study are the dramatic morphogenic phenotypes, and the resultant altered gene networks. (elifesciences.org)
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)

Similarly, loss of heterozygosity at chromosomal loci such as 3p and 9p are frequent early changes occurring in lung and upper aerodigestive carcinogenesis, suggesting that the tumor suppressor genes found at these loci (i.e. (nih.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)
The results were validated both by gene expression analysis and immunohistochemistry study in an independent 55 clinical samples from Fudan University Shanghai Cancer Center. (cancerindex.org)
Postnatal diagnosis is suspected by clinical appearance and is confirmed by karyotyping, if the deletion is relatively large, or by other cytogenetic techniques such as fluorescent in situ hybridization or microarray analysis. (msdmanuals.com)
Clinical and biochemical characteristics of HPT were apparently unrelated to the presence or absence of LOH and the MEN1 gene mutations. (lu.se)

Whithout mutations we would know very little about inheritance and the existence of genes. (intechopen.com)

In five of the other six cases, a known or putative gene(s) was potentially disrupted as a result of the chromosomal rearrangement. (nih.gov)
The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)

The UBE3A gene is located on the 15q11-q13 locus of chromosome 15. (spandidos-publications.com)
An error in one of the genes on chromosome 15 causes Angelman syndrome. (medicinenet.com)
5 Approximately 70% of patients have a de novo maternal deletion of chromosome 15q11-13, while 3% have uniparental paternal disomy for chromosome 15. (bmj.com)

Methylthioadenosine phosphorylase inactivation depends on gene deletion in laryngeal squamous cell carcinoma. (nih.gov)

Typical cases of Williams syndrome are caused by a ~1.55 Mb deletion in 7q11.23. (chromodisorder.org)
Comparison of these cases with typical cases allows the link of present (or absent) genes to some manifestations of the syndrome. (chromodisorder.org)
Such analysis showed that the BAZ1B gene may be critical for facial features of Williams syndrome patients. (chromodisorder.org)
Restoration of GTF2I levels via drug or gene therapy may improve this condition in Williams syndrome patients (at least it was shown using mice models). (chromodisorder.org)
Among the various genetic metabolic disorders, Angelman syndrome (AS) has attracted considerable attention due to the abnormal expression of the ubiquitin-protein ligase E3A (UBE3A) gene ( 1 ). (spandidos-publications.com)
Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. (cancerindex.org)
An abnormality in the UBE3A gene causes Angelman syndrome. (medicinenet.com)
2q37 deletion syndrome is a condition that can affect many parts of the body. (medlineplus.gov)
Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. (medlineplus.gov)
Unusual physical features are also common in people with 2q37 deletion syndrome. (medlineplus.gov)
Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. (medlineplus.gov)
A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor . (medlineplus.gov)
2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. (medlineplus.gov)
Researchers are working to identify all of the genes whose loss contributes to the features of 2q37 deletion syndrome. (medlineplus.gov)
While the deleted segment in 2q37 deletion syndrome varies in size, it always contains the HDAC4 gene. (medlineplus.gov)
Additionally, a few people with mutations in only the HDAC4 gene have many of the features of 2q37 deletion syndrome. (medlineplus.gov)
Most cases of 2q37 deletion syndrome are not inherited. (medlineplus.gov)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
de Souza Fernandez T, Menezes de Souza J, Macedo Silva ML, Tabak D, Abdelhay E: Correlation of N-ras point mutations with specific chromosomal abnormalities in primary myelodysplastic syndrome. (karger.com)
Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome. (lu.se)

In five cases with p16 gene deletion, homozygous deletion was detected. (iiarjournals.org)
They also found that patients with the homozygous genotype developed diabetes early in adulthood and had downregulation of PPAR-gamma-dependent genes that are responsible for adipogenesis and the maintenance of adipocyte function, which "alter[s] the regulation of pathways influencing adipogenesis, insulin sensitivity, and lipid metabolism," they wrote. (medpagetoday.com)
Homozygous deletion of this distal Sox2 control region (SCR) caused significant reduction in Sox2 mRNA and protein levels, loss of ES cell colony morphology, genome-wide changes in gene expression, and impaired neuroectodermal formation upon spontaneous differentiation to embryoid bodies," wrote the investigators. (genengnews.com)

