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 75

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

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
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

family genomic unrelated gja8 clinical microsatellite sequencing
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups

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A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls

family k4425 embryonic scn9a-n641y linkage copy deletion
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups

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A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.

genomic patients pcr clinical genomic
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

PMID 18688868 · PMC2586182 · American journal of medical genetics. Part A · 2008 · 8 claims · 5 setups

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A novel missense mutation c.2576G→A (p.R859Q) in WFS1 exon 8 causes autosomal dominant LFSNHL in this American family

genomic wfs1 ceph affected pcr sanger population
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

family genomic clinical microsatellite direct
Population diversity and antibody selective pressure to Plasmodium falciparum MSP1 block2 locus in an African malaria-endemic setting.

PMID 19832989 · PMC2770483 · BMC microbiology · 2009 · 8 claims · 5 setups

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The relative proportion of the three Pfmsp1 block2 allelic families (K1, Mad20, RO33) in Dielmo showed no significant temporal fluctuation over a 10-year period (1990-99).

plasmodium dielmo semi-nested direct cross-sectional
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups

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A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred

genomic tsa201 unspecified proband sequence modified full-length
Genetic variation in an individual human exome.

PMID 18704161 · PMC2493042 · PLoS genetics · 2008 · 8 claims · 7 setups

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The ~12,500 nonsilent coding variants in the HuRef exome can be reduced ~8-fold to a set of ~1,600 variants most likely to affect protein function.

huref genes subset whole-genome allele functional
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
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

PMID 19901218 · PMC3514888 · Archives of ophthalmology (Chicago, Ill. : 1960) · 2009 · 8 claims · 4 setups

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No COL2A1 mutations were found, making ocular Stickler syndrome an unlikely diagnosis for this family

genomic family complete pcr clinical
Mutation patterns of mtDNA: empirical inferences for the coding region.

PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

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Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

extended-family same direct electropherogram molecular
More breast cancer genes?

PMID 11305950 · PMC138680 · Breast cancer research : BCR · 2001 · 8 claims · 7 setups

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A new high-risk breast cancer gene termed BRCAX may exist on chromosome 13q, identified via CGH and linkage analysis in Nordic families

tumours five independent ataxia-telangiectasia comparative haplotype linkage
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
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups

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The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541

four-generation bfsp2 wild-type microsatellite direct denaturing
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

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A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

four-generation genomic crygd wild-type genotyping direct denaturing
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

PMID 19753316 · PMC2742643 · Molecular vision · 2009 · 8 claims · 6 setups

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A novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1 causes disease in family RP19

affected family rp19 selected genome-wide microsatellite direct
Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

PMID 19737971 · PMC2994259 · Molecular cancer research : MCR · 2009 · 8 claims · 8 setups

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CLSPN is a mediator protein essential for the ATR- and CHK1-dependent checkpoint response to replicative stress or single-stranded DNA

ebv-immortalized sporadic same caucasian genomic denaturing genotyping
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
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

Experiments

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

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

Population diversity and antibody selective pressure to Plasmodium falciparum MSP1 block2 locus in an African malaria-endemic setting.

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

Genetic variation in an individual human exome.

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

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Mutation patterns of mtDNA: empirical inferences for the coding region.

More breast cancer genes?

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

A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Prevalence and functional analysis of sequence variants in the ATR checkpoint mediator Claspin.

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

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