2023
Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia
Barros J, Braddock D, Carpenter T. Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia. Bone Reports 2023, 19: 101707. PMID: 37654679, PMCID: PMC10466911, DOI: 10.1016/j.bonr.2023.101707.Peer-Reviewed Original ResearchMonths of ageCraniometaphyseal dysplasiaLow serum phosphorusElevated serum alkaline phosphatase activityHeterozygous pathogenic variantsSerum alkaline phosphatase activityHigh tubular reabsorptionProgressive hyperostosisSecondary hyperparathyroidismRadiographic improvementSerum phosphorusTubular reabsorptionRadiographic changesCranial nervesEarly featureMetaphyseal flaringPathogenic variantsDysplasiaRicketsSkeletal dysplasiaBiochemical profileMonthsLong bonesCraniofacial bonesAge 1
2022
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Sokoya T, Parolek J, Foged M, Danylchuk D, Bozan M, Sarkar B, Hilderink A, Philippi M, Botto L, Terhal P, Mäkitie O, Piehler J, Kim Y, Burd C, Klymchenko A, Maeda K, Holthuis J. Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway. ELife 2022, 11: e79278. PMID: 36102623, PMCID: PMC9531943, DOI: 10.7554/elife.79278.Peer-Reviewed Original ResearchConceptsSecretory pathwayER export signalPatient-derived fibroblastsFull enzymatic activityPhysical membrane propertiesExport signalSterol gradientLipid landscapeMammalian cellsCholesterol organizationLipid orderEnzymatic activityLipid distributionOsteogenic cellsPathwayBone phenotypeSMS2Glycerophospholipid profilePathogenic variantsCellsVariantsSphingomyelinSkeletal dysplasiaERSphingolipids
2015
Fetal disorders affecting labor and delivery
Merriam A, Sciscione A. Fetal disorders affecting labor and delivery. 2015, 348-361. DOI: 10.1002/9781118327241.ch14.Peer-Reviewed Original ResearchIntrauterine growth restrictionFetal disordersClosure of myelomeningoceleMyelomeningocele Study (MOMS) trialMonths of ageFetal scalp electrodeDegree of severityCommon skeletal dysplasiaGestational ageVentricular shuntVacuum deliveryGrowth restrictionPeripartum periodChiari malformationFetal conditionForms of dwarfismCardiac defectsMaternal conditionSkeletal dysplasiaScalp electrodesMore childrenStudy trialDelivery considerationsInfantsDisorders
2014
Non-cutaneous conditions clinicians might mistake for abuse
Metz J, Schwartz K, Feldman K, Lindberg D, Coffman J, Bretl D, Harper N, Deye K, Laskey A, Duralde Y, Donaruma-Kwoh M, Steiner D, Feldman K, Schwartz K, Shapiro R, Newton A, Berger R, Hymel K, Haney S, Pekarsky A, Asnes A, McPherson P, Mehta N, Gladston G. Non-cutaneous conditions clinicians might mistake for abuse. Archives Of Disease In Childhood 2014, 99: 817. PMID: 24748639, DOI: 10.1136/archdischild-2013-304701.Peer-Reviewed Original ResearchConceptsLikelihood of abuseMost disease categoriesVitamin D deficiencyPediatric care providersMetabolic bone diseasePhysical abuseAbuse research networkCutaneous mimicsExamining SiblingsD deficiencyMulticentre cohortBone diseaseCare providersConcurrent abuseSecondary analysisDisease categoriesSkeletal dysplasiaAbuse concernsChildrenResearch NetworkAbuseSubjectsMimicsHigh levelsGastrointestinal
2013
Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype
Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M. Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype. American Journal Of Medical Genetics Part A 2013, 161: 1300-1308. PMID: 23633440, DOI: 10.1002/ajmg.a.35906.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAdolescentAdultCalcification, PhysiologicCodon, NonsenseConsanguinityDehydroepiandrosteroneDehydroepiandrosterone SulfateDwarfismFemaleGenotypeGrowth DisordersHomozygoteHumansMaleMultienzyme ComplexesMusculoskeletal AbnormalitiesOsteochondrodysplasiasPedigreePhenotypeRadiographySequence Analysis, DNASulfate AdenylyltransferaseTurkeyConceptsDHEA sulfate levelsShort femoral neckShort halluxFemale patientsInsulin resistanceFemoral neckPlasma levelsIliac boneTestosterone levelsTurkish patientsCoxa varaPatientsVertebral bodyMetaphyseal abnormalitiesShort statureSkeletal dysplasiaEpiphyseal ossificationHyperandrogenismDysplasiaDehydroepiandrosteroneSulfate levelsTurkish familyNonsense mutationPAPSS2Androstenedione
1997
Bcl-2 Lies Downstream of Parathyroid Hormone–related Peptide in a Signaling Pathway That Regulates Chondrocyte Maturation during Skeletal Development
Amling M, Neff L, Tanaka S, Inoue D, Kuida K, Weir E, Philbrick W, Broadus A, Baron R. Bcl-2 Lies Downstream of Parathyroid Hormone–related Peptide in a Signaling Pathway That Regulates Chondrocyte Maturation during Skeletal Development. Journal Of Cell Biology 1997, 136: 205-213. PMID: 9008714, PMCID: PMC2132464, DOI: 10.1083/jcb.136.1.205.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisbcl-2-Associated X ProteinBone DevelopmentCartilageCells, CulturedCollagenGene ExpressionGrowth PlateHumansHypertrophyMiceMice, KnockoutMice, TransgenicOrgan SpecificityParathyroid Hormone-Related ProteinPromoter Regions, GeneticProteinsProto-Oncogene ProteinsProto-Oncogene Proteins c-bcl-2Recombinant Fusion ProteinsSignal TransductionConceptsSkeletal developmentChondrocyte maturationBcl-2Cell deathCollagen II promoterApoptotic cell deathMutant PTH/PTHrP receptorsDevelopmental programMolecular mechanismsSignaling pathwaysCell typesGrowth plate chondrocytesTargeted disruptionGenesMetaphyseal chondrodysplasiaMaturationPTHrP geneTransgenic micePathwayPTH/PTHrP receptorAccelerated maturationSkeletal dysplasiaHormone-related peptideMajor roleChondrocytes
1982
Diagnosis of fetal skeletal dysplasias with ultrasound
Hobbins J, Bracken M, Mahoney M. Diagnosis of fetal skeletal dysplasias with ultrasound. American Journal Of Obstetrics And Gynecology 1982, 142: 306-312. PMID: 7065020, DOI: 10.1016/0002-9378(82)90735-9.Peer-Reviewed Original ResearchConceptsSecond-trimester fetusesSkeletal dysplasiaFetal skeletal dysplasiaNormal second-trimester fetusesUltrasound measurementsReal-time ultrasoundAccuracy of diagnosisFemoral fracturesUltrasound evaluationChondroectodermal dysplasiaPregnant womenPositive diagnosisUtero diagnosisDysplasiaMeans of ultrasoundDiagnosisFetusesLong bonesFemurUltrasoundBone measurementsHumerusBone lengthFurther studiesFetal femur
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