Loss of heterozygosity of TRIM3 in malignant gliomas [PDF]
BMC Cancer, 2009 Background Malignant gliomas are frequent primary brain tumors associated with poor prognosis and very limited response to conventional chemo- and radio-therapies.
Dolder Béatrice +5 more
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Loss of Heterozygosity and Its Importance in Evolution. [PDF]
J Mol Evol, 2023 AbstractLoss of heterozygosity (LOH) is a mitotic recombination event that converts heterozygous loci to homozygous loci. This mutation event is widespread in organisms that have asexual reproduction like budding yeasts, and is also an important and frequent mutation event in tumorigenesis.
Smukowski Heil C.
europepmc +3 more sources
JLOH: Inferring loss of heterozygosity blocks from sequencing data [PDF]
Computational and Structural Biotechnology Journal, 2023 Heterozygosity is a genetic condition in which two or more alleles are found at a genomic locus. Individuals that are the offspring of genetically divergent yet still interfertile parents (e.g. hybrids) are highly heterozygous.
Matteo Schiavinato +3 more
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A new method to detect loss of heterozygosity using cohort heterozygosity comparisons [PDF]
BMC Cancer, 2010 Background Loss of heterozygosity (LOH) is an important marker for one of the 'two-hits' required for tumor suppressor gene inactivation. Traditional methods for mapping LOH regions require the comparison of both tumor and patient-matched normal DNA ...
Lea Rod A +6 more
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Targeting tumor vulnerabilities associated with loss of heterozygosity [PDF]
Molecular & Cellular Oncology, 2020 We show that N-acetyltransferase 2 (NAT2) loss of heterozygosity can be targeted in >4% of colorectal cancers with the use of a small molecule. We identify and describe the effect of a compound that impairs the growth of colorectal tumors with slow NAT2 ...
Veronica Rendo +2 more
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Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma. [PDF]
Int J Mol Sci, 2022 ATM germline pathogenic variants were recently found enriched in high-risk melanoma patients. However, ATM loss of heterozygosity (LOH) has never been investigated in melanoma and, therefore, a causal association with melanoma development has not been established yet.
Pastorino L +18 more
europepmc +5 more sources
Value of the loss of heterozygosity to BRCA1 variant classification [PDF]
npj Breast Cancer, 2022 At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging.
Elizabeth Santana dos Santos +25 more
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Cerebral venous thrombosis with hyperhomocysteinemia due to loss of heterozygosity at methylenetetrahydrofolate reductase (MTHFR) locus: a case report [PDF]
BMC Neurology, 2023 Background Loss of heterozygosity (LOH) at methylenetetrahydrofolate reductase (MTHFR) locus has been reported in tumor tissue. But the mutation was never reported in cerebral venous thrombosis (CVT) with hyperhomocysteinemia (HHcy) before.
Mingjie Zhang, Bingxin Shi, Mangsuo Zhao
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CRISPR-Cas9 Editing Induces Loss of Heterozygosity in the Pathogenic Yeast Candida parapsilosis [PDF]
mSphere, 2022 Genetic manipulation is often used to study gene function. However, unplanned genome changes (including single nucleotide polymorphisms [SNPs], aneuploidy, and loss of heterozygosity [LOH]) can affect the phenotypic traits of the engineered strains. Here,
Lisa Lombardi +4 more
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Loss of heterozygosity in tuberous sclerosis hamartomas. [PDF]
Journal of Medical Genetics, 1996 We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the TSC1 gene on 9q34. We now describe the spectrum of LOH in 51 TSC hamartomas from 34 cases of TSC.
Tiina Sepp +2 more
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