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).

• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

  PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

  Has reproduction

  HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

  cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

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

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

  Full-text index only

  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

• 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

• 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

• Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.

  PMID 19644383 · PMC2815152 · Journal of acquired immune deficiency syndromes (1999) · 2009 · 8 claims · 3 setups

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  K65R mutation is present in a substantial proportion (10.9%) of Nigerian patients failing first-line ART, including many with no prior tenofovir exposure

  plasma k65r-positive hiv-1 comparative clinical

• Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

  PMID 17100996 · PMC2714973 · Clinical genetics · 2006 · 6 claims · 6 setups

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  RSK2(RPS6KA3) mutations can present with a mild or atypical Coffin-Lowry phenotype overlapping clinically with nonsyndromic X-linked mental retardation

  blood-derived affected unaffected population mutation clinical segregation

• A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

  PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

  at-risk eyes blood bbs7 clinical ophthalmologic genetic

• 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

• Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

  PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups

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  The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.

  blood-derived individuals patients excised genomic structured tumor

• Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

  PMID 17133256 · PMC2670452 · European journal of human genetics : EJHG · 2007 · 7 claims · 3 setups

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  Expert clinical-radiological preselection significantly increases mutation detection rate in MED

  patients genomic single clinical 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

• 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

• A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

  PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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  Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

  ftld grn genomic post-mortem clinical volumetric direct

• A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

  PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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  A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

  family sural nefl-null sw-13 clinical genetic immunohistochemistry

• A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

  PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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  A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

  family genomic unrelated gja8 clinical microsatellite sequencing

• Isolated eyelid closure myotonia in two families with sodium channel myotonia.

  PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups

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  The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype

  patients blood index standardized needle direct

• Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

  PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups

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  I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients

  genomic pcr unselected i1307k mutation sequencing clinical

• Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

  PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups

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  The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.

  8-year-old muscle lower skeletal molecular immunostaining electromyogram

• 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

• Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

  PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups

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  JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.

  bone remission sanger pyrosequencing paired