Phenotypes gene dosage. Medical search. Frequent questions

The PMP22 gene is located on chromosome 17p11.2 and mutations as well as alterations in the gene dosage are causative for a group of hereditary neuropathies affecting approximately 1 in 2500 humans 2 , 3 . (biorxiv.org)
At least 14 mutations in the ENAM gene have been identified in people with a disorder of tooth development called amelogenesis imperfecta. (medlineplus.gov)
Mutations in this gene cause autosomal dominant and autosomal recessive forms of this condition. (medlineplus.gov)
Some of these mutations reduce the amount of enamelin produced from one copy of the gene. (medlineplus.gov)
Phenotype of ENAM mutations is dosage-dependent. (medlineplus.gov)
Pavlic A, Petelin M, Battelino T. Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. (medlineplus.gov)
Background Dominant mutations in peripherin ( PRPH2 ) are associated with a spectrum of retinal dystrophy phenotypes, many of which are adult onset and involve the macula. (bmj.com)
These results indicate that Gli2 and Gli3 possess specific and overlapping functions in Shh signalling during foregut development, and suggest that mutations in GLI genes may be involved in human foregut malformations. (nih.gov)
Germline activating mutations to the PTPN11 gene cause overactivation of the Ras-Mitogen-Activated Protein Kinase pathway. (stanford.edu)
This review first considers the factors that may influence phenotype in JAK2 -mutated MPNs, especially polycythemia vera (PV) and essential thrombocythemia (ET), and then discusses the mutations implicated in JAK2 -negative MPNs such as in MPL and epigenetic regulators. (oncohemakey.com)
an in-depth analysis of the first 2000 cases revealed that approximately 30% of patients with suspected genetic disease harbored presumptive causative mutations in disease genes that were discovered in the previous 3 years. (cdc.gov)
X-linked agammaglobulinemia (XLA), or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). (medscape.com)
[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
Mutations of this gene introduce a premature stop codon and result in truncated protein versions. (medscape.com)

Mammalian parental imprinting is a form of epigenetic regulation that causes genes to be expressed from only one chromosome homolog according to parent-of-origin 1 , 2 . (nature.com)
Several sexually dimorphic phenotypes correlate with sex-chromosome dosage rather than with phenotypic sex. (duke.edu)
New research suggests that sex chromosome dimorphism helps to regulate gene silencing. (duke.edu)
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (harvard.edu)
In this post I'll show how I use this pedigree as an introduction to chromosome biology and gene dosage. (himelblog.com)
The translocated region of chromosome 1 includes a region called DFNA49 that contains several genes associated with hearing and ear development. (himelblog.com)
In one case, a chromosome-specific synthetic growth defect could be explained fully by the specific duplication of a single gene on the aneuploid chromosome, highlighting the ability of individual dosage imbalances to cause chromosome-specific phenotypes in aneuploid cells. (yeastgenome.org)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. (com.pr)
Chromosome aberrations can affect one or more genes in a complex manner, such as by changing the regulation of gene expression, by disrupting exons, and by creating fusion genes. (biomedcentral.com)
Finally, we summarize the possible molecular consequences of chromosome aberrations for gene expression and function, and we discuss approaches for identification and unraveling the molecular determinants of congenital disease phenotypes. (biomedcentral.com)
The presence of extra chromosome 21 (or critical regions of it) associated with this syndrome, and the resultant change in gene dosage, is responsible for many structural and functional abnormalities in the nervous system of these children, which can be evidenced by psychomotor developmental delay commonly observed. (bvsalud.org)
However, molecular genetic studies have shown that some genes on the inactivated X chromosome (or chromosomes) remain functional, and these few are essential to normal female development. (msdmanuals.com)
XIST is the gene responsible for inactivating the genes of the X chromosome, producing RNA that triggers inactivation. (msdmanuals.com)
The BTK gene defect has been mapped to the long arm of the X chromosome at band Xq21.3 to Xq22, spanning 37.5kb with 19 exons forming 659 amino acids to complete the BTK cytosolic tyrosine kinase. (medscape.com)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)

