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 50

System / cell line: coding ✕ Assay: microsatellite ✕ Clear

Genomic and epigenetic instability in colorectal cancer pathogenesis.

PMID 18773902 · PMC2866182 · Gastroenterology · 2008 · 8 claims · 7 setups

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Genomic instability (CIN or MSI) is a key early molecular step in colorectal tumorigenesis that may initiate rather than merely accompany the adenoma-carcinoma sequence

colon embryonic colorectal inter immunohistochemistry karyotype
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
Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.

PMID 19000305 · PMC2586028 · BMC cancer · 2008 · 7 claims · 6 setups

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16 PTP candidate genes containing coding mononucleotide repeats (cMNR) of at least 7 units were identified via bioinformatic analysis and screened in MSI-H cell lines, cancers, and adenomas

msi-h genome colorectal fragment bioinformatic sequencing
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups

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A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3

pakistani affected unrelated one microsatellite sanger mutation
Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

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Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

genomic predicted archival mutation targeted functional
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
Mutational analyses of multiple target genes in histologically heterogeneous gastric cancer with microsatellite instability.

PMID 10081489 · PMC5921733 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 5 setups

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MSI frequency in gastric cancers with histological heterogeneity was 35% (7/20 cases) and 28% (11/40 tumor DNAs), consistent with prior gastric cancer MSI studies.

formalin-fixed msi-positive surgically microsatellite pcr-sscp histopathological
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups

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MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors

proband's peripheral hmsh2 microsatellite direct targeted
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups

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Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy

pedigrees pedigree genomic ubiad1 microsatellite fine direct
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups

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The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap

peripheral genomic pcr leukocytes two-point direct pcr
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups

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A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family

genomic family skeletal blood microsatellite direct multiplex
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
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
Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.

PMID 9823979 · PMC2063196 · British journal of cancer · 1998 · 6 claims · 4 setups

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No somatic point mutations were found in the entire EB1 coding sequence in sporadic colorectal cancers or adenomas

sporadic pcr colorectal rt-pcr direct microsatellite
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups

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TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes

pakistani affected retina tissues linkage sanger race
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups

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Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families

genomic family ethnically affected genotyping two-point sanger
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

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POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

blood parental model sanger parental microsatellite
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
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

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Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

genomic affected patients linkage direct snp
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.

PMID 19858129 · PMC3030964 · Journal of medical genetics · 2010 · 7 claims · 5 setups

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Two unrelated PHP-I families each include at least one patient with a Gsα coding mutation (PHP-Ia) and another with GNAS imprinting defects (PHP-Ib)

genomic erythrocyte gnas sanger methylation-specific microsatellite

Experiments

Genomic and epigenetic instability in colorectal cancer pathogenesis.

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

Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

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

Mutational analyses of multiple target genes in histologically heterogeneous gastric cancer with microsatellite instability.

Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

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

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

Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

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

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.