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 41

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

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
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

PMID 18618005 · PMC2447816 · Molecular vision · 2008 · 6 claims · 4 setups

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A heterozygous c.327C>A transversion in exon 3 of CRYGC causes a nonsense mutation (C109X) that cosegregates with autosomal dominant congenital nuclear cataract in a Chinese family.

genomic type family γc-crystallin pcr comparative clinical
A missense mutation in LIM2 causes autosomal recessive congenital cataract.

PMID 18596884 · PMC2442473 · Molecular vision · 2008 · 7 claims · 5 setups

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A homozygous missense mutation (Gly154Glu, c.587G>A) in LIM2 causes autosomal recessive congenital cataract in a human family

genomic mp19 patients pcr sscp cosegregation
Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

PMID 16277682 · PMC1297578 · Arthritis research & therapy · 2005 · 6 claims · 4 setups

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The M404V mutation in p62/SQSTM1 exon 8 segregates with the polyostotic form of PDB in the F01 Italian family

genomic serum affected pcr pcr biochemical clinical
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

PMID 15716625 · PMC2808567 · Journal of Korean medical science · 2005 · 8 claims · 6 setups

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A 13-year-old boy and five affected relatives across three generations with hypokalemic periodic paralysis carry the R1239G mutation in CACNA1S

proband cousins mutation serum electrocardiography
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups

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A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.

genomic pcr-amplified computational pcr restriction pcr-rflp
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

PMID 19052653 · PMC2592999 · Molecular vision · 2008 · 7 claims · 4 setups

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PITX2 is considered the major causative gene for full-spectrum Axenfeld-Rieger syndrome.

genomic healthy peripheral affected pcr genomic full
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 TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups

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A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.

genomic excised left pcr pcr-restriction histopathology
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
Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups

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CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.

amish unrelated same overall microsatellite combinatorial permutation
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

affected short pcr perchlorate
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups

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A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.

patients genomic slit pcr
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

peripheral genomic convalescent cdna genomic breakpoint-spanning
Additional EFNB1 mutations in craniofrontonasal syndrome.

PMID 18627045 · PMC2774847 · American journal of medical genetics. Part A · 2008 · 8 claims · 4 setups

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Loss-of-function mutations in EFNB1 (Xq13.1) are the cause of CFNS in the majority of patients

lymphoblastoid cfns patients additional pcr multiplex molecular
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
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
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

PMID 18636123 · PMC2467519 · Molecular vision · 2008 · 6 claims · 2 setups

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A heterozygous c.1915G>A mutation in exon 14 of TGFBI (p.G623D) causes an atypical form of RBCD in this Chinese family, distinct from previously reported phenotypes for the same mutation.

genomic family pcr clinical
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

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SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

germline genomic identified individuals sequencing pcr mlpa
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

PMID 17615541 · PMC2768756 · Molecular vision · 2007 · 8 claims · 4 setups

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Eleven different RS1 mutations were identified in 12 Chinese XLRS families, including four novel mutations (26delT, 488delG, Asp145His, Arg156Gly).

patients genomic xlrs eyes comprehensive pcr single-flash

Experiments

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

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

A missense mutation in LIM2 causes autosomal recessive congenital cataract.

Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

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

A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

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

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Additional EFNB1 mutations in craniofrontonasal syndrome.

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

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

An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.