Our study highlights the importance of genomic variants affecting homoeolog expression dosage in shaping agronomic phenotypes and points at their potential utility for improving yield in polyploid crops. (tamu.edu)
ClinGen Dosage Sensitivity Map -Haploinsufficiency (ClinGen Haploinsufficiency) and -Triplosensitivity (ClinGen Triplosensitivity) - Shows evidence supporting or refuting haploinsufficiency (loss) and triplosensitivity (gain) as mechanisms for disease at gene-level and larger genomic regions. (genap.ca)
Evidence that haploinsufficiency or triplosensitivity of a gene is associated with a specific phenotype will aid in the interpretive assessment of CNVs including that gene or genomic region. (genap.ca)
Aneuploidy, an unbalanced karyotype in which one or more chromosomes are present in excess or reduced copy number, causes an array of known phenotypes including proteotoxicity, genomic instability, and slowed proliferation. (yeastgenome.org)
We are testing how and why genomic mixture in hybrids and allopolyploids induces epigenetic changes in circadian clock gene expression and whether the circadian-mediated growth vigor is a general mechanism for other hybrid plants and crops such as maize and sorghum. (utexas.edu)
The precise delineation of breakpoints by whole-genome sequencing enables the construction of local genomic architecture and facilitates the prediction of the molecular determinants of the patient's phenotype. (biomedcentral.com)

After implantation, a secondary DMR is established at the promoter of the Gtl2 gene, sustaining its repression from the paternal allele. (nature.com)
Gene dose of the epsilon 4 allele. (unige.ch)
and a null allele (allele generated by a loss of function mutation outputting the complete loss of the WT phenotype)? (stackexchange.com)
The concept of a 'null' allele however came later, and explicitly describes how an allele works - by destroying gene activity. (stackexchange.com)
Basically, a recessive allele leads to formation of a product that has a low activity or no activity, which is complemented in the presence of the dominant allele (there can be effects related to dosage, in some cases). (stackexchange.com)
A null allele however results in zero activity of the gene. (stackexchange.com)
In cases where there is no dosage effect, a null allele is always recessive but the converse is not true. (stackexchange.com)
The phenotypes of mice carrying a single allele of either wild-type Pten or Pten Y138L in the prostate were similar, with common prostatic intraepithelial neoplasia (PIN) and similar gene expression profiles. (bvsalud.org)
CONCLUSIONS: These gene dosage effects demonstrate that one functional IGFALS allele is insufficient to maintain normal ALS levels, endocrine IGF-I action, full growth potential, muscle size, and periosteal expansion. (ox.ac.uk)
This mutant shows a severe slow-growth phenotype, which could be fully suppressed by increased dosage of the ubi1∆ub-HA allele, or partially by the replacement of ubiquitin by the ubiquitin-like Smt3 protein. (123dok.net)
The compound inheritance gene dosage model shows that haploinsufficiency does not cause the phenotype whereas a homozygous null allele is lethal. (cdc.gov)

Genetics: from genes to genomes (Second ed. (wikipedia.org)
As a result of the rapid advances in genetics technology and the Human Genome Project, most of the estimated 100,000 genes in humans will be identified by the year 2005 (1). (cdc.gov)

JAK2 exon 12-mutated PV is characterized by a specific phenotype of isolated and marked erythrocytosis, which may reflect increased signaling strength through JAK2. (oncohemakey.com)

Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities. (stanford.edu)
We provide evidence for the effects of Ras-MAPK pathogenic variants on striatal and cortical anatomy as well as links between PTPN11 gene expression and cortical SA increases, and striatal volume and inhibition skills. (stanford.edu)
METHODS: In an effort to understand the pathogenic mechanism of SCA10, the authors conducted a series of experiments to address the effect of repeat expansion on the transcription and RNA processing of the ATXN10 gene. (utmb.edu)
Heterozygous mutants were overtly normal and did not develop SCA10 phenotype CONCLUSION: A simple gain of function or loss of function of ATXN10 is unlikely to be the major pathogenic mechanism contributing to the spinocerebellar ataxia type 10 phenotype. (utmb.edu)
The identification of novel genes and of rare, highly penetrant pathogenic variants is helping to enhance our understanding of genotype-phenotype correlations. (mdpi.com)
Recurrent pathogenic gene dosage disorders have been associated with increases in risk for several neuropsychiatric phenotypes, including autism spectrum disorder (ASD), bipolar disorder, and schizophrenia [ 2 ]. (biomedcentral.com)

