Alleles demonstrate abnormalities. Medical search. Frequent questions

AS is a maternally inherited neurodevelopmental genetic disease associated with chromosomal abnormality at the 15q11-q13 genetic region ( 3 ). (spandidos-publications.com)
Exactly a century ago, in the book, Zur Frage der Entstehung Maligner Tumoren , Boveri presented his theory on cancer that was based on chromosomal abnormality ( 4 - 6 ). (jcancer.org)

By lineage tracing neural crest cells in mice homozygous for a knock-in allele of Ret (Ret51/51), we demonstrate that normal activity of this receptor is required in vivo for the migration of enteric nervous system progenitors throughout the gut. (crick.ac.uk)
This allelic series of homozygous conditional hypomorphic alleles (Tsc2 c-del3/c-del3 SynICre + ) and heterozygote null/conditional hypomorphic alleles (Tsc2 k/c-del3 SynICre + ) achieves a graded reduction in expression of Tsc2 in neurons in vivo. (elsevierpure.com)

These data demonstrate that different alleles of the same gene may have distinct phenotypes," the authors wrote in their paper. (the-scientist.com)
Together, our study potentially provides a mechanistic explanation on how distinct mutations of the Shank3 gene may lead to distinct molecular, synaptic, and circuit defects and relevant behavior abnormalities. (the-scientist.com)
The interaction of two naturally occurring alleles of the OUTGROWTH ASSOCIATED KINASE (OAK) gene in Sha and Lag2-2, previously shown to cause a similar phenotype in a different allelic combination in A. thaliana, was required for the hybrid phenotype. (whiterose.ac.uk)
These results demonstrate that a combination of natural alleles of OAK regulates growth and development through the integration of hormone and stress signals and highlight the importance of natural variation as a resource to discover the function of gene variants that are not present in the most studied accessions of A. thaliana. (whiterose.ac.uk)
Basal cell carcinomas, the commonest human skin cancers, consistently have abnormalities of the hedgehog signaling pathway and often have PTCH gene mutations. (nature.com)
The mouse basal cell carcinomas and trichoblastoma-like tumors resemble human basal cell carcinomas in their loss of normal hemidesmosomal components, presence of p53 mutations, frequent loss of the normal remaining Ptch allele, and activation of hedgehog target gene transcription. (nature.com)
The Ptch mutant mice provide the first mouse model, to our knowledge, of ultraviolet and ionizing radiation-induced basal cell carcinoma-like tumors, and also demonstrate that Ptch inactivation and hedgehog target gene activation are essential for basal cell carcinoma tumorigenesis. (nature.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)
Having the APOE4 allele (gene variant) does not mean you'll get Alzheimer's disease. (chicagotribune.com)
Initial analysis of the alpha globin gene complex (which maps to chromosome band 16p13.3), demonstrated that the alpha thalassemia results from failure of the patient to inherit an alpha globin allele from one of the parents. (ox.ac.uk)
CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)
Patients with a probable diagnosis are those with all of the clinical and laboratory characteristics of a particular disorder but they do not have a documented abnormality in the gene, the mRNA or the protein that is known to be abnormal in the disorder. (lu.se)

We have previously reported that maternal inheritance of a large truncation of Chr7 encompassing the entire IC2-regulated domain (DelTel7 allele) leads to embryonic lethality at mid-gestation accompanied by severe placental abnormalities. (biomedcentral.com)
Furthermore, our results demonstrate that the methylated maternal IC2 is not required for the regulation of nearby genes. (biomedcentral.com)
Genomic imprinting is the mechanism by which haploid maternal and paternal genomes carry different epigenetic marks, resulting in monoallelic transcription of a subset of genes which are expressed exclusively from either the maternal or paternal allele [ 1 ]. (biomedcentral.com)
The presence of consanguinity increases the possibility that a patient has a rare autosomal recessive immunodeficiency, but many patients with rare disorders are compound heterozygotes (have different mutations on the maternal and paternal alleles). (lu.se)

The corresponding paternal alleles of these genes are silenced in cis by an incompletely understood mechanism involving the formation of a repressive nuclear compartment mediated by the long non-coding RNA Kcnq1ot1 initiated from imprinting centre 2 (IC2). (biomedcentral.com)
Kcnq1ot1 expression can be abolished on the paternal chromosome by deleting IC2 (IC2KO allele). (biomedcentral.com)
Taken together, our results demonstrate that all the distal chromosome 7 imprinted genes implicated in placental function are silenced by IC2 and Kcnq1ot1 on the paternal allele. (biomedcentral.com)

