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).

• CNGA3 mutations in two United Arab Emirates families with achromatopsia.

  PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups

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  Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val

  achromatopsia genomic hek293 clinical pcr segregation

• Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

  PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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  A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

  family genomic clinical microsatellite direct

• 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 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

• 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

  Full-text index only

  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

• 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

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  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

• PAX6 gene variations associated with aniridia in south India.

  PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

  Full-text index only

  Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

  genomic pcr aniridia sscp automated allele-specific

• Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

  PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

  Full-text index only

  Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

  genomic available leukocytes affected linkage pcr single

• 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

• 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 mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

  PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

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  A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

  lens family genomic clinical family pcr

• Crystallin gene mutations in Indian families with inherited pediatric cataract.

  PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups

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  Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population

  genomic pcr affected pediatric single direct restriction

• The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.

  PMID 19784393 · PMC2751802 · Molecular vision · 2009 · 6 claims · 4 setups

  Full-text index only

  A novel MYOC missense mutation, Y371D (1111t→g), causes an aggressive, autosomal dominant form of JOAG in this family.

  genomic caucasian patients blood direct mutation clinical

• 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

• Alstrom syndrome (OMIM 203800): a case report and literature review.

  PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups

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  The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome

  genomic healthy proband pcr pcr-rflp plasma

• A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

  PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups

  Full-text index only

  A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.

  genomic patients connexin bidirectional restriction clinical

• A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

  PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

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  A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

  patients family genomic clinical microsatellite two-point

• Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.

  PMID 18660851 · PMC2483297 · Molecular vision · 2008 · 8 claims · 6 setups

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  The four affected siblings are compound heterozygotes for two novel WFS1 mutations, one from each parent, causing Wolfram syndrome.

  genomic affected microsatellite pcr allele-specific

• ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

  PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

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  37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

  genomic identified sacs-mutation-positive alleles pcr clinical brain