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 16

System / cell line: peripheral ✕ Assay: missense ✕ Clear

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups

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ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk

germline breast denaturing sanger case-control
Mosaicism in von Hippel-Lindau disease: an event important to recognize.

PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups

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The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.

peripheral father's pcr proband dhplc sanger semiquantitative
Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups

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Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations

genomic pcr-amplified pcr truncation single-strand heteroduplex
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

peripheral wecare atm mutation case-control variant
Genetic and biochemical studies in Argentinean patients with variegate porphyria.

PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups

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All 18 studied VP patients harbored PPOX gene mutations in heterozygous state

peripheral blood relative urine pcr rt-pcr enzyme
BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

PMID 18645608 · PMC2452980 · International journal of medical sciences · 2008 · 8 claims · 5 setups

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BRCA1 mutations occur at unusually high frequency in young sporadic Algerian breast cancer cases (9.8%) compared to Western populations

peripheral algerian sanger mlpa microsatellite
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
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
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups

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Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age

peripheral patients mody young-onset pcr microsatellite variant
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

genomic pcr polycystin-1 czech denaturing sanger family
Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

genomic hela itgb1bp2 melusin direct minigene in-silico
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
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
Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.

PMID 19811662 · PMC2766370 · Molecular cancer · 2009 · 7 claims · 6 setups

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LCN-HRM enables detection and sequencing-based characterisation of low-level mutations that are undetectable by direct sequencing alone

hct116 ffpe genomic tx84 dideoxynucleotide high lcn-hrm
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

PMID 18470323 · PMC2373796 · Molecular vision · 2008 · 7 claims · 4 setups

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The R124C mutation (C417T) in exon 4 of TGFBI cosegregates with lattice corneal dystrophy type I in this Chilean family

members same genomic clinical stereopsis sanger
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

Experiments

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Mosaicism in von Hippel-Lindau disease: an event important to recognize.

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

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

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

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

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

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

Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

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