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)
We also describe developmental abnormalities in Eomes/Nodal double heterozygotes, and demonstrate that these phenotypes reflect Eomes and Nodal interactions in different tissue sites. (ox.ac.uk)

A mutation in motor besides genetic abnormalities often being prescribed before transfection. (higienistasvitis.com)
Some risk of genetic abnormality exists in all pregnancies. (msdmanuals.com)

These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
Appearance of in buy TMP 269 the genital mesenchyme, as well as previous reviews of urogenital abnormalities in mutant mice (11,18), led us to research the function of during embryonic advancement of the exterior genitalia. (healthy-nutrition-plan.com)
Interestingly, the neurodegeneration is fully rescued in hEGFR KI/KI mice, however, they develop a severe heart hypertrophy with semilunar valve abnormalities. (silverchair.com)
The mice demonstrate a progressive neurologic phenotype including hunchback, hind limb clasp, reduced survival and brain and cortical neuron enlargement that correlates with a graded reduction in expression of Tsc2 in the two sets of mice. (elsevierpure.com)
Carbamazepine has demonstrated anticonvulsant properties in rats and mice with electrically and chemically induced seizures. (nih.gov)

Furthermore, we demonstrate that transcripts arising from the mutant alleles are subject to nonsense-mediated decay. (nih.gov)
Further, they suggest that some patients with milder manifestations of TSC may be due to persistent low-level expression of functional protein from their mutant allele. (elsevierpure.com)
2009). Previous studies of utilising RNAi induced by short hairpin RNAs (shRNAs) to reduce expression of mutant htt have shown that there is a possibility of improving abnormalities relating to HD disease in a mouse model (S.Q Harper et al, 2005). (edubirdie.com)
Allele specific targeting of mutant htt may be ideal considering that the wild type htt plays an important role in the development of neuronal nerve cells and other cellular processes (Zuccato et al. (edubirdie.com)

The variant allele was found at a frequency of 0.00311 in 152092 control chromosomes in the gnomAD Genomes database, including 3 homozygotes. (genebe.net)
For other traits, the number of copies of each variant can be used to determine how many copies of a chromosome the fetus carries, as well as how many copies of which alleles. (nature.com)

3. A major threat for breeds are the hereditary diseases which spread within the population unnoticed since not all carriers reveal phenotypical or clinical abnormalities. (vin.com)
The observations demonstrate that there are graded biochemical, cellular and clinical/behavioral effects that are proportional to the extent of reduction in Tsc2 expression in neurons. (elsevierpure.com)
In addition, they point to the potential clinical benefit of strategies to raise TSC2 protein expression from the wild-type allele by even modest amounts. (elsevierpure.com)
This pathway allows the FDA to approve drugs for serious conditions where there is an unmet medical need, based on clinical data demonstrating the drug's effect on a surrogate endpoint-in the case of Leqembi, reducing amyloid plaques in the brain-that is reasonably likely to predict a clinical benefit to patients. (fda.gov)
Leqembi demonstrated a statistically significant and clinically meaningful reduction of decline from baseline to 18 months on the primary endpoint, the Clinical Dementia Rating Scale Sum of Boxes score, compared to placebo. (fda.gov)

Relevant large fragments of mutations and methylation abnormalities were not found in the associated genes. (spandidos-publications.com)

Here, we describe novel mouse brain models of TSC generated using conditional hypomorphic and null alleles of Tsc2 combined with the neuron-specific synapsin I cre (SynIcre) allele. (elsevierpure.com)
Here, we have used a novel Eomes conditional allele to test Eomes functions in the embryo proper. (ox.ac.uk)

These findings support the concept that abnormalities in cardiomyocyte KIND2 expression or function may contribute to cardiomyopathies in humans. (ed.ac.uk)
These findings suggest that the functional abnormalities in Hirschsprung disease result from a combination of colonic aganglionosis and deficits in neuronal circuitry of more proximal gut segments. (crick.ac.uk)
The most robust findings indicate that treatment-resistant patients show glutamatergic abnormalities, a lack of dopaminergic abnormalities, and significant decreases in grey matter compared to treatment-responsive patients. (biomedcentral.com)