Haploinsufficiency of this gene is hypothesised to be potentially involved in the sleep disturbances seen in these patients. (bmj.com)
Items are shaded according to dosage sensitivity type, red for haploinsufficiency score 3, blue for triplosensitivity score 3, and grey for other evidence scores or not yet evaluated). (genap.ca)

This imbalance in gene dosage alters the amount of a particular protein relative to all other proteins, and this alternation in the relative amounts of protein can have a variety of phenotypic effects. (wikipedia.org)
For some genes the phenotypic consequences of a decrease in gene dosage are noticeable but not catastrophic. (wikipedia.org)
They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity of chromosomal aberrations in these patients is typically assessed based on criteria such as phenotypic similarity to other patients with the same or overlapping aberration, absence in healthy individuals, de novo occurrence, and protein coding gene content. (biomedcentral.com)
Furthermore, there is significant purifying selection against large and gene-disruptive copy number variations (CNVs), indicating their considerable phenotypic impact. (biomedcentral.com)
These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. (biomedcentral.com)

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. (duke.edu)
Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. (plos.org)
We address the problem of how to distinguish which of the many thousands of DNA sequence variants carried by an individual with a rare disease is responsible for the disease phenotypes. (plos.org)
We examined: (1) How Ras-MAPK activating variants of PTPN11/SOS1 protein-coding genes affect brain anatomy. (stanford.edu)
Though trans-acting effects play major role in expression regulation, the expression dosage of homoeologs is largely influenced by cis-acting variants, which appear to be subjected to selection. (tamu.edu)
ClinGen is a National Institute of Health (NIH) -funded initiative dedicated to identifying clinically relevant genes and variants for use in precision medicine and research. (genap.ca)
A rating system is used to classify the evidence supporting or refuting dosage sensitivity for individual genes and regions, which takes in consideration the following criteria: number of causative variants reported, patterns of inheritance, consistency of phenotype, evidence from large-scale case-control studies, mutational mechanisms, data from public genome variation databases, and expert consensus opinion. (genap.ca)
Structural Variants (SVs) caused by the reorganization of the DNA may connect two distal fragments together leading to gene fusions and chimeric proteins when two distant genes are joined into one. (mdanderson.org)
While most dominant NDD genes are highly intolerant to variation, some exceptions are connected to the presence of variants in transcripts that are not brain expressed and/or genes that demonstrate acquired somatic mosaicism in blood. (mdpi.com)
Common variants in UMOD have also been demonstrated in large genome-wide association studies (GWAS) to confer independent risk for both hypertension and kidney disease illustrating the shared risk for both phenotypes within this locus (see the GWAS in Nephrology team description for more). (medscape.com)
UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)

Here, we use diverse wheat accessions to map expression quantitative trait loci (eQTL) and evaluate their effects on the population-scale variation in homoeolog expression dosage. (tamu.edu)

Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy. (wikipedia.org)
At least three papers last summer dealt with the advantage of new technologies used to discover the extent to which these polymorphic rearrangements are duplications of genes found elsewhere in the genome. (the-scientist.com)
The most potent endogenous key is CCL3L1, a chemokine whose gene is found anywhere from zero to at least 14 times in a normal diploid genome. (the-scientist.com)
The Clinical Genome Resource (ClinGen) tracks display data generated from several key curation activities related to gene-disease validity , dosage sensitivity , and variant pathogenicity . (genap.ca)
Similar sequences in the human genome can cross over during mitosis or meiosis, resulting in a shortened portion of the gene sequence. (wearefibro.org)
Moreover, genome instability was attributed to impaired autophagy and several autophagy genes with tumor suppressor functions (e.g. (hindawi.com)
Concern is mounting that other gene therapies for rare diseases will meet a similar fate, as might upcoming treatments that rely on the related technique of genome editing, which makes targeted DNA changes. (cdc.gov)
With the advent of next-generation genome sequencing technologies, gene panel sequencing as a first-tier newborn screening test is a promising strategy, potentially enabling comprehensive and accurate diagnosis of a broad spectrum of genetic conditions at birth. (cdc.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)

