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 70

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

Pathogenic mitochondrial DNA mutations are common in the general population.

PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups

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At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers

neonatal independent m.1555a→g-positive mutation-positive high-throughput last-cycle cloning
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

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A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

lens family genomic clinical family pcr
Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

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Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

buccal subject ttge real-time pcr-based
INI1 mutations in meningiomas at a potential hotspot in exon 9.

PMID 11161377 · PMC2363707 · British journal of cancer · 2001 · 6 claims · 5 setups

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A recurrent somatic INI1 mutation (G1130A, Arg377His) occurs at a hotspot in exon 9 in a subset of meningiomas.

meningioma re-extracted sscp direct pcr
Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.

PMID 17299390 · PMC2360060 · British journal of cancer · 2007 · 8 claims · 6 setups

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DDR1 is significantly upregulated in NSCLC tumour tissue compared with matched normal lung tissue

nsclc matched lung quantitative pcr genomic
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
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups

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Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels

renal dhplc direct pcr-restriction
Correlation of mutation and immunohistochemistry of p53 in hepatocellular carcinomas in Korean people.

PMID 12483005 · PMC3054961 · Journal of Korean medical science · 2002 · 6 claims · 3 setups

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5% immunoreactive tumor cells is a reliable IHC threshold to detect p53 mutations in HCC

hcc genomic pcr immunohistochemistry pcr-sscp sequencing
Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.

PMID 9484816 · PMC2149930 · British journal of cancer · 1998 · 6 claims · 5 setups

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DCC protein expression is lost in the majority of colorectal tumours while retained in all normal colonic tissue

matched cryosections genomic pcr-rflp rt-pcr northern
Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer.

PMID 18842121 · PMC2571110 · BMC cancer · 2008 · 8 claims · 2 setups

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Somatic mutations in the mtDNA D-loop are found in 57% of ovarian cancer samples, mostly C-tract length changes and substitutions

ovarian sanger real-time
Alterations of E-cadherin and beta-catenin in gastric cancer.

PMID 11747475 · PMC60969 · BMC cancer · 2001 · 8 claims · 5 setups

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High frequency (75%) of loss of heterozygosity (LOH) at 16q22.1, the E-cadherin locus, occurs in primary gastric tumours

gastric normal paraffin-embedded loh mutation a592t
p53 tumor suppressor gene mutations in fibroblast-like synoviocytes from erosion synovium and non-erosion synovium in rheumatoid arthritis.

PMID 15642132 · PMC1064878 · Arthritis research & therapy · 2005 · 8 claims · 4 setups

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p53 mutation frequency and type do not differ significantly between erosion and non-erosion FLS

fibroblast-like matched snap-frozen p53 elisa pcr
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups

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Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)

genomic somali sri ethnically dhplc snp sanger
Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

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The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional
Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups

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A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma

ovarian case matched same pcr-sscp subcloning loh
Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.

PMID 10543255 · PMC5926140 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups

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Mutation of the hsMAD2 gene was not observed in any of the 32 sporadic digestive tract cancers examined.

sporadic same tumor hsmad2 rt-pcr-sscp dnase direct
Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.

PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups

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Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.

sporadic msi-positive tumour unstable microsatellite denaturing sequencing
BCoR-L1 variation and breast cancer.

PMID 17697391 · PMC2206730 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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BCoR-L1 expression does not play a large role in predisposition to familial breast cancer

genomic aberrant lymphoblastoid mouse-human dhplc sanger qrt-pcr
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

at-risk eyes blood bbs7 clinical ophthalmologic genetic
A missense mutation in LIM2 causes autosomal recessive congenital cataract.

PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups

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A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family

genomic mp19 patients pcr sscp cosegregation

Experiments

Pathogenic mitochondrial DNA mutations are common in the general population.

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

INI1 mutations in meningiomas at a potential hotspot in exon 9.

Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.

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

Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

Correlation of mutation and immunohistochemistry of p53 in hepatocellular carcinomas in Korean people.

Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.

Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer.

Alterations of E-cadherin and beta-catenin in gastric cancer.

p53 tumor suppressor gene mutations in fibroblast-like synoviocytes from erosion synovium and non-erosion synovium in rheumatoid arthritis.

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

Mutational inactivation of mitotic checkpoint genes, hsMAD2 and hBUB1, is rare in sporadic digestive tract cancers.

Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.

BCoR-L1 variation and breast cancer.

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

A missense mutation in LIM2 causes autosomal recessive congenital cataract.