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 168

System / cell line: affected ✕ Clear

The molecular landscape of ASPM mutations in primary microcephaly.

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

Full-text index only

ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.

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

Full-text index only

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

four-generation bfsp2 wild-type microsatellite direct denaturing
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups

Full-text index only

A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).

eyes blood-derived ebna xlrs optical genetic transfection
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups

Full-text index only

PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).

genomic retina cdna protocadherin str pcr rt-pcr
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

Full-text index only

TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

families affected tmc1 tjp2 genetic sequencing multiplex
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups

Full-text index only

A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.

genomic tulp1 y79 haplotype direct mismatch-primer
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

PMID 18431453 · PMC2324116 · Molecular vision · 2008 · 7 claims · 5 setups

Full-text index only

Five novel FRMD7 mutations were identified in five of seven Chinese families with X-linked infantile nystagmus.

genomic affected patients linkage direct snp
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

PMID 20037587 · PMC3786192 · Nature genetics · 2010 · 8 claims · 6 setups

Full-text index only

SPSMA and CMT2C are allelic disorders caused by mutations in TRPV4

spsma spsma-affected hek293 candidate histopathology confocal
Multiple epiphyseal dysplasia.

PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups

Full-text index only

An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members

family patients microsatellite sequencing clinical
Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

Full-text index only

The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional
Examination of tetrahydrobiopterin pathway genes in autism.

PMID 19674121 · PMC2784255 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

Full-text index only

PTS (6-pyruvoyl-tetrahydropterin synthase) shows significant nominal association with autism (p=0.009), not restricted to affected-male-only subset

non-hispanic subset trios case snp two-point pedigree
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups

Has reproduction · 87

Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals

genomes genematcher affected 293t genetic exome phenotype
Genomic analysis of bacteria in the Acute Oak Decline pathobiome.

PMID 30625111 · PMC6412055 · Microbial genomics · 2019 · 7 claims · 7 setups

Has reproduction · 100

All studied members of the AOD lesion microbiota possess virulence genes associated with phytopathogens

gibbsiella lonsdalea brenneria miseq genome novo comparative
BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.

PMID 9155062 · PMC2228233 · British journal of cancer · 1997 · 6 claims · 4 setups

Full-text index only

A restriction site-generating PCR (RG-PCR) assay was developed to detect the BRCA1 5382insC mutation.

tumour breast bc185 rg-pcr single-strand fluorescent
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups

Full-text index only

Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)

genomic radiolabelled tig-er u2os sscp protein-protein retroviral
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

PMID 12483017 · PMC3054970 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

Full-text index only

A missense mutation (Arg1448Cys, R1448C) in SCN4A causes paramyotonia congenita in this Korean family

skeletal abductor genomic proband needle short muscle
CHEK2 variants associate with hereditary prostate cancer.

PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups

Full-text index only

CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls

index hpc unselected affected sscp sequencing minisequencing
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

PMID 15743497 · PMC1064126 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

Full-text index only

The AR CAG repeat polymorphism does not modify breast cancer risk in BRCA1 mutation carriers

peripheral brca1 same simulated fluorescent cox weighted
Variants in the vitamin D receptor gene and asthma.

PMID 15651992 · PMC546000 · BMC genetics · 2005 · 8 claims · 6 setups

Full-text index only

VDR gene variants are candidate risk factors for asthma/allergy because vitamin D effects are mediated through the VDR and VDR maps to the 12q asthma linkage region

individuals children parents transmission bronchial pulmonary
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups

Full-text index only

A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.

blood serum younger brothers mutational hormone 24-hour

Experiments

The molecular landscape of ASPM mutations in primary microcephaly.

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

Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Multiple epiphyseal dysplasia.

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Examination of tetrahydrobiopterin pathway genes in autism.

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Genomic analysis of bacteria in the Acute Oak Decline pathobiome.

BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.

CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

CHEK2 variants associate with hereditary prostate cancer.

The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Variants in the vitamin D receptor gene and asthma.

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.