While imprinting perturbations are widely associated with developmental abnormalities, the intricate regional interplay between imprinted genes makes interpreting the contribution of gene dosage effects to phenotypes a challenging task. (nature.com)
Craniofacial defects are among the most common phenotypes caused by ciliopathies, yet the developmental and molecular etiology of these defects is poorly understood. (elifesciences.org)
These findings show that both allelic heterogeneity and different combinations of alleles at a locus can be important for the manifestations of disease traits, that the combination of rare variant coding alleles with common variant non-coding alleles can be important for trait manifestation or for the penetrance of disease, and that gene dosage and expression perturbations can result in developmental birth defects. (cdc.gov)
Cognitive phenotypes such as developmental delay/intellectual disability (DD/ID), autism, and schizophrenia are complex traits. (cdc.gov)
Igf2 ligand dependency of Pten(+/-) developmental and tumour phenotypes in the mouse. (ox.ac.uk)

Surprisingly, an isolated paternally derived deletion of a CpG island (CGI) located at the 5′ portion of the IG-DMR was shown to result in the opposing paternal-to-maternal phenotype 15 . (nature.com)
SMS is considered a contiguous gene deletion syndrome 1 and 95% of patients harbour a common deletion of approximately 5 Mb. (bmj.com)
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
We performed high-throughput screens for genes the deletion of which has a synthetic fitness cost in aneuploidy Saccharomyces cerevisiae cells containing single extra chromosomes. (yeastgenome.org)
Deletion of other genes, particularly those involved in protein transport, however, confers synthetic sickness on a broad array of aneuploid strains. (yeastgenome.org)
A deletion changes the DNA sequence by removing at least one nucleotide in a gene. (wearefibro.org)

Some SVs, such as deletions and duplications, change the dosage of DNA and are considered copy number variations (CNVs). (mdanderson.org)
As with duplications, deletions can affect gene dosage and thus the resulting phenotype. (wearefibro.org)

This antibody blocks RAGE signaling in vitro and in vivo, recapitulating the phenotype of Ager AHA/AHA mice. (elifesciences.org)
Female mice lacking this gene do not form a stable zona matrix and are sterile. (nih.gov)
In addition, we generated Sca10 (mouse ataxin 10 homolog)-null mice and addressed the role of Sca10 gene dosage on the cerebellum. (utmb.edu)
We evaluated this by generation of Pten(+/-) mice with differing allelic dosage of Igf2, an imprinted gene encoding the potent embryonic and tumour growth factor Igf2. (ox.ac.uk)

An important question however, given the high prevalence of JAK2V617F in MPNs, is how it can be associated with several diseases with distinct clinical phenotypes (PV, ET, and PMF)? (oncohemakey.com)
Survival analysis was performed using each gene in the clinical transcriptomic data, and gene set enrichment analysis was used to determine pathways related to model performance in predicting survival and recurrence. (bvsalud.org)
The study of the genotype-phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes. (mdpi.com)
Major breakthroughs in medical genomics have been enabled by the implementation of clinical exome sequencing (ES) for molecular diagnosis, by genomics approaches for understanding the genetic basis of complex traits and diseases, and by progress in understanding genotype–phenotype relationships. (cdc.gov)
Samples were batched during sequencing and analyzed selectively based on the clinical phenotype. (cdc.gov)
From the abstract: 'Rare and ultra-rare diseases have been central to the field of gene therapy since its earliest stage, and we are now witnessing more and more effective treatments entering the clinical realm for patients in need. (cdc.gov)
The The gene responsible for FMF is desigi clinical profile, course, genotype, treatment nated MEFV and was recently cloned [ 8 ]. (who.int)

