Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility

Show simple item record Makitie, Riikka E. Kampe, Anders J. Taylan, Fulya Makitie, Outi 2018-09-05T21:49:03Z 2018-09-05T21:49:03Z 2017-08
dc.identifier.citation Makitie , R E , Kampe , A J , Taylan , F & Makitie , O 2017 , ' Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility ' , Current Osteoporosis Reports (Online) , vol. 15 , no. 4 , pp. 303-310 .
dc.identifier.other PURE: 89299873
dc.identifier.other PURE UUID: 6c279783-a9f5-4c5e-aa0b-272e0bda8782
dc.identifier.other WOS: 000406652300008
dc.identifier.other Scopus: 85021242119
dc.description.abstract Purpose of Review This review summarizes our current knowledge on primary osteoporosis in children with focus on recent genetic findings. Recent Findings Advances in genetic research, particularly next-generation sequencing, have found several genetic loci that associate with monogenic forms of inherited osteoporosis, widening the scope of primary osteoporosis beyond classical osteogenesis imperfecta. New forms of primary osteoporosis, such as those related to WNT1, PLS3, and XYLT2, have identified defects outside the extracellular matrix components and collagen-related pathways, in intracellular cascades directly affecting bone cell function. Summary Primary osteoporosis can lead to severe skeletal morbidity, including abnormal longitudinal growth, compromised bone mass gain, and noticeable fracture tendency beginning at childhood. Early diagnosis and timely care are warranted to ensure the best achievable bone health. Future research will most likely broaden the spectrum of primary osteoporosis, hopefully provide more insight into the genetics governing bone health, and offer new targets for treatment. en
dc.format.extent 8
dc.language.iso eng
dc.relation.ispartof Current Osteoporosis Reports (Online)
dc.rights unspecified
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject Primary osteoporosis
dc.subject WNT1
dc.subject PLS3
dc.subject XYLT2
dc.subject Osteogenesis imperfect
dc.subject WNT1 MUTATIONS
dc.subject SOST GENE
dc.subject PLASTIN 3
dc.subject FAMILIES
dc.subject DENSITY
dc.subject PHENOTYPE
dc.subject CHILDREN
dc.subject 3121 General medicine, internal medicine and other clinical medicine
dc.title Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility en
dc.type Review Article
dc.contributor.organization HUS Internal Medicine and Rehabilitation
dc.contributor.organization HUS Children and Adolescents
dc.contributor.organization Clinicum
dc.contributor.organization Children's Hospital
dc.contributor.organization Lastentautien yksikkö
dc.description.reviewstatus Peer reviewed
dc.relation.issn 1544-2241
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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