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

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features

(2016) Eriko Nishi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

(2016) Fulya Taylan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

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

(2016) Uschi Lindert et al.   Nature Communications

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

(2015) Ludwig Heesen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Two novel DXZ4-associated long noncoding RNAs show developmental changes in expression coincident with heterochromatin formation at the human (Homo sapiens) macrosatellite repeat

(2015) Debbie M. Figueroa et al.   CHROMOSOME RESEARCH

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

Osteoblast-released Matrix Vesicles, Regulation of Activity and Composition by Sulfated and Non-sulfated Glycosaminoglycans

(2015) Johannes R. Schmidt et al.   MOLECULAR & CELLULAR PROTEOMICS

SpeedSeq: ultra-fast personal genome analysis and interpretation

(2015) Colby Chiang et al.   NATURE METHODS

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pediatric reference Raman data for material characteristics of iliac trabecular bone

(2014) S. Gamsjaeger et al.   BONE

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

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

Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions

(2014) Nick Bishop et al.   JOURNAL OF CLINICAL DENSITOMETRY

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transmenopausal Changes in Trabecular Bone Quality

(2013) Sonja Gamsjaeger et al.   JOURNAL OF BONE AND MINERAL RESEARCH

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

PLS3 Mutations in X-Linked Osteoporosis with Fractures

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

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Lessons learned from implementing a national infrastructure in Sweden for storage and analysis of next-generation sequencing data

(2013) Samuel Lampa et al.   GigaScience

Bone material properties in premenopausal women with idiopathic osteoporosis

(2012) Barbara M Misof et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Standardized nomenclature, symbols, and units for bone histomorphometry: A 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee

(2012) David W Dempster et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

Effects of 3 years treatment with once-yearly zoledronic acid on the kinetics of bone matrix maturation in osteoporotic patients

(2012) S. Gamsjaeger et al.   OSTEOPOROSIS INTERNATIONAL

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Proteomic characterization of biogenesis and functions of matrix vesicles released from mineralizing human osteoblast-like cells

(2011) Cyril Thouverey et al.   Journal of Proteomics

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

The amazing osteocyte

(2010) Lynda F Bonewald   JOURNAL OF BONE AND MINERAL RESEARCH

Role of matrix vesicles in biomineralization

(2009) Ellis E. Golub   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

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

Angiotensin II Type 2 Receptor Blockade Increases Bone Mass

(2008) Yayoi Izu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE

Bone mineralization density distribution in health and disease

(2007) P. Roschger et al.   BONE

Proteome analysis of matrix vesicles isolated from femurs of chicken embryo

(2007) Marcin Balcerzak et al.   PROTEOMICS