ClinGen's Overlapping CNVs track (Figure 4) provides a variety of unique fields with specific sample/study details including study conditions, associated phenotypes, and additional database IDs. (goldenhelix.com)
In spite of the clear association between large ( de novo ) CNVs and other SVs (collectively known as chromosomal aberrations) with MCA/MR phenotypes [ 9 ], precise characterization of molecular mechanisms that cause disease in individual patients is often unknown. (biomedcentral.com)
Disorders of gene dosage, ranging from aneuploidies to copy number variations (CNVs), are increasingly recognized as high-impact genetic risk factors for neuropsychiatric disease [ 1 ]. (biomedcentral.com)

This motivated us to evaluate the effect of training population sizes and composition, as well as the impact of marker density and sequencing depth on phenotype prediction for the species. (nature.com)
I don't think one can make any general prediction about the phenotype of R_, r_ or __ without having a priori knowledge of the biological pathway (incl. (stackexchange.com)
The results of our phenotype analysis also indicate that it is more likely that a panel of tumor biological factors instead of only one single factor may be needed for better prediction of chemotherapy response. (lu.se)

The difference between the heterozygous and homozygous phenotypes is likely related to gene product dosage effect. (bmj.com)

The frequency and expression of homoeologous gene alleles showing strong expression dosage bias are predictive of variation in yield-related traits, and have likely been impacted by breeding for increased productivity. (tamu.edu)

One hundred and ninety-three healthy Chinese Dai volunteers were identified with respect to CYP2C19 by genotype and phenotype analyses. (nih.gov)
The CYP2C19 genotype analysis is largely consistent with the mephenytoin phenotype analysis. (nih.gov)
Amelogenesis imperfecta: genotype-phenotype studies in 71 families. (medlineplus.gov)
We have developed a novel algorithm (PVP) which augments existing strategies by using the similarity of the patients phenotype to known phenotype-genotype data in human and model organism databases to further rank potential candidate genes. (plos.org)

The Parkinson's disease genes pink1 and parkin , which encode a mitochondrially targeted protein kinase, and an E3 ubiquitin ligase, respectively, participate in a key mitochondrial quality-control pathway that eliminates damaged mitochondria. (sdbonline.org)

A large number of NDD genes have been identified in cases where varying phenotypes depend on the type of inheritance (for example, dominant or recessive), the nature (for example missense or truncating) or location of the mutation. (mdpi.com)

CMT type 1 is a disorder of peripheral myelination resulting from a mutation in the peripheral myelin protein-22 ( PMP22 ) gene. (medscape.com)
This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)

A reduction of 50% in the gene dosage of Gli3 in a Gli2-/- background resulted in oesophageal atresia with tracheo-oesophageal fistula and a severe lung phenotype. (nih.gov)

Small deletions remove one or a few nucleotides within a gene, while larger deletions can remove an entire gene or several neighboring genes. (wearefibro.org)
Deletions occur when there is homologous but unequal recombination between gene sequences. (wearefibro.org)
Nucleotide sequences change places with the target gene during homologous recombination and are left behind as a genetic scar, undermining the effectiveness of subsequent deletions. (wearefibro.org)

[ 4 ] Gene discovery has been revolutionized by new high-throughput molecular technologies. (medscape.com)
Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. (plos.org)
A molecular model of heterosis suggests that expression alteration of regulatory genes modulate expression of housekeeping genes and output traits in hybrids and allopolyploids, leading to growth vigor. (utexas.edu)

and gene interaction network) by which this particular locus is affecting the phenotype. (stackexchange.com)
By virtue of having 2 X chromosomes, females have 2 loci for every X-linked gene, as compared with a single locus in males. (msdmanuals.com)