In normal brain tissues, the maternal UBE3A gene is actively expressed, whereas the paternal UBE3A gene is not. (spandidos-publications.com)
The loss of the expression of the maternal allele of the UBE3A gene is typically associated with the four following mechanisms: Deletion at the 15q11.2-q13 locus, UBE3A functional loss variation, presence of paternal parthenogenetic double chromosome or genomic imprinting defect ( 4 ). (spandidos-publications.com)
The various characteristics of AS are primarily caused by maternal allele dysfunction of the UBE3A gene and paternal imprinting ( 5 ). (spandidos-publications.com)
UBE3A is the only gene in the 15q11-q13 region that indicates biased expression from the maternal allele ( 6 ). (spandidos-publications.com)
In normal brain tissues, the maternally inherited UBE3A allele is actively expressed ( 7 ), while the paternally inherited UBE3A gene is not. (spandidos-publications.com)
The UBE3A gene plays a regulatory role on the function of specific monoamine transmitters, which are associated with the dynamics of synaptic plasticity. (spandidos-publications.com)
In some cases, abnormalities in the UBE3A gene are inherited , whereas, in others, damage to the gene appears to occur spontaneously during fetal development . (medicinenet.com)
Finally, around 5% of patients have loss of function mutations in the UBE3A gene, a gene encoding E6-AP, a ubiquitin protein ligase. (bmj.com)

This is an important study demonstrating distinct roles for the nuclear receptor genes COUP-TFI and COUP-TFII in hippocampal development. (elifesciences.org)

Deletion of the end of the short arm of chromosome 5 (5p minus, usually paternal) is characterized by a high-pitched, mewing cry, closely resembling the cry of a kitten, which is typically heard in the immediate neonatal period, lasts several weeks, and then disappears. (msdmanuals.com)

Studies of genetically altered mice ("knock-out mice") with targeted gene deletions for GM-CSF have yielded animals with PAP-like disease. (medscape.com)
Deletion of the core circadian clock genes Bmal1 and Per1 in mice triggers oxidative damage and synaptic degeneration. (news-medical.net)
APP23 TG mice without diurnal oscillation in genes exhibited hyperexcitability and reduced sleep. (news-medical.net)
We generated mice that possess a heterozygous deletion of the PTG gene. (jci.org)
University of Toronto (U of T) researchers investigating stem cells in mice report for the first time an instance of a relationship between the Sox2 gene , which is critical for early development, and a region elsewhere on the genome that effectively regulates its activity. (genengnews.com)
We studied how the Sox2 gene is turned on in mice, and found the region of the genome that is needed to turn the gene on in embryonic stem cells," said Jennifer Mitchell, Ph.D., of U of T's department of cell and systems biology. (genengnews.com)

The parts of the human genome linked to complex diseases such as heart disease, cancer, and neurological disorders can often be far away from the genes they regulate, so it can be difficult to figure out which gene is being affected and ultimately causing the disease. (genengnews.com)
Hematologic disorders associated with deletions of chromosome 20q: a clinicopathologic study of 107 patients. (atlasgeneticsoncology.org)
Overview of Chromosomal Abnormalities Chromosomal abnormalities cause various disorders. (msdmanuals.com)
Human mental health disorders are extremely poorly understood, so we started wondering whether fish could be a tool to address some of the functions of the genes that might be involved," Sive says. (spectrumnews.org)

Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. (atlasgeneticsoncology.org)
However in recent years with the development of epigenesis, genomic imprinting and the horizontal transferences of the genes, Lamarck's ideas have resurfaced. (intechopen.com)
Researchers have yet to figure out which genes within these genomic chunks are responsible for an increased risk for autism, however. (spectrumnews.org)

