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).

• Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

  PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

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  R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

  polarized mdck mdck-cftr patients confocal surface western

• Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

  PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups

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  Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families

  genomic family ethnically affected genotyping two-point sanger

• Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

  PMID 18834967 · PMC2561938 · American journal of human genetics · 2008 · 7 claims · 6 setups

  Has reproduction · 70

  Heterozygous CHD7 mutations cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome without the CHARGE phenotype.

  ihh additional chd7 sanger targeted rt-pcr

• 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

• Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

  PMID 41124077 · PMC12795473 · Cell reports · 2025 · 6 claims · 5 setups

  Has reproduction · 92

  Non-DNA-contacting residues, especially in the loop between helices 2 and 3 and in wing 2, control mono- vs. bispecificity of FH domains for the FKH and FHL motifs

  reference chimeric foxn3 foxk1 universal pbm chip-seq

• Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

  PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups

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  FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings

  armd dutch fibulin pef6-ssflag mutation computational site-directed

• Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.

  PMID 19112531 · PMC2610290 · Molecular vision · 2008 · 8 claims · 4 setups

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  A novel STRA6 missense variant (p.G217E, exon 8) and a novel STRA6 nonsense variant (p.Q592X, exon 18) were identified in one A/M subject and absent from 89 controls, implicating STRA6 in this subject's A/M phenotype.

  genomic stra6 direct variant

• 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

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  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

• Pleiotropic effects of MORC2 derive from its epigenetic signature.

  PMID 40302207 · PMC12782172 · Brain : a journal of neurology · 2026 · 8 claims · 8 setups

  Has reproduction

  A MORC2-specific DNA methylation episignature exists that is universal across all MORC2-associated phenotypes and conserved across blood and fibroblast tissue

  blood fibroblasts fibroblast patient-derived methylation svm phenotype-specific

• Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

  PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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  Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

  genomic taiwanese dhplc pcr sanger

• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

  PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

  genomic pcr polycystin-1 czech denaturing sanger family

• Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

  PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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  Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

  genomic hela itgb1bp2 melusin direct minigene in-silico

• Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

  PMID 18470323 · PMC2373796 · Molecular vision · 2008 · 7 claims · 4 setups

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  The R124C mutation (C417T) in exon 4 of TGFBI cosegregates with lattice corneal dystrophy type I in this Chilean family

  members same genomic clinical stereopsis sanger

• Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

  PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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  The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

  genomic pcr-amplified case-control pon1 single-strand direct genetic

• Adapting to a changing world: RAG genomics and evolution.

  PMID 16004728 · PMC3525258 · Human genomics · 2005 · 8 claims · 7 setups

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  RAG-1/RAG-2 origin is a foundational hallmark of adaptive immunity, enabling V(D)J recombination of antigen receptor genes.

  rag-1 patients zebrafish vertebrate comparative site-directed clinical