Search Results - "Panigrahi, Gagan B."
-
1
Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches
Published in PLoS genetics (01-10-2013)“…The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may…”
Get full text
Journal Article -
2
Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability
Published in Nucleic acids research (15-09-2014)“…R-loops, transcriptionally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases…”
Get full text
Journal Article -
3
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders
Published in Journal of Huntington's disease (01-01-2021)“…FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and single nucleotide variants of FAN1 have been linked to karyomegalic…”
Get more information
Journal Article -
4
Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSβ, but clustered slip-outs are poorly repaired
Published in Proceedings of the National Academy of Sciences - PNAS (13-07-2010)“…Expansions of CTG/CAG trinucleotide repeats, thought to involve slipped DNAs at the repeats, cause numerous diseases including myotonic dystrophy and…”
Get full text
Journal Article -
5
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus
Published in Nature structural & molecular biology (01-09-2010)“…Trinucleotide repeat expansions are linked to many diseases, and why there are differences in expansion rates according to tissue type or patient age is…”
Get full text
Journal Article -
6
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
Published in Nature genetics (01-02-2020)“…In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and…”
Get full text
Journal Article -
7
Mutagenic roles of DNA “repair” proteins in antibody diversity and disease-associated trinucleotide repeat instability
Published in DNA repair (01-07-2008)“…While DNA repair proteins are generally thought to maintain the integrity of the whole genome by correctly repairing mutagenic DNA intermediates, there are…”
Get full text
Journal Article -
8
In Vitro (CTG)·(CAG) Expansions and Deletions by Human Cell Extracts
Published in The Journal of biological chemistry (19-04-2002)“…The mechanism of disease-associated (CTG)·(CAG) expansion may involve DNA replication slippage, replication direction, Okazaki fragment processing,…”
Get full text
Journal Article -
9
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability
Published in Cell (26-10-2023)“…Expansions of repeat DNA tracts cause >70 diseases, and ongoing expansions in brains exacerbate disease. During expansion mutations, single-stranded DNAs…”
Get full text
Journal Article -
10
FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability
Published in Cell reports (Cambridge) (07-12-2021)“…Ongoing inchworm-like CAG and CGG repeat expansions in brains, arising by aberrant processing of slipped DNAs, may drive Huntington’s disease, fragile X…”
Get full text
Journal Article -
11
Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue
Published in Journal of clinical oncology (20-02-2019)“…Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR)…”
Get full text
Journal Article -
12
Human Mismatch Repair Protein hMutLα Is Required to Repair Short Slipped-DNAs of Trinucleotide Repeats
Published in The Journal of biological chemistry (07-12-2012)“…Mismatch repair (MMR) is required for proper maintenance of the genome by protecting against mutations. The mismatch repair system has also been implicated as…”
Get full text
Journal Article -
13
Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks
Published in DNA repair (01-06-2016)“…•Slipped DNAs persist following replication of a contraction biased template in the absence of mismatch repair.•Repair of contraction intermediate slipped DNAs…”
Get full text
Journal Article -
14
Slipped (CTG)(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair
Published in Nature structural & molecular biology (01-08-2005)“…Expansion of (CTG)*(CAG) repeats, the cause of 14 or more diseases, is presumed to arise through escaped repair of slipped DNAs. We report the fidelity of…”
Get full text
Journal Article -
15
Maternal germline-specific effect of DNA ligase I on CTG/CAG instability
Published in Human molecular genetics (01-06-2011)“…The instability of (CTG)•(CAG) repeats can cause >15 diseases including myotonic dystrophy, DM1. Instability can arise during DNA replication, repair or…”
Get full text
Journal Article -
16
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
Published in Genes chromosomes & cancer (01-02-2016)“…A 4‐month‐old male infant presented with severe developmental delay, cerebellar, brainstem, and cutaneous hemangiomas, bilateral tumors (vestibular,…”
Get full text
Journal Article -
17
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
Published in Nature genetics (01-03-2015)“…Adam Shlien, Peter Campbell, Uri Tabori and colleagues report genome and exome sequencing of biallelic mismatch repair deficiency cancer samples from 12…”
Get full text
Journal Article -
18
Absence of MutSbeta leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks
Published in DNA repair (16-04-2016)“…Typically disease-causing CAG/CTG repeats expand, but rare affected families can display high levels of contraction of the expanded repeat amongst offspring…”
Get full text
Journal Article -
19
Syntheses of oligonucleotide-amino acid conjugates: Using TentaGel and CPG matrices for the synthesis of 3′-phosphoryltyrosine-terminated oligonucleotides
Published in Tetrahedron letters (29-04-1996)“…3′-Phosphoryl-O-tyrosine terminated oligonucleotides were synthesized using controlled-pore glass (CPG) and TentaGel solid matrices. For the synthesis on CPG,…”
Get full text
Journal Article -
20
An infant with MLH 3 variants, FOXG 1 ‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
Published in Genes chromosomes & cancer (01-02-2016)“…A 4‐month‐old male infant presented with severe developmental delay, cerebellar, brainstem, and cutaneous hemangiomas, bilateral tumors (vestibular,…”
Get full text
Journal Article