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 52

System / cell line: mutations ✕ Assay: chromosome ✕ Clear

Evolutionary repair: Changes in multiple functional modules allow meiotic cohesin to support mitosis.

PMID 32155147 · PMC7138332 · PLoS biology · 2020 · 8 claims · 8 setups

Has reproduction · 90

Replacing the mitotic kleisin Scc1 with the meiotic kleisin Rec8 impairs sister chromosome cohesion, advances genome replication timing, and reduces reproductive fitness by 45%.

cerevisiae parallel evolved rec8-expressing competitive experimental whole-genome
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 the formin gene INF2 cause focal segmental glomerulosclerosis.

PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

Full-text index only

Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

families genes individuals kidney genome-wide sanger resequencing
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

PMID 17704778 · PMC2872770 · Nature genetics · 2007 · 8 claims · 6 setups

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Mutations in UPF3B cause syndromic (Lujan-Fryns syndrome, FG syndrome) and nonsyndromic X-linked mental retardation

probands lymphoblastoid lcls tissues gene quantitative cycloheximide
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups

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A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice

enu-mutagenized jna cell-free hippocampus locomotor qtl gtp-binding
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.

PMID 19716302 · PMC2748900 · Current biology : CB · 2009 · 7 claims · 4 setups

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Direct sequencing of a 13-generation pedigree yields a Y-chromosome mutation rate of 3.0 × 10^-8 mutations/nucleotide/generation

flow-sorted cell-line family lymphoblastoid y-chromosome capillary y-str
KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

PMID 18797286 · PMC2743278 · Current opinion in otolaryngology & head and neck surgery · 2008 · 8 claims · 8 setups

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KCNQ4 mutations at the DFNA2 locus on chromosome 1p34 cause autosomal dominant nonsyndromic progressive sensorineural hearing loss

seven-generation dfna2 xenopus kcnq4 linkage mutation heterologous
Infrequent mutation of the H-cadherin gene on chromosome 16q24 in human breast cancers.

PMID 9330599 · PMC5921496 · Japanese journal of cancer research : Gann · 1997 · 4 claims · 2 setups

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Mutation of the H-cadherin gene is very infrequent in primary breast cancers with 16q loss

pcr-single sequencing
Candidate target genes for loss of heterozygosity on human chromosome 17q21.

PMID 15187990 · PMC2409524 · British journal of cancer · 2004 · 8 claims · 5 setups

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JUP (plakoglobin) is the only identified gene physically located between the D17S746 and D17S846 markers that define the smallest common region of LOH on chromosome 17q21

genomic normal breast p1-phage nucleotide rt-pcr cold
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
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

PMID 20057903 · PMC2802291 · Molecular vision · 2009 · 7 claims · 8 setups

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BEST1 mutations are not correlated with the severity of functional and clinical data in Best VMD patients

genomic unrelated best1 best1-4 direct chromosome pathogenicity
Analysis of human sarcospan as a candidate gene for CFEOM1.

PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups

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Sarcospan sequence is unmutated in all six CFEOM1 families studied

yac genomic extraocular genome pcr direct immunofluorescence
Analysis of X chromosome inactivation in autism spectrum disorders.

PMID 18361425 · PMC4867005 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 6 claims · 5 setups

Full-text index only

No significant excess of skewed XCI was found in mothers of children with ASD or in affected girls compared to controls

genomic multiplex mecp2 four chromosome non-parametric mutation
Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.

PMID 16839184 · PMC1500809 · PLoS genetics · 2006 · 8 claims · 8 setups

Full-text index only

Cre/loxP recombination in ES cells can generate megabase-scale deletions, duplications, and inversions depending on loxP orientation, cis/trans configuration, and cell cycle stage

hybrid recombinant mice homologous cre clone
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups

Full-text index only

Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age

peripheral patients mody young-onset pcr microsatellite variant
Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.

PMID 17912529 · PMC4876910 · World journal of urology · 2007 · 8 claims · 8 setups

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Activating FGFR3 mutations occur frequently in bladder cancer and are strongly associated with low tumour grade and stage

bladder normal urothelial mutation allele-specific laser
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups

Full-text index only

Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)

genomic somali sri ethnically dhplc snp sanger
Stem rust resistance in wheat is suppressed by a subunit of the mediator complex.

PMID 32111840 · PMC7048732 · Nature communications · 2020 · 6 claims · 8 setups

Has reproduction · 95

SuSr-D1 encodes Med15b.D, a subunit of the conserved Mediator complex that regulates transcription of protein-coding genes.

wheat cth chromosome ns1 stem adult-plant flow-sorted
WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.

PMID 8645586 · PMC2074480 · British journal of cancer · 1996 · 7 claims · 5 setups

Full-text index only

No WAF1/CIP1 coding mutations were found in any of 36 ovarian carcinomas sequenced, including tumors with LOH on 6p and those lacking p53 mutations

ovarian blood tumor pcr sequencing loss
Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3-13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes.

PMID 9155043 · PMC2228239 · British journal of cancer · 1997 · 8 claims · 4 setups

Full-text index only

Two commonly deleted regions on chromosome 12 were identified in ovarian cancer: 12p12.3-13.1 (6/23 samples) and 12q23-ter (7/23 samples)

ovarian loh pcr-sscp multiplex

Experiments

Evolutionary repair: Changes in multiple functional modules allow meiotic cohesin to support mitosis.

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

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.

Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.

Infrequent mutation of the H-cadherin gene on chromosome 16q24 in human breast cancers.

Candidate target genes for loss of heterozygosity on human chromosome 17q21.

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

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

Analysis of human sarcospan as a candidate gene for CFEOM1.

Analysis of X chromosome inactivation in autism spectrum disorders.

Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Stem rust resistance in wheat is suppressed by a subunit of the mediator complex.

WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.

Ovarian cancer has frequent loss of heterozygosity at chromosome 12p12.3-13.1 (region of TEL and Kip1 loci) and chromosome 12q23-ter: evidence for two new tumour-suppressor genes.