This determined how hierarchical interactions between regulatory elements orchestrate robust parent-specific expression, with implications for non-imprinted gene regulation. (nature.com)
Allopolyploidy greatly expands the range of possible regulatory interactions among functionally redundant homoeologous genes. (tamu.edu)
Gene regulatory network (GRN) inference that incorporates single-cell RNA-seq (scRNA-seq) differentiation trajectories or RNA velocity can reveal causal links between transcription factors and their target genes. (bilkent.edu.tr)
We also applied Velorama to study cell differentiation in pancreas, dentate gyrus, and bone marrow from real datasets and obtained intriguing evidence for the relationship between regulator interaction speeds and mechanisms of gene regulatory control during differentiation. (bilkent.edu.tr)
The gain and losses of important genes and regulatory elements due to SVs will impact phenotype causing disease such as cancer and sex development disorders. (mdanderson.org)
The sensitivity and specificity of such testing can now be improved as a result of the recent discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene. (cdc.gov)
The discovery of the Cystic Fibrosis Transmembrane Conductance Regulatory (CFTR) gene (5) renewed interest in this possibility, as the sensitivity and specificity of testing could be improved through DNA-based testing. (cdc.gov)

download this table as a .txt file using the Download button or click Analyze to further view and analyze the list of target genes using GO Term Finder, GO Slim Mapper, SPELL, or YeastMine. (yeastgenome.org)

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. (medlineplus.gov)

Inhibition of parkin or Pink1 through the induction of stable RNAi transgene in the Ddc-Gal4-expressing neurons results in such phenotypes to model PD. (sdbonline.org)
We found a significantly lower expression of key autophagy- (ATG-) related genes in primary AML as compared to healthy granulocytes, an increased autophagic activity during all- trans retinoic acid- (ATRA-) induced neutrophil differentiation, and an impaired AML differentiation upon inhibition of ATG3, ATG4D, and ATG5. (hindawi.com)

Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). (biomedcentral.com)

Gene therapies for rare diseases are under threat. (cdc.gov)
Realising the potential of gene therapies for rare and ultra-rare inherited diseases. (cdc.gov)
However, despite promising results across a range of rare diseases, transformative gene therapies may not be available and accessible to patients for non-medical reasons. (cdc.gov)

The contribution of CCL3L1 gene dosage could be teased apart from that of the noncopy-dependent variant of CCR5, already known to confer some resistance to HIV infection and HIV progression. (the-scientist.com)
The custom-designed targeted NGS gene panel enabled concurrent variant screening for these disorders. (cdc.gov)

The protein product of the murine double minute gene 2 (mdm-2) plays a central role in the regulation of p53. (lu.se)

Heterozygous parents can be asymptomatic but have clinically obvious macular phenotypes with or without peripheral retinal findings, which can be helpful in making the genetic diagnosis in affected children. (bmj.com)

Target gene analyses of 39 amelogenesis imperfecta kindreds. (medlineplus.gov)

In a recent study, we found that altering rhythmic amplitudes of circadian regulators increases expression of downstream genes in chlorophyll biosynthesis and starch metabolism in Arabidopsis hybrids and allopolyploids, leading to growth vigor. (utexas.edu)
IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration. (ox.ac.uk)

For example, Drosophila containing only one copy of the wild type Notch gene has visible wing abnormalities but otherwise seems to function normally. (wikipedia.org)

And research published in January documented the first instance of the resulting gene-dosage effect on disease susceptibility: the effect of copy number. (the-scientist.com)

However, the latter group, lacking PTEN protein phosphatase activity additionally showed lymphocyte infiltration around PIN and an increased immune cell gene expression signature. (bvsalud.org)
We show that biallelic Igf2 supply potentiates a previously unreported Pten(+/-) placental phenotype and results in strain-dependent cardiac hyperplasia and neonatal lethality. (ox.ac.uk)

This analysis identified genes that, when deleted, decrease the fitness of specific disomic strains as well as those that impair the proliferation of a broad range of aneuploidies. (yeastgenome.org)
Functional annotation of gene models suggested that many overlapping biological processes are associated with cancer outcomes in RT treated and non-RT treated patients, including proliferation and immune responses. (bvsalud.org)
To further characterise our model of induced torpor, the zebrafish model was compared with hepatic transcriptomic data from hibernating grizzly bears (Ursus arctos horribilis) and active controls revealing conserved responses in gene expression associated with anti-apoptotic processes, DNA damage repair, cell survival, proliferation, and antioxidant response. (bvsalud.org)

as the two alleles for that gene. (stackexchange.com)
It so happens that null alleles are very often recessive, because usually one working copy of a gene is fine. (stackexchange.com)

