ANAPC2
2001). "Human APC2 localization and allelic imbalance". Cancer Res. 61 (21): 7978-84. PMID 11691822. Strausberg RL, Feingold EA ...
SNP array
High density SNP arrays help scientists identify patterns of allelic imbalance. These studies have potential prognostic and ... Copy-neutral LOH is a form of allelic imbalance. In copy-neutral LOH, one allele or whole chromosome from a parent is missing. ... "Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays". Genome Research. 10 (8): 1126-37. doi ...
Mevalonate kinase
Fogarty MP, Xiao R, Prokunina-Olsson L, Scott LJ, Mohlke KL (May 2010). "Allelic expression imbalance at high-density ...
Tumour heterogeneity
Allelic imbalances may be difficult to verify using microsatellite markers, therefore requiring verification by an independent ... This may occur through the detection of allelic imbalances (tumour DNA is compared to germline DNA), amplification of ... CGH provides unbiased coverage and allows for small-scale allelic imbalances to be detected (SNP arrays). Sequencing will ... Geng, Yu (2017). "Identifying Heterogeneity Patterns of Allelic Imbalance on Germline Variants to Infer Clonal Architecture". ...
PyClone
It also accounts for Allelic Imbalances, where alleles of a gene are expressed at different levels in a given cell, which may ... "Identifying Heterogeneity Patterns of Allelic Imbalance on Germline Variants to Infer Clonal Architecture". In Huang, De-Shuang ... This is due to allelic prevalence depending on multiple factors such as the proportion of 'contaminating' normal cells in the ... When multiple samples are sequenced, subclonal populations that are similar in allelic prevalence in some cells but not others ...
Cyclin D1
... allelic imbalance and overexpression in sporadic human pituitary tumors". Clinical Cancer Research. 5 (8): 2133-9. PMID ...
Anxiety
October 2017). "GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network ... Anxiety disorder appears to be a genetically inherited neurochemical dysfunction that may involve autonomic imbalance; ... decreased GABA-ergic tone; allelic polymorphism of the catechol-O-methyltransferase (COMT) gene; increased adenosine receptor ...
Silkie
May 2011). "The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development ...
List of RNA-Seq bioinformatics tools
MMSEQ is a pipeline for estimating isoform expression and allelic imbalance in diploid organisms based on RNA-Seq. The pipeline ...
Human epigenome
was aimed to construct the maps of allelic imbalances in DNA methylation, gene transcription, and also of histone modifications ... DNA methylation imbalances between homologous chromosomes show sequence-dependent behavior. Difference in the methylation state ... The results of WGBS tested on 49 methylomes revealed CpG methylation imbalances exceeding 30% differences in 5% of the loci. On ... The results of WGBS tested on 49 methylomes revealed CpG methylation imbalances exceeding 30% differences in 5% of the loci. ...
Virtual karyotype
... which have allelic imbalance at a number of chromosomal loci, including 5q, 8p, 17p, and 18q (Fig 7). Microsatellite ... "Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome- ... Allelic losses on 1p and 19q, either separately or combined, are more common in classic oligodendrogliomas than in either ... Barbashina V, Salazar P, Holland EC, Rosenblum MK, Ladanyi M (1 February 2005). "Allelic losses at 1p36 and 19q13 in gliomas: ...
CUX1
Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome- ...
Molecular Inversion Probe
MIP, for instance, can be used to capture targets for SNPgenotyping, copy number variation or allelic imbalance studies, to ...
PTPRD
July 2007). "Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected ...
Immature teratoma
... and extensive allelic imbalances shared across mature, immature, and disseminated components". Modern Pathology. 33 (6): 1193- ...
RASEF
It appears to be the mechanism targeting RASEF in uveal melanoma, and allelic imbalance at this locus supports a TSG role for ...
Teratoma
... and extensive allelic imbalances shared across mature, immature, and disseminated components". Modern Pathology. 33 (6): 1193- ...
HORMAD1
... and induced widespread allelic imbalances in the genome with implications for platinum and PARP inhibitor sensitivity. GRCh38: ...
Kári Stefánsson
"A genome-wide study of allelic imbalance in human testicular germ cell tumors using microsatellite markers," Cancer Genetics ...
List of MeSH codes (G13)
... allelic imbalance MeSH G13.920.590.029.530 - loss of heterozygosity MeSH G13.920.590.029.530.175 - chromosome deletion MeSH ...
HRDetect
... telomeric-allelic imbalance (TAI), and large-scale state transitions (LST) scores) It is based on a supervised learning method ...
Online Mendelian Inheritance in Man
For example, allelic variants in the HBB gene (141900) are numbered 141900.0001 through 141900.0538. Because OMIM has ... DECIPHER, a database of chromosomal imbalance and associated phenotype in humans, using Ensembl resources. MARRVEL, a website ... "Hemoglobin beta locus or HBB (141900): Allelic variants". Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans ... In cases of allelic heterogeneity, the MIM number of the entry is followed by a decimal point and a unique 4-digit number ...
Human genetics
To correct this imbalance, mammalian females have evolved a unique mechanism of dosage compensation. In particular, by way of ... The Hardy-Weinberg principle is a widely used principle to determine allelic and genotype frequencies. In addition to nuclear ...
Contiguous gene syndrome
A segmental aneuploidy syndrome is a subtype of CGS that regularly recur, usually due to non-allelic homologous recombination ... Mechanisms and Consequences of Gene Dosage Imbalance". In Scriver, C.W.; Beaudet, A.L.; Sly, W.S.; et al. (eds.). Metabolic and ...
X-linked reticulate pigmentary disorder
XLPDR lacks allelic heterogeneity, meaning that the disorder is uniquely associated with the NM_016937.3:c.1375-354A>G intronic ... Gastrointestinal disorders Kidney disease Kidney stones Urinary infections Webbed feet or hands Electrolyte imbalance Retinitis ...
Lymphangioleiomyomatosis
Lung remodeling may be mediated by an imbalance between matrix degrading metalloproteinases (MMPs) and their endogenous ... LAM cells carry bi-allelic inactivation of the TSC2 genes, consistent with the "two-hit" tumor suppressor gene model. The ...
Surfactant metabolism dysfunction
These mutations cause total absence or loss-of-function of SP-B and lead to imbalance in surfactant homeostasis. Since SP-B has ... There are more than 150 different mutations throughout ABCA3 gene with various allelic heterogeneity, making it the biggest ...
Surfactant protein A1
Karinch AM, Floros J (Jan 1995). "5' splicing and allelic variants of the human pulmonary surfactant protein A genes". American ... Floros J, Wang G (May 2001). "A point of view: quantitative and qualitative imbalance in disease pathogenesis; pulmonary ...
Surfactant protein A2
Karinch AM, Floros J (January 1995). "5' splicing and allelic variants of the human pulmonary surfactant protein A genes". ... Floros J, Wang G (May 2001). "A point of view: quantitative and qualitative imbalance in disease pathogenesis; pulmonary ...
Epistasis
If a mutation causes a reduction in a particular structural component, this can bring about an imbalance in morphogenesis and ... Two bacteriophage T4 mutants defective at different locations in the same gene can undergo allelic complementation during a ... CRICK FH; ORGEL LE (1964). "The Theory of Inter-Allelic Complementation". Journal of Molecular Biology. 8: 161-165. doi:10.1016 ... This is sometimes called allelic complementation, or interallelic complementation. It may be caused by several mechanisms, for ...