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).

• Effects of the brain-derived neurotrophic growth factor val66met variation on hippocampus morphology in bipolar disorder.

  PMID 18704093 · PMC2837582 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 7 claims · 3 setups

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  Hippocampus volume is significantly smaller in BD subjects compared to healthy comparison (HC) subjects.

  subjects venous hand-traced structural genotyping 3-d

• Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

  PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups

  Has reproduction · 84

  Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1

  blood-derived four patients col2a1 targeted clinical transthoracic

• Of brain and bone: the unusual case of Dr. A.

  PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups

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  Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex

  structural blood postmortem muscle voxel-based genetic neuropathology

• Leber's hereditary optic neuropathy--case report and literature review.

  PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups

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  Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON

  peripheral left optic visual pcr muscle visual

• A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

  PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

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  A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

  peripheral genomic pcr direct pcr rflp

• Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

  PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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  The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

  genomic proband blood patients pcr long-range combined

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• 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

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  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

• MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

  PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups

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  The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap

  peripheral genomic pcr leukocytes two-point direct pcr

• Association of the SerCys DISC1 polymorphism with human hippocampal formation gray matter and function during memory encoding.

  PMID 19046394 · PMC2865560 · The European journal of neuroscience · 2008 · 8 claims · 5 setups

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  Individuals homozygous for the DISC1 Ser allele show greater HF (parahippocampal) gray matter volume than Cys allele carriers

  healthy extracted voxel-based task psychophysiological

• 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

• Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

  PMID 18437002 · PMC2526428 · Journal of Korean medical science · 2008 · 6 claims · 6 setups

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  Two different PSEN1 mutations (G206S and M233T) were identified in Korean EOAD patients

  genomic blood korean patients direct pcr apoe

• Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

  PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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  SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia

  blood parents sox2-mutation-positive pcr parental clinical

• No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

  PMID 11961312 · PMC3054847 · Journal of Korean medical science · 2002 · 5 claims · 4 setups

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  FXIII Val34Leu polymorphism is absent or rare in both PICH patients and healthy controls among Koreans

  genomic pcr randomly pich pcr single-stranded direct

• Mosaicism in von Hippel-Lindau disease: an event important to recognize.

  PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups

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  The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.

  peripheral father's pcr proband dhplc sanger semiquantitative

• Multimodal techniques for diagnosis and prognosis of Alzheimer's disease.

  PMID 19829371 · PMC2810658 · Nature · 2009 · 8 claims · 8 setups

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  AD pathology accumulates for approximately 10-15 years in a preclinical phase before synaptic and neuronal loss manifest as cognitive decline

  subjects csf peripheral amyloid structural functional

• Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

  PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups

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  The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)

  3-year-old serum genomic clinical hormone water

• Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

  PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups

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  Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14

  south genomic family genetic direct bioinformatic

• Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.

  PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups

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  Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency

  erythrocyte genomic peripheral erythrocytes sds-page non-denaturing direct

• Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

  PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups

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  A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.

  cerebrospinal genomic brain blood elisa genetic apoe