Genetically-directed Sparse Neuronal Labeling in BAC Transgenic Mice through Mononucleotide Repeat Frameshift
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep43915
Abstract: Mosaicism with Repeat Frameshift (MORF) allows a single Bacterial Artificial Chromosome (BAC) transgene to direct sparse labeling of genetically-defined neuronal populations in mice. The BAC transgene drives cell-type-specific transcription of an out-of-frame mononucleotide repeat that… read more here.
Keywords: frameshift; bac; mononucleotide repeat; mice ... See more keywords
PredCID: prediction of driver frameshift indels in human cancer
Sign Up to like & getrecommendations! Published in 2021 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbaa119
Abstract: The discrimination of driver from passenger mutations has been a hot topic in the field of cancer biology. Although recent advances have improved the identification of driver mutations in cancer genomic research, there is no… read more here.
Keywords: frameshift; frameshift indels; driver frameshift; cancer ... See more keywords
Roles for mycobacterial DinB2 in frameshift and substitution mutagenesis
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DOI: 10.1101/2022.08.14.503212
Abstract: Translesion synthesis mediated by translesion polymerases is a conserved mechanism of DNA damage tolerance. In bacteria, DinB enzymes are widely distributed promutagenic translesion polymerases. The role of DinBs in mycobacterial mutagenesis was unclear until recent… read more here.
Keywords: frameshift; substitution; translesion; dinb2 ... See more keywords
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200025
Abstract: Background and Objectives Clark-Baraitser syndrome is characterized by intellectual disability with or without autism spectrum disorders, speech delay, motor delay, behavioral abnormalities, and facial dysmorphism. It is caused by a heterozygous pathogenic variant in the… read more here.
Keywords: intellectual disability; frameshift; novel synonymous; gene ... See more keywords
Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2023.1119900
Abstract: Serrated polyposis syndrome (SPS) is one of the most frequent polyposis syndromes characterized by an increased risk for developing colorectal cancer (CRC). Although SPS etiology has been mainly associated with environmental factors, germline predisposition to… read more here.
Keywords: frameshift; pold1; serrated polyposis; frameshift variant ... See more keywords
Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.978598
Abstract: Background to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.85_86del denominated NKX2-1DEL) identified in a family presenting with isolated respiratory disease, in comparison to another frameshift variant (c.254dup denominated NKX2-1DUP)… read more here.
Keywords: frameshift; microscopy; lung; nkx2 ... See more keywords
mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (−C)] and Sciacca [α1 cod109 (−C)]
Sign Up to like & getrecommendations! Published in 2021 at "Biomedicines"
DOI: 10.3390/biomedicines9101390
Abstract: An insertion or deletion of a nucleotide (nt) in the penultimate or the last exon can result in a frameshift and premature termination codon (PTC), giving rise to an unstable protein variant, showing a dominant… read more here.
Keywords: frameshift; last exon; sciacca; sciacca cod109 ... See more keywords
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2021 at "Brain Sciences"
DOI: 10.3390/brainsci11050614
Abstract: The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as ‘pure’ when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and ‘complex’ when associated… read more here.
Keywords: ptpn23; ptpn23 variants; frameshift; hereditary spastic ... See more keywords
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
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DOI: 10.3390/genes12101494
Abstract: Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes… read more here.
Keywords: homozygous akna; frameshift; akna frameshift; family ... See more keywords
Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13030543
Abstract: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants… read more here.
Keywords: consanguineous pakistani; xeroderma pigmentosum; frameshift; polh gene ... See more keywords
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome
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DOI: 10.3390/ijms18050999
Abstract: Lynch syndrome (LS), the most frequent form of hereditary colorectal cancer, involves mutations in mismatch repair genes. The aim of this study was to identify mutations in MSH6 from 97 subjects negative for mutations in… read more here.
Keywords: msh6; segregation msh6; incomplete segregation; frameshift ... See more keywords