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 51

System / cell line: families ✕ Assay: disease ✕ Clear

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
Willing to do the math: an interview with David Botstein. Interview by Jane Gitschier.

PMID 16733551 · PMC1464829 · PLoS genetics · 2006 · 8 claims · 5 setups

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Highly polymorphic, multiallelic DNA markers spaced across the genome could be used to build a complete human genetic linkage map

families bacteria genome family genetic transposon
Systems genetics of alcoholism.

PMID 23584748 · PMC3860445 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 8 setups

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Alcoholism is a multifactorial disease driven by interacting genetic, social, and environmental factors, with genetics accounting for 50-60% of risk.

families drosophila mice han linkage metabolic gene
Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups

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Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation

blood-derived hemangioblastoma single-strand direct sscp
Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

PMID 11381192 · PMC3851408 · Disease markers · 2000 · 6 claims · 5 setups

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Multiplex PCR screening of 18 dystrophin exons detected deletions in 55% of 100 Egyptian DMD/BMD families

genomic egyptian same peripheral multiplex clinical electromyography
Utah's Family High Risk Program: bridging the gap between genomics and public health.

PMID 15888235 · PMC1327718 · Preventing chronic disease · 2005 · 8 claims · 6 setups

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Collection of family history through the Family High Risk Program (FHRP) is a cost-effective method for identifying and intervening with high-risk populations for chronic disease

high high-risk fhrp health family-based satisfaction
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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LQTS-associated mutations were identified in 8 of 112 families studied

large lqts family mutation linkage direct single-strand
The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

PMID 15665388 · PMC3839324 · Disease markers · 2004 · 6 claims · 3 setups

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The MMP-3 -1612 5A/6A polymorphism is not associated with ischaemic heart disease in an Irish population.

peripheral family extended pcr-rflp combined pedigree
Testing groups of genomic locations for enrichment in disease loci using linkage scan data: a method for hypothesis testing.

PMID 16848972 · PMC3525155 · Human genomics · 2006 · 8 claims · 2 setups

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A method testing enrichment of a group of genomic locations for disease loci by comparing the average NPL score of the group to a null distribution from randomly drawn groups of equal size

simulated pedigrees simulated real
Isolated populations and complex disease gene identification.

PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups

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Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.

genetically icelandic finnish hutterites linkage genome-wide
A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups

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A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.

genomic patients connexin bidirectional restriction clinical
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups

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Mutations in GLE1, an mRNA export mediator, cause LCCS1

lccs1 laahd finnish healthy genomic microsatellite carrier
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups

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The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.

blood-derived individuals patients excised genomic structured tumor
Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action.

PMID 15888216 · PMC1327699 · Preventing chronic disease · 2005 · 8 claims · 6 setups

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Family history is the most consistent risk factor for almost all human diseases across the lifespan.

adults care utah epidemiologic national observational population-based
Metatranscriptomics of the human oral microbiome during health and disease.

PMID 24692635 · PMC3977359 · mBio · 2014 · 8 claims · 8 setups

Has reproduction · 62

Disease-associated periodontal communities display conserved community-level metabolic gene expression profiles between patients, whereas the metabolic gene expression of individual species is highly variable between patients.

patient-matched subset health rna-seq rrna comparison metatranscriptomics
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
Analysis of human sarcospan as a candidate gene for CFEOM1.

PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups

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Sarcospan sequence is unmutated in all six CFEOM1 families studied

yac genomic extraocular genome pcr direct immunofluorescence
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

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COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence
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
The molecular landscape of ASPM mutations in primary microcephaly.

PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

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ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family

Experiments

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

Willing to do the math: an interview with David Botstein. Interview by Jane Gitschier.

Systems genetics of alcoholism.

Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.

Utah's Family High Risk Program: bridging the gap between genomics and public health.

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

Testing groups of genomic locations for enrichment in disease loci using linkage scan data: a method for hypothesis testing.

Isolated populations and complex disease gene identification.

A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action.

Metatranscriptomics of the human oral microbiome during health and disease.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Analysis of human sarcospan as a candidate gene for CFEOM1.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

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

The molecular landscape of ASPM mutations in primary microcephaly.