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 37

System / cell line: mutation ✕ Assay: antibody ✕ Clear

Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

PMID 11384100 · PMC2363669 · British journal of cancer · 2001 · 7 claims · 6 setups

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BGP positive foci occur sporadically in the transitional mucosa adjacent to 'de novo' colorectal carcinomas in all cases studied

colorectal microdissected pcr-amplified immunohistochemistry pcr-sscp cloning
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

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Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups

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GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers

peripheral postmortem hek293 qrt-pcr microarray rt-pcr
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
Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.

PMID 11879542 · PMC128918 · Arthritis research · 2002 · 8 claims · 6 setups

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Antibody sequences that violate normal ontogenic/developmental constraints indicate a failure of B-cell regulation

peripheral diseased rheumatoid autoimmune immunoglobulin single-cell cloning
The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.

PMID 14970869 · PMC2410163 · British journal of cancer · 2004 · 7 claims · 7 setups

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CHEK2*1100delC has no major contribution in oesophageal carcinogenesis

oesophageal barrett's dysplastic dutch allele-specific polymorphic immunohistochemistry
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.

PMID 19122847 · PMC2585750 · Circulation. Arrhythmia and electrophysiology · 2008 · 7 claims · 5 setups

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A missense R99H mutation in KCNE3 was identified in a Brugada Syndrome proband and cosegregates with the phenotype in the family (4/4 phenotype-positive, 0/3 phenotype-negative members carried it)

genomic cho-k1 left ventricular sscp whole-cell co-immunoprecipitation
TP53 mutations, amplification of P63 and expression of cell cycle proteins in squamous cell carcinoma of the oesophagus from a low incidence area in Western Europe.

PMID 11531258 · PMC2364124 · British journal of cancer · 2001 · 8 claims · 5 setups

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TP53 mutations were detected in 36% (12/33) of SCCE from the low-incidence Lyon area, lower than the 56-80% reported in high-incidence areas

microdissected deparaffinized oesophageal genomic ttge immunohistochemistry western
beta- Catenin mutations and aberrant nuclear expression during endometrial tumorigenesis.

PMID 11161379 · PMC2363713 · British journal of cancer · 2001 · 7 claims · 4 setups

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Cell membrane β-catenin immunoreactivity shows a stepwise decrease from normal endometrium, through atypical hyperplasia, to grade 3 carcinoma.

endometrial immunohistochemistry rt-pcr pcr
Increased constraints on MC4R during primate and human evolution.

PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

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There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

hgdp-ceph germans central additional dhplc direct coding
Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.

PMID 18784923 · PMC2755762 · Annals of hematology · 2009 · 6 claims · 4 setups

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A non-radioactive, enzyme-coupled luminometric assay can quantify Ras activation as %GTP/(GTP+GDP) with high sensitivity (detects 1 fmol GTP)

bone n=23 3t3 ras genomic
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups

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A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.

genomic laser-capture cell-free hela sscp loss transcription
Prevalence of A2143G mutation of H. pylori-23S rRNA in Chinese subjects with and without clarithromycin use history.

PMID 18507832 · PMC2427034 · BMC microbiology · 2008 · 7 claims · 6 setups

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A2143G point mutation of the H. pylori 23S rRNA gene causes clarithromycin resistance

fasting subjects serum pylori pcr 13c-urea elisa
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

family sural nefl-null sw-13 clinical genetic immunohistochemistry
Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.

PMID 15494720 · PMC2409947 · British journal of cancer · 2004 · 8 claims · 7 setups

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Significant overexpression of p53 protein was found in 48% of 74 astrocytic tumours

archival subset recombinant same immunohistochemistry antibody cytokeratin
FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer.

PMID 17668422 · PMC2443273 · The Journal of pathology · 2007 · 8 claims · 4 setups

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FGFR3 mutations occur in 42% of primary urothelial carcinomas and are significantly associated with low tumour grade and stage

urothelial tumour direct manual immunohistochemistry
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

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OPTC is a candidate gene involved in POAG pathogenesis

genomic pcr optc retinal pcr-sscp dhplc sequencing
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.

PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups

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HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH

peripheral genomic nuclear mel cation reverse-phase denaturing
Escape from autologous neutralizing antibodies in acute/early subtype C HIV-1 infection requires multiple pathways.

PMID 19763269 · PMC2741593 · PLoS pathogens · 2009 · 8 claims · 7 setups

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Viral escape from autologous Nab occurred repeatedly (cyclically) throughout the first two years of infection in two subtype C-infected subjects despite high-titer Nab responses.

hiv-1 longitudinal 0-month single pseudovirus single site-directed
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

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CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

ebv-transformed genomic father peripheral intracellular snp sequencing

Experiments

Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

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

Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.

The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.

Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.

TP53 mutations, amplification of P63 and expression of cell cycle proteins in squamous cell carcinoma of the oesophagus from a low incidence area in Western Europe.

beta- Catenin mutations and aberrant nuclear expression during endometrial tumorigenesis.

Increased constraints on MC4R during primate and human evolution.

Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

Prevalence of A2143G mutation of H. pylori-23S rRNA in Chinese subjects with and without clarithromycin use history.

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.

FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer.

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.

Escape from autologous neutralizing antibodies in acute/early subtype C HIV-1 infection requires multiple pathways.

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.