Identification of biallelicLRRK1mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

Lessons from rare diseases of cartilage and bone

(2015) James A Gallagher et al.   CURRENT OPINION IN PHARMACOLOGY

Novel targets for the prevention of osteoporosis – lessons learned from studies of metabolic bone disorders

(2015) Kim Henriksen et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review

(2015) Helin Zheng et al.   SKELETAL RADIOLOGY

A method for isolating high quality RNA from mouse cortical and cancellous bone

(2014) Natalie H. Kelly et al.   BONE

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

(2014) S. Miyatake et al.   CLINICAL GENETICS

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

(2014) J. Nakajima et al.   CLINICAL GENETICS

Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments

(2014) Igor Fijalkowski et al.   Current Osteoporosis Reports

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

(2013) Masahiro Nakajima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted disruption of leucine-rich repeat kinase 1 but not leucine-rich repeat kinase 2 in mice causes severe osteopetrosis

(2013) Weirong Xing et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Human leucine-rich repeat kinase 1 and 2: intersecting or unrelated functions?

(2012) Laura Civiero et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Osteoprotection by semaphorin 3A

(2012) Mikihito Hayashi et al.   NATURE

Targeted Disruption of Ephrin B1 in Cells of Myeloid Lineage Increases Osteoclast Differentiation and Bone Resorption in Mice

(2012) Shaohong Cheng et al.   PLoS One

Nosology and classification of genetic skeletal disorders: 2010 revision

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

Evidence for osteocyte regulation of bone homeostasis through RANKL expression

(2011) Tomoki Nakashima et al.   NATURE MEDICINE

WD40 proteins propel cellular networks

(2010) Christian U. Stirnimann et al.   TRENDS IN BIOCHEMICAL SCIENCES

Ephrin B1 Regulates Bone Marrow Stromal Cell Differentiation and Bone Formation by Influencing TAZ Transactivation via Complex Formation with NHERF1

(2009) W. Xing et al.   MOLECULAR AND CELLULAR BIOLOGY