Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties

Advances in understanding the role of disease-associated proteins in spinal muscular atrophy

(2017) Seyyedmohsen Hosseinibarkooie et al.   Expert Review of Proteomics

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations

(2017) Peter Kannu et al.   Hormone Research in Paediatrics

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

(2017) Anders J Kämpe et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

(2017) A. J. Kämpe et al.   OSTEOPOROSIS INTERNATIONAL

A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid

(2017) F. Lv et al.   OSTEOPOROSIS INTERNATIONAL

Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutation

(2016) Denise M. van de Laarschot et al.   BONE

Cross-talk between insulin and Wnt signaling in preadipocytes.ROLE OF Wnt CO-RECEPTOR LDL RECEPTOR-RELATED PROTEIN-5 (LRP5).

(2016) Jane Palsgaard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bone Material Properties in Osteogenesis Imperfecta

(2016) Nick Bishop   JOURNAL OF BONE AND MINERAL RESEARCH

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

(2016) Nadja Fratzl-Zelman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

(2016) Uschi Lindert et al.   Nature Communications

Genetics of osteoporosis: searching for candidate genes for bone fragility

(2016) Manuela G. M. Rocha-Braz et al.   Archives of Endocrinology Metabolism

New Genetic Forms of Childhood-Onset Primary Osteoporosis

(2015) Anders J. Kämpe et al.   Hormone Research in Paediatrics

A Novel Splice Mutation inPLS3Causes X-linked Early Onset Low-Turnover Osteoporosis

(2015) Christine M Laine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

(2015) Vicki L. McGovern et al.   PLoS One

Missense Mutations in LRP5 Associated with High Bone Mass Protect the Mouse Skeleton from Disuse- and Ovariectomy-Induced Osteopenia

(2015) Paul J. Niziolek et al.   PLoS One

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

(2014) Somayyeh Fahiminiya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PLS3 Mutations in X-Linked Osteoporosis with Fractures

(2013) Fleur S. van Dijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

(2009) N. Fratzl-Zelman et al.   BONE

Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations

(2008) Paul Roschger et al.   CALCIFIED TISSUE INTERNATIONAL

Bone mineralization density distribution in health and disease

(2007) P. Roschger et al.   BONE

Deficient Bone Formation in Idiopathic Juvenile Osteoporosis: A Histomorphometric Study of Cancellous Iliac Bone

(2006) Frank Rauch et al.   JOURNAL OF BONE AND MINERAL RESEARCH