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 65

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

Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

PMID 16222317 · PMC2361617 · British journal of cancer · 2005 · 6 claims · 3 setups

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Breast cancer risk is strongly and significantly elevated specifically among mothers of AT patients (SIR=7.14), consistent with Olsen et al's finding (SIR=6.7)

blood same retrospective atm weighted
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

PMID 19674475 · PMC2736932 · BMC medical genetics · 2009 · 7 claims · 3 setups

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A Pakistani consanguineous family with three pycnodysostosis-affected individuals shows genetic linkage to the CTSK locus on chromosome 1q21

pakistani genomic microsatellite pcr acii
KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

PMID 18797286 · PMC2743278 · Current opinion in otolaryngology & head and neck surgery · 2008 · 8 claims · 8 setups

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KCNQ4 mutations at the DFNA2 locus on chromosome 1p34 cause autosomal dominant nonsyndromic progressive sensorineural hearing loss

seven-generation dfna2 xenopus kcnq4 linkage mutation heterologous
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
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups

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Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families

peripheral genomic six individuals sequencing pcr microsatellite
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

PMID 18752264 · PMC2577713 · Human mutation · 2008 · 8 claims · 4 setups

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40% (16/40) of WWS families in this diverse cohort received a molecular diagnosis with mutations in POMT1, POMT2, FKRP or FCMD

genomic pomt2 population genome-wide pcr multiplex
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups

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Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)

family p2ry5 affected snp microsatellite sanger
Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

PMID 18541010 · PMC2435117 · Molecular cancer · 2008 · 8 claims · 5 setups

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The CTNNB1 stabilizing mutation S37A was detected in 6 of 104 (5.8%) sporadic parathyroid adenomas by direct DNA sequencing.

sporadic ctnnb1 paired frozen direct restriction snp
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups

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A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family

affected family blood frmd7 microsatellite direct denaturing
PRLTS gene alterations in human prostate cancer.

PMID 9197531 · PMC5921422 · Japanese journal of cancer research : Gann · 1997 · 5 claims · 3 setups

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LOH at the PRLTS gene locus is a relatively common abnormality in prostate cancer

tumor metastatic loh pcr-sscp sequencing
NK2R control of energy expenditure and feeding to treat metabolic diseases.

PMID 39537932 · PMC11602716 · Nature · 2024 · 8 claims · 8 setups

Has reproduction · 87

NK2R activation is sufficient to suppress appetite centrally and increase energy expenditure peripherally

european-ancestry brain nk2r greenlandic gwas transcriptome-wide receptor
Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups

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hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)

peripheral tumor sscp somatic loss
Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers.

PMID 9818024 · PMC5921952 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 4 setups

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RER+ phenotype (microsatellite instability at ≥2 of 7 loci) occurs in a subset (21-23%) of sporadic endometrioid endometrial adenocarcinomas but not in other histological types or endometrial hyperplasia

paired tumor hematoxylin-eosin-stained pcr sequencing histopathological
Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups

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Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription

gej paired showing tumours tcf pcr-sscp bidirectional
Lineage specific recombination rates and microevolution in Listeria monocytogenes.

PMID 18842152 · PMC2576243 · BMC evolutionary biology · 2008 · 8 claims · 6 setups

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Recombination is more prevalent in lineage II than in lineage I

listeria allelic unique monocytogenes multilocus sawyer's genealogical
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

genomic family carrier jarid1c dhplc allele-specific restriction
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
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups

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A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.

family patients peripheral-blood peripheral snp microsatellite sanger
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.

PMID 19760750 · PMC2784016 · Human mutation · 2009 · 8 claims · 6 setups

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Two-round fast COLD-PCR followed by Sanger sequencing detects TP53 mutations at abundances as low as ~1%, below the sensitivity of conventional Sanger sequencing (~20-25%)

lung wild-type matched paired two-round real-time airs-rflp
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

Experiments

Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

BCoR-L1 variation and breast cancer.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients.

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

PRLTS gene alterations in human prostate cancer.

NK2R control of energy expenditure and feeding to treat metabolic diseases.

Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers.

Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

Lineage specific recombination rates and microevolution in Listeria monocytogenes.

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.

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