Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density

(2013) Somayyeh Fahiminiya et al.   BONE

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

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Comparative secretome analysis of human bone marrow-derived mesenchymal stem cells during osteogenesis

(2012) Jung-Min Kim et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

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

(2011) Cyril Thouverey et al.   Journal of Proteomics

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I

(2010) Frank Rauch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2007 Pediatric Official Positions

(2008) Frank Rauch et al.   JOURNAL OF CLINICAL DENSITOMETRY

High-resolution cryo-EM structure of the F-actin-fimbrin/plastin ABD2 complex

(2008) V. E. Galkin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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