Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

Alice Costantini; Riikka E. Mäkitie; Markus A. Hartmann; Nadja Fratzl-Zelman; M. Carola Zillikens; Uwe Kornak; Kent Soe; Outi Mäkitie

doi:10.1002/jbmr.4668

Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

Alice Costantini, Riikka E. Mäkitie, Markus A. Hartmann, Nadja Fratzl-Zelman, M. Carola Zillikens, Uwe Kornak, Kent Soe, Outi Mäkitie

Research output: Contribution to journal › Review Article › peer-review

Original language	English
Journal	Journal of Bone and Mineral Research
Volume	37
Issue number	9
Pages (from-to)	1623-1641
Number of pages	19
ISSN	0884-0431
DOIs	https://doi.org/10.1002/jbmr.4668
Publication status	Published - Sept 2022
MoE publication type	A2 Review article in a scientific journal

Fields of Science

OSTEOPOROSIS
GENETIC RESEARCH
WNT/beta-CATENIN/LRPS
BONE MODELING AND REMODELING
BONE HISTOMORPHOMETRY
MINERALIZATION DENSITY DISTRIBUTION
SPHINGOMYELIN SYNTHASE 2
LDL-RECEPTOR-RELATED-PROTEIN-5 LRP5 GENE
SCLEROSTIN ANTIBODY TREATMENT
EXOME SEQUENCING REVEALS
COLON-CANCER RECURRENCE
X-LINKED OSTEOPOROSIS
OSTEOGENESIS IMPERFECTA
TERIPARATIDE TREATMENT
BONE MINERALIZATION
3121 General medicine, internal medicine and other clinical medicine

Access to Document

10.1002/jbmr.4668Licence: CC BY

J of Bone Mineral Res - 2022 - Costantini - Early‐Onset Osteoporosis Rare Monogenic Forms Elucidate the Complexity ofFinal published version, 5.45 MBLicence: CC BY

Cite this

@article{4fc8d97a146d4025b2921daa3a2bd3d5,

title = "Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen",

keywords = "OSTEOPOROSIS, GENETIC RESEARCH, WNT/beta-CATENIN/LRPS, BONE MODELING AND REMODELING, BONE HISTOMORPHOMETRY, MINERALIZATION DENSITY DISTRIBUTION, SPHINGOMYELIN SYNTHASE 2, LDL-RECEPTOR-RELATED-PROTEIN-5 LRP5 GENE, SCLEROSTIN ANTIBODY TREATMENT, EXOME SEQUENCING REVEALS, COLON-CANCER RECURRENCE, X-LINKED OSTEOPOROSIS, OSTEOGENESIS IMPERFECTA, TERIPARATIDE TREATMENT, BONE MINERALIZATION, 3121 General medicine, internal medicine and other clinical medicine",

author = "Alice Costantini and M{\"a}kitie, {Riikka E.} and Hartmann, {Markus A.} and Nadja Fratzl-Zelman and Zillikens, {M. Carola} and Uwe Kornak and Kent Soe and Outi M{\"a}kitie",

year = "2022",

month = sep,

doi = "10.1002/jbmr.4668",

language = "English",

volume = "37",

pages = "1623--1641",

journal = "Journal of Bone and Mineral Research",

issn = "0884-0431",

publisher = "Oxford University Press",

number = "9",

}

TY - JOUR

T1 - Early-Onset Osteoporosis

T2 - Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

AU - Costantini, Alice

AU - Mäkitie, Riikka E.

AU - Hartmann, Markus A.

AU - Fratzl-Zelman, Nadja

AU - Zillikens, M. Carola

AU - Kornak, Uwe

AU - Soe, Kent

AU - Mäkitie, Outi

PY - 2022/9

Y1 - 2022/9

KW - OSTEOPOROSIS

KW - GENETIC RESEARCH

KW - WNT/beta-CATENIN/LRPS

KW - BONE MODELING AND REMODELING

KW - BONE HISTOMORPHOMETRY

KW - MINERALIZATION DENSITY DISTRIBUTION

KW - SPHINGOMYELIN SYNTHASE 2

KW - LDL-RECEPTOR-RELATED-PROTEIN-5 LRP5 GENE

KW - SCLEROSTIN ANTIBODY TREATMENT

KW - EXOME SEQUENCING REVEALS

KW - COLON-CANCER RECURRENCE

KW - X-LINKED OSTEOPOROSIS

KW - OSTEOGENESIS IMPERFECTA

KW - TERIPARATIDE TREATMENT

KW - BONE MINERALIZATION

KW - 3121 General medicine, internal medicine and other clinical medicine

U2 - 10.1002/jbmr.4668

DO - 10.1002/jbmr.4668

M3 - Review Article

SN - 0884-0431

VL - 37

SP - 1623

EP - 1641

JO - Journal of Bone and Mineral Research

JF - Journal of Bone and Mineral Research

IS - 9

ER -