The indicated mutants (all are conditional, temperature sensitive) were transformed with either the empty vector pAid or pAid clones bearing nudE and nudF6 genes (plasmids recovered in the multicopy suppressor screen) and grown at 32°C. Transformants were gridded on YAG plates with or without KCl and incubated at 43°C or 32°C for 2 d. (xenbase.org)
Conditional deletion of Lrp6 gene in mouse forebrain neurons leads to age-dependent deficits in synaptic integrity and memory. (elsevierpure.com)

The deletions occur near the end of the chromosome at a location designated 2q37. (medlineplus.gov)

Researchers have determined that loss of a particular gene on chromosome 2, called HDAC4 , is likely to account for many of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). (medlineplus.gov)

One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)

Abnormalities in the circadian rhythm of aMT6s were observed in all but one SMS patient. (bmj.com)

The multiplex ligation‑dependent probe amplification project of the Angel/chubby and copy number variation (CNV) sequencing were assessed concomitantly to identify the pathogenic genes responsible for the development of AS. (spandidos-publications.com)

The loss of other genes from this region of chromosome 8 likely contributes to the additional features of this condition. (medlineplus.gov)

Materials and Methods: To investigate both the presence of numerical abnormalities of chromosome 9 and p16 gene alterations in ovarian cancer, we studied 28 cases by the fluorescence in situ hybridization (FISH) technique using a DNA p16 probe and an a-satellite probe specific for chromosome 9. (iiarjournals.org)
Conclusion: Numerical aberrations of chromosome 9 and p16 gene deletion are common findings in ovarian cancer. (iiarjournals.org)

Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis. (bmj.com)

Detection of mutations in this gene has confirmed the fundamental role of aromatase for the fetal-placental unit and for sexual differentiation of the female fetus. (health.am)

Deletion of at the epiblast stage also resulted in embryonic lethality in this instance due to global defects in vascularization [13]. (bioinf.org)
Muscular ventricular septal defects (VSDs) have a multifactorial etiology and are predominantly the result of spontaneous abnormalities in development. (medscape.com)
Once Sive and her team find specific neural defects linked to candidate genes in zebrafish, they can look for ways to remedy those defects. (spectrumnews.org)

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)
Characteristic features include neurobehavioural abnormalities such as aggressive and self-injurious behaviour and significant sleep disturbances. (bmj.com)

The protein encoded by this gene belongs to the dpy-19 family. (nih.gov)
The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. (utsouthwestern.edu)

It is possible that the formation of the loop needed to make contact with the Sox2 gene is an important final step in the process by which researchers practicing regenerative medicine can generate pluripotent cells from adult cells. (genengnews.com)
These results indicate that genetic abnormalities are important predictors of outcome in adult ALL not fully recapitulated by early response to therapy. (unige.ch)

SSCP (single-strand conformation polymorphism) analysis and direct sequencing of polymerase chain reaction (PCR)-amplified DNA were used to establish that 6/29 tumours possessed point mutations of the p53 gene. (nih.gov)
Using a monoclonal antibody that recognises the p53 protein in immunohistochemical staining experiments, we observed overexpression of the p53 protein in five of the six tumours containing point mutations in the p53 gene. (nih.gov)

Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
7 The Rett gene was recently identified as the methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
8 The MeCP2 protein, initially characterized by its ability to bind single methylated CG nucleotides, 9 plays a significant role in the transcriptional silencing of genes. (neurology.org)
Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)

Loss of the TRPS1 gene is thought to cause the other bone and facial abnormalities. (medlineplus.gov)

Physical mapping studies indicate that all patients with the common deletion are haploinsufficient for subunit 3 of the COP9 signalosome ( COPS3 ), which is conserved from plants to humans, and in the plant Arabidopis thaliana regulates gene transcription in response to light. (bmj.com)

