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 93

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

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

PMID 19112531 · PMC2610290 · Molecular vision · 2008 · 8 claims · 4 setups

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A novel STRA6 missense variant (p.G217E, exon 8) and a novel STRA6 nonsense variant (p.Q592X, exon 18) were identified in one A/M subject and absent from 89 controls, implicating STRA6 in this subject's A/M phenotype.

genomic stra6 direct variant
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups

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OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.

genomic ghanaian pcr taqman logistic
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

peripheral g2385r patients genotype pcr full clinical
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

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A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

genomic same chx10 pacg pcr case-control cross-species
Genetic variation of SARS coronavirus in Beijing Hospital.

PMID 15200810 · PMC3323231 · Emerging infectious diseases · 2004 · 8 claims · 4 setups

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113 sequence variations at 9 recurrent variant sites were identified in 29 full-length S-gene sequences compared to the BJ01 reference strain

clinical extracted rna-derived cloned nested screening direct
A common missense variant in BRCA2 predisposes to early onset breast cancer.

PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups

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BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.

peripheral blood-derived blood case-control genotyping sequencing mutation
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups

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A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3

pakistani affected unrelated one microsatellite sanger mutation
Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

PMID 17728513 · PMC2693823 · Journal of Korean medical science · 2007 · 7 claims · 6 setups

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EDS type IV is genetically heterogeneous; not all clinically/biochemically diagnosed patients carry COL3A1 mutations

genomic peripheral abdominal cerebral direct genomic angiography
Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.

PMID 18842124 · PMC2569949 · BMC genomics · 2008 · 7 claims · 7 setups

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GS-FLX pyrosequencing of pooled amplicons detects sequence variants with high specificity (99.95%) and no false negatives at ≥30× coverage

pools pcr genomic gs-flx massively sanger pcr
PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

blood finnish combined formalin-fixed direct additional statistical
Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.

PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups

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No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)

t1d european warren resequencing database tag
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups

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Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.

spanish rp5 population candidate direct comparative pcr
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

PMID 18334946 · PMC2255026 · Molecular vision · 2008 · 8 claims · 4 setups

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A novel heterozygous c.134G→C change in GJA8, causing p.W45S, was identified as the disease-associated mutation in the affected family

genomic patients ethnically connexin50 bidirectional clinical sanger
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
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
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 18834967 · PMC2561938 · American journal of human genetics · 2008 · 7 claims · 6 setups

Has reproduction · 70

Heterozygous CHD7 mutations cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome without the CHARGE phenotype.

ihh additional chd7 sanger targeted rt-pcr
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups

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Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P

family additional unrelated mutant direct linkage targeted
Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups

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None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)

genomic case-control nramp1 type sanger snp microsatellite
A novel mutation in the SH3BP2 gene causes cherubism: case report.

PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups

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A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.

genomic proband patients jaw direct pcr computed
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

Experiments

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

Genetic variation of SARS coronavirus in Beijing Hospital.

A common missense variant in BRCA2 predisposes to early onset breast cancer.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.

Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

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

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

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

A novel mutation in the SH3BP2 gene causes cherubism: case report.

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.