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 196

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

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

Full-text index only

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
B lymphocyte involvement in ankylosing spondylitis: the heavy chain variable segment gene repertoire of B lymphocytes from germinal center-like foci in the synovial membrane indicates antigen selection.

PMID 11299060 · PMC30712 · Arthritis research · 2001 · 8 claims · 4 setups

Full-text index only

70 rearranged heavy chain VH genes from AS synovial membrane were characterized; 59 were potentially functional

frozen lymphocytes microdissected pcr double microdissection semi-nested
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups

Full-text index only

A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01

family genomic pcr genetic direct allele-specific
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

Full-text index only

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
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

Full-text index only

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 GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups

Full-text index only

A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.

genomic patients high recombinant pcr full-field paired-flash
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

Full-text index only

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
Novel mutations in GJA1 cause oculodentodigital syndrome.

PMID 18946008 · PMC2588666 · Journal of dental research · 2008 · 8 claims · 3 setups

Full-text index only

Heterozygous missense mutations in GJA1 were found in all analyzed ODD-affected individuals across ten unrelated families

odd wild-type pups pcr immunofluorescence
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

Full-text index only

A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr 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

Full-text index only

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
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups

Full-text index only

A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.

genomic proband pcr pcr-rflp bone
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

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

Full-text index only

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

genomic healthy peripheral affected pcr genomic full
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups

Full-text index only

Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree

genomic family myoc pcr-rflp sequencing clinical
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

Full-text index only

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

Full-text index only

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

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

Full-text index only

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
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

Full-text index only

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
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

Full-text index only

A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

genomic basotho pcr restriction secondary
IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.

PMID 11056671 · PMC17813 · Arthritis research · 2000 · 8 claims · 5 setups

Full-text index only

Somatically mutated IgVH genes with amino acid deletions and mixed IgV molecules were found in all three anatomical regions, suggesting a novel pathway for generating (auto)antibody specificities

synovial same cryosections formalin-fixed cdna seminested double
Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups

Full-text index only

Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened

genomic pcr pcr-single-strand cloning pcr-sscp

Experiments

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

B lymphocyte involvement in ankylosing spondylitis: the heavy chain variable segment gene repertoire of B lymphocytes from germinal center-like foci in the synovial membrane indicates antigen selection.

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

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

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

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

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

Novel mutations in GJA1 cause oculodentodigital syndrome.

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

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

A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

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

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

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.

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

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

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.

Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.