In most eukaryotes studied, ubiquitin is encoded by two classes of genes: (i) The first comprises genes coding for a single copy of ubiquitin fused to ribosomal proteins (r-proteins), most commonly eL40 and eS31. (123dok.net)

fewer than two copies of such a gene results in lethality. (wikipedia.org)
The Pink1/parkin pathway plays a role in the quality control mechanism aimed at eliminating defective mitochondria, and the failure of this mechanism results in a reduced lifespan and impaired locomotor ability, among other phenotypes. (sdbonline.org)
Presumably it is the increased gene dosage of DFNA49 that results in hearing loss. (himelblog.com)
Defective development of the embryonic radial ray (eg, aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms, and phocomelia. (medscape.com)

Gene therapy is experimental but in the future may help correct both somatic and neurologic abnormalities in a lysosomal storage disorder. (medscape.com)

Receptor for Advanced Glycation End-Products ( Ager gene) encodes RAGE, a transmembrane protein belonging to the immunoglobulin (Ig) superfamily of receptors. (elifesciences.org)
Early stages of B-cell differentiation can be identified by the status of the immunoglobulin genes and by the cell surface markers CD34, CD19, and surface immunoglobulin (sIg). (medscape.com)

In the autosomal recessive form of amelogenesis imperfecta, two copies of the ENAM gene in each cell are altered. (medlineplus.gov)
extra copies of genes can affect phenotypes! (himelblog.com)

[ 1 ] Its genetic spectrum spans more than 80 genes. (medscape.com)

Moreover, substitution with autophosphorylation-deficient PINK1 fails to rescue pink1 null mutant phenotypes. (sdbonline.org)
the mutant virus was carrying the histidine-to-tyrosine substitution at position 275, which conferred the quantitative RT-PCR result and the H275Y phenotype of oseltamivir-resistant pandemic (H1N1) 2009. (cdc.gov)

ClinGen Gene-Disease Validity Classification (ClinGen Validity) - Provides a semi-qualitative measurement for the strength of evidence of a gene-disease relationship. (genap.ca)

Duplication of the gene encoding the myelin protein PMP22 causes the hereditary neuropathy Charcot-Marie-Tooth disease 1A (CMT1A), characterized by hypomyelination of medium to large caliber peripheral axons. (biorxiv.org)

Studies in yeast have identified a series of autophagy- (ATG-) related genes forming the autophagy machinery. (hindawi.com)

In the autosomal dominant form, one copy of the ENAM gene in each cell is altered. (medlineplus.gov)

Unmasking a role for sex chromosomes in gene silencing. (duke.edu)

You will notice that the region and gene dosage sensitivity tracks have similar fields (Figure 3). (goldenhelix.com)
Mouseover on items shows the supporting evidence of dosage sensitivity. (genap.ca)
Tracks can be filtered according to the supporting evidence of dosage sensitivity. (genap.ca)

Anatomy19

Organisms13

Diseases21

Chemicals and Drugs47

Analytical, Diagnostic and Therapeutic Techniques and Equipment34

Psychiatry and Psychology1

Phenomena and Processes104

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science5

Health Care2

Mutations14

Chromosome15

Genomic6

Allele11

Genetics2

Specific phenotype1

Pathogenic6

Haploinsufficiency2

Phenotypic5

Variants11

Quantitative Trai1

Genome8

Humans1

Developmental5

Deletion7

Duplications2

Mice4

Clinical7

CNVs3

Prediction3

Homozygous1

Homoeologous gene1

Genotype4

Encode1

Inheritance1

Mutation2

Severe1

Deletions3

Molecular3

Locus2

Regulatory7

Target genes1

Candidate genes1

Inhibition2

Chromosomal1

Diseases3

Variant2

Regulation1

Retinal1

Analyses1

Metabolism2

Drosophila1

Susceptibility1

PTEN2

Proliferation3

Alleles2

Proteins1

Results4

Abnormalities1

Immunoglobulin2

Copies2

Spectrum1

Mutant2

ClinGen1

Peripheral1

Yeast1

Dominant1

Chromosomes1

Sensitivity3