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 11

System / cell line: affected ✕ Assay: residue ✕ Clear

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
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups

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A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)

family genomic 10-member wfs1 pure direct pcr-rflp
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups

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A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.

patients genomic family cerkl ophthalmic homozygosity multipoint
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
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 I522N within the TGFBI gene caused lattice corneal dystrophy I.

PMID 19956413 · PMC2786890 · Molecular vision · 2009 · 7 claims · 4 setups

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A novel missense mutation (1565T→A) in exon 12 of TGFBI, causing an I522N amino acid substitution, causes lattice corneal dystrophy type I in the studied Chinese family.

genomic patients affected tgfbi pcr clinical visual
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
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
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.

three-generation genomic crybb1 family genotyping direct restriction
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
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups

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Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis

lysosomal full-length pro-peptide bovine homology sequence weblogo

Experiments

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

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

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

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

A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.

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

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

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

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

A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.