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 592

System / cell line: mutations ✕ Clear

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

PMID 20057908 · PMC2802296 · Molecular vision · 2009 · 8 claims · 4 setups

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Mutations in CYP1B1 are a major cause of PCG in the studied patient cohort

genomic cyp1b1 pcg pcr missense clinical
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

families genes individuals kidney genome-wide sanger resequencing
Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups

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The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients

peripheral serum pcr-rflp sanger biochemical
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
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups

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Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.

unrelated lca genomic allele-specific bidirectional electroretinogram
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups

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BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls

genomic clinical pcr-sscp restriction kaplan-meier
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups

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No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes

patients unaffected sanger restriction
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups

Has reproduction · 75

Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes

patients family saccharomyces cho-k1 mutation deletion yeast
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups

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The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)

hnpcc tumor yeast families germline microsatellite functional
Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

PMID 8609062 · PMC5921065 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 2 setups

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Mutations of hMLH1 or hMSH2 play only a limited role in the development of sporadic endometrial carcinomas.

sporadic matched mutational
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
p53 mutations occur in clinical, but not latent, human prostate carcinoma.

PMID 7737911 · PMC5920585 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups

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p53 point mutations occur in clinical prostate cancer but not in latent (subclinical) prostate carcinoma

prostate sscp rflp direct
TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.

PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups

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CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue

archival pcr breast tumour pcr-cdge direct restriction
BRCA1 mutations in southern England.

PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups

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Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone

genomic pcr clinical heteroduplex sequencing pcr
p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.

PMID 9514057 · PMC2149958 · British journal of cancer · 1998 · 8 claims · 6 setups

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p53 mutations were found in 8 of 12 HCCs with cirrhosis due to viral hepatitis and in both patients with sarcomatoid change

resected exon p53 hcc gc-clamped sscp restriction
The promoter and the enhancer region of the KLK 3 (prostate specific antigen) gene is frequently mutated in breast tumours and in breast carcinoma cell lines.

PMID 10188912 · PMC2362704 · British journal of cancer · 1999 · 7 claims · 5 setups

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No mutations were found in the protein-coding exons of the PSA gene in breast tumours or cell lines

breast genomic immunofluorometric receptor pcr
Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.

PMID 10098750 · PMC2362216 · British journal of cancer · 1999 · 6 claims · 4 setups

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p53 mutations are detected at relapse far more frequently in ALL (28.6%) than in AML (7.3%)

bone presentation b-cells direct allele-specific igh
BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.

PMID 10952777 · PMC2363542 · British journal of cancer · 2000 · 7 claims · 4 setups

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11 mutations (9 BRCA1, 2 BRCA2) were identified across 105 Turkish patients using combined PTT, sequencing, and heteroduplex analysis.

peripheral genomic truncation direct heteroduplex
Multiple molecular marker testing (p53, C-Ki-ras, c-erbB-2) improves estimation of prognosis in potentially curative resected non-small cell lung cancer.

PMID 10945494 · PMC2374666 · British journal of cancer · 2000 · 6 claims · 4 setups

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Testing 3 molecular markers (c-Ki-ras, p53, c-erbB-2) together improves estimation of prognosis compared to single marker testing and defines low- and high-risk groups for treatment failure in R0-resected NSCLC.

paired frozen nsclc sscp immunohistochemistry clinical

Experiments

Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

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

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.

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

p53 mutations occur in clinical, but not latent, human prostate carcinoma.

TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.

BRCA1 mutations in southern England.

p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.

The promoter and the enhancer region of the KLK 3 (prostate specific antigen) gene is frequently mutated in breast tumours and in breast carcinoma cell lines.

Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.

BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.

Multiple molecular marker testing (p53, C-Ki-ras, c-erbB-2) improves estimation of prognosis in potentially curative resected non-small cell lung cancer.