Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

Publications 1.3k Datasets 392.5k Experiments 195

Assay: microsatellite ✕ Clear

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups

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The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.

genomic affected microsatellite pcr allele-specific
Adverse prognosis of epigenetic inactivation in RUNX3 gene at 1p36 in human pancreatic cancer.

PMID 18475302 · PMC2391125 · British journal of cancer · 2008 · 7 claims · 5 setups

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RUNX3 promoter hypermethylation is frequent in primary pancreatic cancer tissue

pancreatic microsatellite methylation-specific bisulphite
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

affected family blood frmd7 microsatellite direct denaturing
Sequence determinants of human microsatellite variability.

PMID 20015383 · PMC2806349 · BMC genomics · 2009 · 6 claims · 4 setups

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Mean and maximum number of repeats across individuals are positively correlated with heterozygosity

hgdp-ceph genome calibrated microsatellite blastn sequence
Multiple epiphyseal dysplasia.

PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups

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An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members

family patients microsatellite sequencing clinical
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups

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Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series

parental genomic anonymized peripheral microsatellite direct mutation
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

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A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

peripheral genomic microsatellite direct mutation
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr clinical
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

PMID 19674475 · PMC2736932 · BMC medical genetics · 2009 · 7 claims · 3 setups

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A Pakistani consanguineous family with three pycnodysostosis-affected individuals shows genetic linkage to the CTSK locus on chromosome 1q21

pakistani genomic microsatellite pcr acii
A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PMID 11506491 · PMC2364106 · British journal of cancer · 2001 · 8 claims · 2 setups

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All seven North American melanoma-prone families carrying V126D share a haplotype consistent with a single common founder/ancestor for the mutation

melanoma-prone haplotype microsatellite maximum
Mutation rate at commonly used forensic STR loci: paternity testing experience.

PMID 15665391 · PMC3839336 · Disease markers · 2004 · 8 claims · 2 setups

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Microsatellite (STR) loci mutate at a higher rate than bulk genomic DNA, causing interpretation problems in paternity testing.

parent edta str extraction
ADZE: a rarefaction approach for counting alleles private to combinations of populations.

PMID 18779233 · PMC2732282 · Bioinformatics (Oxford, England) · 2008 · 6 claims · 2 setups

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A generalized rarefaction-based statistic can estimate the sample size-corrected number of distinct alleles private to any combination of populations, generalizing Kalinowski's (2004) private allelic richness to groups of populations.

populations simulated microsatellite computational
Proximal 6q, a region showing allele loss in primary breast cancer.

PMID 7841042 · PMC2033574 · British journal of cancer · 1995 · 8 claims · 1 setups

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A proximal region of 6q (6q13 to 6q16.3-q21) shows a markedly elevated frequency of allelic imbalance (mean 35.3%) across seven microsatellite markers, higher than background AI levels.

paired microsatellite
Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers.

PMID 9818024 · PMC5921952 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 4 setups

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RER+ phenotype (microsatellite instability at ≥2 of 7 loci) occurs in a subset (21-23%) of sporadic endometrioid endometrial adenocarcinomas but not in other histological types or endometrial hyperplasia

paired tumor hematoxylin-eosin-stained pcr sequencing histopathological
Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups

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No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases

sporadic evaluable histologically loh direct rt-pcr
Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.

PMID 15778432 · PMC1067522 · Nucleic acids research · 2005 · 8 claims · 8 setups

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Dinucleotide microsatellite alterations in human cancer fall into two distinct modes: Type A (length changes ≤6 bp) and Type B (changes ≥8 bp)

msh2− mlh1− lymphomas colorectal fluorescent sequencing immunohistochemistry
The molecular landscape of ASPM mutations in primary microcephaly.

PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

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ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family
Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.

PMID 11104560 · PMC2363466 · British journal of cancer · 2000 · 8 claims · 2 setups

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MBD4 mutations occur in 89% (17/19) of RER+ sporadic colorectal carcinomas when microdissected tumor sites are analyzed

microdissected frozen pcr comparison
Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3-13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes.

PMID 9155043 · PMC2228239 · British journal of cancer · 1997 · 8 claims · 4 setups

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Two commonly deleted regions on chromosome 12 were identified in ovarian cancer: 12p12.3-13.1 (6/23 samples) and 12q23-ter (7/23 samples)

ovarian loh pcr-sscp multiplex
Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.

PMID 10584868 · PMC2374316 · British journal of cancer · 1999 · 8 claims · 5 setups

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LOH at chromosome 16q21-q22.1 occurs in 100% of informative lobular breast tumours, the highest frequency of any region tested

lobular pcr loh loh pcr-sscp sequencing

Experiments

Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

Adverse prognosis of epigenetic inactivation in RUNX3 gene at 1p36 in human pancreatic cancer.

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

Sequence determinants of human microsatellite variability.

Multiple epiphyseal dysplasia.

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

Mutation rate at commonly used forensic STR loci: paternity testing experience.

ADZE: a rarefaction approach for counting alleles private to combinations of populations.

Proximal 6q, a region showing allele loss in primary breast cancer.

Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers.

Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.

The molecular landscape of ASPM mutations in primary microcephaly.

Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.

Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3-13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes.

Chromosome alterations and E-cadherin gene mutations in human lobular breast cancer.