Lineage tracing using an inducible allele demonstrated that hybridization displays a broader design of appearance in the embryonic GT (11,19). (healthy-nutrition-plan.com)
Marker analysis as well as fate-mapping and chimera studies demonstrate for the first time that Eomes is required for specification of the definitive endoderm lineage. (ox.ac.uk)

They may also help physicians formulate a diagnosis in patients with abnormalities of the immune system . (lu.se)

These animals' mothers had grazed in copper-deficient pastures throughout their pregnancies, and their offspring consequently demonstrated symmetric cerebral demyelination and gross pathologic changes, such as porencephalic cyst formation and cavitation. (medscape.com)

For some traits, such as paternally inherited dominant conditions, this can be done by looking for DNA variants - alleles - that the mother does not carry. (nature.com)

Until now, any given sample could be tested for only one or two conditions, typically chromosomal abnormalities such as trisomy 21, the cause of Down's syndrome. (nature.com)

The severity of the phenotypes correlates with the expression levels of the hEGFR KI allele, which is not efficiently expressed in epithelial and bone cells, but is expressed at similar and even higher levels as the endogenous Egfr in brain and heart. (silverchair.com)

The data definitively demonstrate a role for Fermitins in the development of a functional cardiac syncytium in Drosophila. (ed.ac.uk)

Slit-lamp examination of the first proband demonstrated bilateral, diffusely distributed, clear epithelial microcysts, consistent with MECD. (molvis.org)
The second proband demonstrated bilateral, diffusely distributed epithelial opacities that appeared gray-white on direct illumination and translucent on retroillumination. (molvis.org)
These results demonstrate the loss of AND-34 dysregulates focal adhesion complex signaling in lens epithelial cells and suggest that AND-34-mediated signaling is required for maintenance of the structural integrity of the adult ocular lens. (molvis.org)

The results show the potential for fully rescuing trans placental abnormalities that are caused by imprinting defects. (biomedcentral.com)

Statistically significant differences between treatment groups were also demonstrated on all secondary endpoints, which included the Alzheimer's Disease Assessment Scale Cognitive Subscale 14, and the Alzheimer's Disease Cooperative Study-Activities of Daily Living Scale for Mild Cognitive Impairment. (fda.gov)

demonstrate through studies on induced pluripotent stem cell-derived cortical neurons that miR-33a is a potential therapeutic target for the treatment of SPG4-related hereditary spastic paraplegia. (portlandpress.com)

The most common side effects of Leqembi were headache, infusion-related reactions and amyloid-related imaging abnormalities (ARIA), a side effect known to occur with the class of antibodies targeting amyloid. (fda.gov)

Both models also showed behavioral abnormalities in anxiety, social interaction and learning assays, which correlated with Tsc2 protein levels as well. (elsevierpure.com)

Our data demonstrate that improvement of CFTR function by ELX/TEZ/IVA improves lung ventilation and abnormalities in lung morphology, including airway mucus plugging and wall thickening, in adolescent and adult patients with CF and one or two F508del alleles in a real-world, postapproval setting. (asthmafoundation.org.nz)

We recently demonstrated that triple-combination CFTR (cystic fibrosis transmembrane conductance regulator) modulator therapy with elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) improves CFTR function in airway and intestinal epithelia to 40-50% of normal in patients with cystic fibrosis (CF) with one or two F508del alleles. (asthmafoundation.org.nz)

Additionally, ruxolitinib is the only agent that has demonstrated a survival benefit in patients with MF. (cancernetwork.com)
To examine the effect of ELX/TEZ/IVA on LCI and lung MRI scores in patients with CF and one or two F508del alleles aged ⩾12 years. (asthmafoundation.org.nz)

A null allele of Fit1 was generated but this had no impact on the heart. (ed.ac.uk)

And conversely, plenty of people with the allele never develop Alzheimer's. (chicagotribune.com)

These results clearly demonstrated the profound failure of growth and initiated a long-term effort at defining areas of responsibility including nutrition and gastrointestinal function. (hindawi.com)

CT and MRI scans can show whether parts of the brain have structural abnormalities or aren't functioning optimally. (chicagotribune.com)

Arg84Trp)), which has a minor allele frequency of 0.0076 and was not identified in 200 control chromosomes. (molvis.org)

It may be done if a couple has a high risk of certain mendelian disorders or chromosomal abnormalities. (msdmanuals.com)

These lesions on dorsal hands demonstrate photodistribution of dermatomyositis. (medscape.com)

Anatomy24

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