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 32

System / cell line: variant ✕ Assay: restriction ✕ Clear

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

genomic pcr-amplified reep1 pcr dhplc direct
The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.

PMID 17615072 · PMC2206364 · Arthritis research & therapy · 2007 · 8 claims · 2 setups

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The ITGAV rs3738919-C allele is significantly associated with rheumatoid arthritis in European Caucasian trio families

genomic same pcr-restriction affected
ddRAD-seq reveals the genetic structure and detects signals of selection in Italian brown trout.

PMID 35100964 · PMC8805291 · Genetics, selection, evolution : GSE · 2022 · 7 claims · 8 setups

Has reproduction · 87

Italian brown trout populations are genetically differentiated but show strong admixture introduced by stocking, especially with the Atlantic lineage.

salmo brown subset five ddrad-seq read population
Human genomic variation.

PMID 11178257 · PMC138878 · Genome biology · 2000 · 8 claims · 7 setups

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Lewontin's 1972 analysis of 17 blood-group/protein loci found 85% of human genetic variation lies within individuals of a nation/tribe, 8% between populations within races, and only 6% between races

populations individuals composite genome blood-group marker mitochondrial
Zinc finger nucleases: custom-designed molecular scissors for genome engineering of plant and mammalian cells.

PMID 16251401 · PMC1270952 · Nucleic acids research · 2005 · 8 claims · 8 setups

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ZFNs combining the FokI nuclease domain with custom zinc finger proteins can deliver site-specific double-strand breaks to plant and mammalian genomes.

foki zif268-derived coli zfns limited foot-printing x-ray
Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.

PMID 9823980 · PMC2063181 · British journal of cancer · 1998 · 7 claims · 5 setups

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CYP2D6, CYP3A, and an N-acetyltransferase enzyme activity are functionally expressed in human prostate tissue

peripheral prostate genomic allele-specific enzymatic determination
Public health genomics: translating obesity genomics research into population health benefits.

PMID 19037221 · PMC2736102 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 6 setups

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Obesity genomics research is mostly in the discovery phase (T1); a four-phase translational framework (T1-T4) is needed to move discoveries to population health impact

populations white mice humans genetic pharmacogenetic gene-by-environment
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups

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Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.

genomic unrelated bmp4 sanger restriction heteroduplex-single
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups

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Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)

genomic radiolabelled tig-er u2os sscp protein-protein retroviral
Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.

PMID 11308254 · PMC2363853 · British journal of cancer · 2001 · 8 claims · 6 setups

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E2 gene disruption in the analysed regions is significantly more frequent in high-grade SILs than low-grade SILs

paraffin-embedded hpv16-positive representative cervical pcr restriction bidirectional
Mutation analysis of the MDM4 gene in German breast cancer patients.

PMID 18279506 · PMC2259322 · BMC cancer · 2008 · 8 claims · 8 setups

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Resequencing of the whole MDM4 coding region in 40 German familial breast cancer patients uncovered two coding variants (V74V and D153G) in 4/40 patients

german bilateral mdm4 lymphoid direct rflp-based splice
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups

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The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer

breast tumour sscp exon-by-exon southern
Low frequency of E-cadherin alterations in familial breast cancer.

PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups

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No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus

blood same tumour pcr-sscp denaturing somatic
A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.

PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups

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A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing

blood variant patients same sscp sanger pcr-rflp
Crystallin gene mutations in Indian families with inherited pediatric cataract.

PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups

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Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population

genomic pcr affected pediatric single direct restriction
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

PMID 18237401 · PMC2276215 · Lipids in health and disease · 2008 · 8 claims · 4 setups

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Two distinct heterozygous frameshift mutations in CAV1 (I134fsdelA-X137 and -88delC) were identified in patients with atypical partial lipodystrophy and severe hypertriglyceridemia

genomic sequence restriction allele-specific
Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

genomic unaffected pcr targeted restriction
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups

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I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients

genomic pcr unselected i1307k mutation sequencing clinical
Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters.

PMID 12237774 · PMC2364248 · British journal of cancer · 2002 · 8 claims · 8 setups

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RhoA, RhoB, Rac1 and Cdc42 protein levels are markedly overexpressed in breast tumours compared to matched normal tissue from the same patient

breast western c3-mediated 32p-gtp
High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.

PMID 16086836 · PMC1190179 · BMC medical genetics · 2005 · 8 claims · 6 setups

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IVS2-2A>G allele frequency does not differ significantly between hearing-impaired cases and controls among Hispanics and Caucasians (p=0.45)

genomic mitochondrial slc26a5 pcr sequence splice

Experiments

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.

ddRAD-seq reveals the genetic structure and detects signals of selection in Italian brown trout.

Human genomic variation.

Zinc finger nucleases: custom-designed molecular scissors for genome engineering of plant and mammalian cells.

Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.

Public health genomics: translating obesity genomics research into population health benefits.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.

Mutation analysis of the MDM4 gene in German breast cancer patients.

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

Low frequency of E-cadherin alterations in familial breast cancer.

A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters.

High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.