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 245

Assay: polymorphism ✕ Clear

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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Mutations in USH2A are responsible for most cases of USH2

genomic family probands ush2a direct restriction single
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

genomic oa1 one gpr143 pcr heteroduplex junction-fragment
Cataloging coding sequence variations in human genome databases.

PMID 18974781 · PMC2570488 · PloS one · 2008 · 8 claims · 7 setups

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A significant proportion of CVs overlap between HGMD and dbSNP (4.36% of HGMD CVs registered in dbSNP; 8.11% of dbSNP CVs registered in HGMD), warranting caution when interpreting phenotypic relevance of concurrent CVs.

coding hapmap concurrent nssnps database hapmap amino
Design and analysis issues in genome-wide somatic mutation studies of cancer.

PMID 18692126 · PMC2820387 · Genomics · 2009 · 6 claims · 4 setups

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Two-stage (discovery + validation) sequencing designs efficiently allocate resources and can produce highly informative candidate driver gene lists even with relatively small sample sizes.

hypothetical panel colorectal germline simulation targeted genome-wide
PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

PMID 20035629 · PMC2806268 · BMC medical genetics · 2009 · 8 claims · 7 setups

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All UK vCJD cases tested (147/147) are methionine homozygous (MM) at PRNP codon 129

vcjd scjd scottish controls pcr-rflp full chi-squared
Sequence variations of GRM6 in patients with high myopia.

PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction
Genetic differences between avian and human isolates of Candida dubliniensis.

PMID 19788816 · PMC2819872 · Emerging infectious diseases · 2009 · 7 claims · 6 setups

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13 of 14 avian-associated C. dubliniensis isolates form a genetically distinct subgroup within MLST clade C1, separate from human isolates

candida fecal avian-associated multilocus pcr multiplex
A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups

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A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.

genomic excised left pcr pcr-restriction histopathology
PTEN / MMAC1 mutation and frequent loss of heterozygosity identified in chromosome 10q in a subset of hepatocellular carcinomas.

PMID 10760687 · PMC5926370 · Japanese journal of cancer research : Gann · 2000 · 8 claims · 3 setups

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A subset of HCC tumors show frequent allelic loss (LOH) on chromosome 10q, indicating putative tumor suppressor gene(s) on this arm.

paired pcr loh sscp direct
The role of X-chromosome inactivation in female predisposition to autoimmunity.

PMID 11056674 · PMC17816 · Arthritis research · 2000 · 6 claims · 2 setups

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Skewed X-chromosome inactivation in the thymus could lead to inadequate thymic deletion of T cells reactive to X-linked polymorphic self-antigens, predisposing to autoimmunity

peripheral fluorescent pcr
Processing and population genetic analysis of multigenic datasets with ProSeq3 software.

PMID 19797407 · PMC2778335 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 7 setups

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ProSeq3 is a program with a graphic user interface that simplifies preparation and basic population genetic analysis of multigenic DNA polymorphism datasets

software authors sequence polymorphism phylogenetic
p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.

PMID 8260365 · PMC1968651 · British journal of cancer · 1993 · 8 claims · 6 setups

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25.7% (29/113) of bone and soft tissue sarcomas show positive p53 immunostaining

frozen subset saos-2 immunohistochemistry southern pcr-single
Prognostic significance of p53 and ras gene abnormalities in lung adenocarcinoma patients with stage I disease after curative resection.

PMID 7852188 · PMC5919395 · Japanese journal of cancer research : Gann · 1994 · 6 claims · 5 setups

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Presence of p53 gene abnormalities is associated with shorter disease-free survival in stage I lung adenocarcinoma

formalin-fixed stage pcr-dgge immunohistochemistry pcr-rflp
APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

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Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

blood pcr pcr-amplified cdna chemical sequencing single-strand
p53 mutations in cervical carcinogenesis--low frequency and lack of correlation with human papillomavirus status.

PMID 8142262 · PMC1968818 · British journal of cancer · 1994 · 7 claims · 6 setups

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Somatic mutation in the p53 gene hotspot regions occurs infrequently in cervical carcinomas

cervical tumour paired hpv-positive immunocytochemistry pcr sequencing
Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.

PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups

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No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing

phaeochromocytoma pcr-amplified formalin-fixed single pcr-sscp restriction immunohistochemistry
p53 mutations, protein expression and cell proliferation in squamous cell carcinomas of the head and neck.

PMID 7710950 · PMC2033757 · British journal of cancer · 1995 · 6 claims · 4 setups

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There is a discrepancy between p53 immunoreactivity and p53 gene mutation status, with mutations found in similar proportions of immunopositive and immunonegative tumours.

formalin-fixed extracted p53-immunonegative scchn immunohistochemistry pcr-single sequencing
The role of p53 inactivation in human cervical cell carcinoma development.

PMID 7841033 · PMC2033612 · British journal of cancer · 1995 · 8 claims · 7 setups

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HPV DNA sequences were detected in 43 of 47 (91.5%) primary uterine cervical cancers

formalin-fixed cervical p53 recurrent pcr southern pcr-single-strand
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

Experiments

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Cataloging coding sequence variations in human genome databases.

Design and analysis issues in genome-wide somatic mutation studies of cancer.

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

Sequence variations of GRM6 in patients with high myopia.

Genetic differences between avian and human isolates of Candida dubliniensis.

A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

PTEN / MMAC1 mutation and frequent loss of heterozygosity identified in chromosome 10q in a subset of hepatocellular carcinomas.

The role of X-chromosome inactivation in female predisposition to autoimmunity.

Processing and population genetic analysis of multigenic datasets with ProSeq3 software.

p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.

Prognostic significance of p53 and ras gene abnormalities in lung adenocarcinoma patients with stage I disease after curative resection.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

p53 mutations in cervical carcinogenesis--low frequency and lack of correlation with human papillomavirus status.

Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.

p53 mutations, protein expression and cell proliferation in squamous cell carcinomas of the head and neck.

The role of p53 inactivation in human cervical cell carcinoma development.

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.