The authors also enabled normalization of hippocampal gene expression in specific pathways associated with AD and neuroinflammation, which enabled memory improvements. (news-medical.net)

Continuing to focus on the murine system deletion of did not result in organismal catastrophe. (bioinf.org)

Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. (cancerindex.org)

Wild-type TP53 can inhibit the cell cycle and activate apoptosis-related genes that induce apoptosis and regulate cell proliferation ( 10 ). (spandidos-publications.com)

This mouse model showed significant changes in the expression pattern of many genes linked to AD pathology and neuroinflammation in the hippocampus. (news-medical.net)

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)
As patients with MDS have widely variable prognosis, we need to stratify them according to chromosomal abnormalities, genetic alterations, and epigenetic deregulations associated with progression to AML in order to treat these patients appropriately. (karger.com)

The expression levels of these genes are tissue-specific and depend on the origin of the parent. (spandidos-publications.com)
Search the gene expression profiles from curated DataSets in the Gene Expression Omnibus (GEO) repository. (cancerindex.org)
The dorsal hippocampus, which connects and shares similar gene expression with the neocortex ( Fanselow and Dong, 2010 ), serves the 'cold' cognitive function associated with declarative memory and spatial navigation. (elifesciences.org)
This loss is accompanied with an increased expression of the histone demethylase Jmjd3 and with the recruitment of the MLL1 protein, and correlates with the expression of the Ink4a/Arf genes. (plos.org)
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)
How Reliable Are Gene Expression-Based and Immunohistochemical Biomarkers Assessed on a Core-Needle Biopsy? (lu.se)
Microarray profiling of hypothalamic gene expression changes in Huntington's disease mouse models. (lu.se)

Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)

B) Complementation of the nudE deletion and the nudF7 mutant by extra copies of nudE, the nudE NH2-terminal domain, and nudE chimeras carrying coiled-coil regions from human and frog proteins, respectively. (xenbase.org)

From the standpoint of evolution, genes GFT2I and GTF2IRD2 have been proposed as key elements in human (and dog) domestication, and their disturbance may cause specific behavioral characteristics. (chromodisorder.org)
In addition to the common traits of aniridia, children with WAGR have a high risk for developing Wilms' timor and other medical complications such as genital abnormalities and learning and behavioral difficulties. (visionfortomorrow.org)

The signs and symptoms of TRPS II are related to the loss of multiple genes on chromosome 8. (medlineplus.gov)
Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT. (lu.se)

Anatomy23

Organisms11

Diseases35

Chemicals and Drugs51

Analytical, Diagnostic and Therapeutic Techniques and Equipment43

Psychiatry and Psychology2

Phenomena and Processes112

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science4

Named Groups1

Health Care5

Mutation20

Chromosomes8

Larger deletions4

Frameshift deletion1

Chromosomal deletion2

Cytogenetic abnormality1

Mutations in genes2

Developmental2

Congenital1

Encodes6

Molecular11

Long arm of chromosome2

Exon1

Duplications3

Contiguous2

Phenotypic3

Neurological abnormalities1

Genetics2

Chest radiograph2

Tumors4

Somatic1

Phenotypes2

Tumor suppr1

Clinical4

Inheritance1

Rearrangement2

Chromosome 153

Squamous cell carc1

Syndrome21

Homozygous3

UBE3A8

Nuclear receptor genes1

Short arm of chromosome1

Mice6

Disorders4

Genomic3

Conditional2

Occur1

Skeletal1

Atypical1

Circadian1

Pathogenic1

Contributes1

Ovarian cancer2

Hereditary1

Detection1

Defects3

Characteristic2

Protein encoded by this gene2

Adult2

Point mutations2

MECP24

Facial1

Humans1

Hippocampal1

Murine1

Transcriptional1

Cell proliferation1

Pathology1

Prognosis2

Expression7

Allele1

Proteins1

Behavioral2

Symptoms2