0000000000201185

AUTHOR

Andrew Carr

showing 3 related works from this author

Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium

2011

Objective: To address the need for standardization of osteoarthritis (OA) phenotypes by examining the effect of heterogeneity among symptomatic (SOA) and radiographic osteoarthritis (ROA) phenotypes. Methods: Descriptions of OA phenotypes of the 28 studies involved in the TREAT-OA consortium were collected. We investigated whether different OA definitions result in different association results by creating various hip OA definitions in one large population based cohort (the Rotterdam Study I (RSI)) and testing those for association with gender, age and body mass index using one-way ANOVA. For ROA, we standardized the hip-, knee- and hand ROA definitions and calculated prevalence's of RO…

Malenivelrikkomedicine.medical_specialtygenetiikkaBiomedical EngineeringMEDLINEdiagnostiset kriteeritOsteoarthritisbehavioral disciplines and activitiesArticleCohort Studies03 medical and health sciencesRotterdam Study0302 clinical medicineRheumatologyInternal medicineTREATOAOsteoarthritismedicinePrevalenceGeneticsHumansOrthopedics and Sports Medicine030304 developmental biologyRheumatology and Autoimmunity2. Zero hunger030203 arthritis & rheumatology0303 health sciencesAnalysis of Varianceperinnöllisyystiedebusiness.industryCase-control studyDefinitionReference Standardsmedicine.diseaseGenetics Osteoarthritis Phenotype Definition TREATOA genome-wide association radiographic hip osteoarthritis bone-mineral density knee osteoarthritis hand osteoarthritis osteoporotic fractures general-population joint involvement risk-factors susceptibilityRheumatology3. Good healthPhenotypeCase-Control Studiesdiagnostic criteriaCohortPhysical therapyFemalebusinessBody mass indexCohort study
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Changing the Mindset in Life Sciences Toward Translation: A Consensus

2014

Participants at the recent Translate! 2014 meeting in Berlin, Germany, reached a consensus on the rate-limiting factor for advancing translational medicine.

medicine.medical_specialtyConsensusbusiness.industryInternational CooperationAlternative medicineMEDLINETranslational medicineMindsetGeneral MedicineBiological Science DisciplineshumanitiesBiological Science DisciplinesTranslational Research BiomedicalResearch Support as TopicmedicineHumansEngineering ethicsbusinesshuman activitiesScience Translational Medicine
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Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia

1999

Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous disorder with marked clinical and radiographic variability. Traditionally, the mild "Ribbing" and severe "Fairbank" types have been used to define a broad phenotypic spectrum. Mutations in the gene encoding cartilage oligomeric-matrix protein have been shown to result in several types of MED, whereas mutations in the gene encoding the alpha2 chain of type IX collagen (COL9A2) have so far been found only in two families with the Fairbank type of MED. Type IX collagen is a heterotrimer of pro-alpha chains derived from three distinct genes-COL9A1, COL9A2, and COL9A3. In this article, we describe two families with distinctive ol…

MaleAdolescentRNA SplicingMutantGene mutationBiologyOsteochondrodysplasiasmedicine.disease_causeMultiple epiphyseal dysplasia03 medical and health sciencesExon0302 clinical medicineOsteoarthritismedicineGeneticsHumansGenetics(clinical)Genetic TestingOsteochondrodysplasiaMultiple epiphyseal dysplasiaGene mutationAlleleChildPolymorphism Single-Stranded ConformationalGenetics (clinical)030304 developmental biologyGenetics0303 health sciencesMutationType IX collagenGenetic heterogeneitymedicine.diseaseOsteochondrodysplasiaPedigreeRadiographyCartilageChild PreschoolMutationFemaleEpiphysesProcollagen030217 neurology & neurosurgeryResearch ArticleThe American Journal of Human Genetics
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