Advanced Genetic Approaches in Discovery and Characterization of Genes Involved With Osteoporosis in Mouse and Human

Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget’s disease of bone

(2019) Benjamin H. Mullin et al.   Scientific Reports

Development and application of CRISPR/Cas9 technologies in genomic editing

(2018) Cui Zhang et al.   HUMAN MOLECULAR GENETICS

Expression Quantitative Trait Locus Study of Bone Mineral Density GWAS Variants in Human Osteoclasts

(2018) Benjamin H Mullin et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Keratinocyte Sonic Hedgehog Upregulation Drives the Development of Giant Congenital Nevi via Paracrine Endothelin-1 Secretion

(2018) Arash Chitsazan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models

(2018) Aimy Sebastian et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation

(2017) Benjamin H. Mullin et al.   HUMAN MOLECULAR GENETICS

CRISPR/CAS9 Technologies

(2017) Bart O Williams et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The Ability of a Single BMD and Fracture History Assessment to Predict Fracture Over 25 Years in Postmenopausal Women: The Study of Osteoporotic Fractures

(2017) Dennis M Black et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

(2017) John P Kemp et al.   NATURE GENETICS

Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density

(2016) Benjamin H. Mullin et al.   BMC GENOMICS

Increased trabecular bone and improved biomechanics in an osteocalcin-null rat model created by CRISPR/Cas9 technology

(2016) Laura J. Lambert et al.   Disease Models & Mechanisms

A mutation in theCdongene potentiates congenital nevus development mediated by NRASQ61K

(2016) Arash Chitsazan et al.   Pigment Cell & Melanoma Research

Joint mouse–human phenome-wide association to test gene function and disease risk

(2016) Xusheng Wang et al.   Nature Communications

Morc3 mutant mice exhibit reduced cortical area and thickness, accompanied by altered haematopoietic stem cells niche and bone cell differentiation

(2016) Gaurav Jadhav et al.   Scientific Reports

Collaborative cross mice in a genetic association study reveal new candidate genes for bone microarchitecture

(2015) Roei Levy et al.   BMC GENOMICS

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

(2015) Darío G. Lupiáñez et al.   CELL

Mapping the heparin-binding site of the osteoinductive protein NELL1 by site-directed mutagenesis

(2015) Kaneyoshi Takahashi et al.   FEBS LETTERS

A trans-ethnic genome-wide association study identifies gender-specific loci influencing pediatric aBMD and BMC at the distal radius

(2015) Alessandra Chesi et al.   HUMAN MOLECULAR GENETICS

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

(2015) Hou‐Feng Zheng et al.   NATURE

Functions of vasopressin and oxytocin in bone mass regulation

(2015) Li Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

(2015) Katerina Kraft et al.   Cell Reports

Genetic perturbations that impair functional trait interactions lead to reduced bone strength and increased fragility in mice

(2014) Lauren M. Smith et al.   BONE

Heritability of Bone Mineral Density in a Multivariate Family-Based Study

(2014) Nerea Hernandez-de Sosa et al.   CALCIFIED TISSUE INTERNATIONAL

Rapid Identification of Major-Effect Genes Using the Collaborative Cross

(2014) Ramesh Ram et al.   GENETICS

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

(2014) Alireza Moayyeri et al.   HUMAN MOLECULAR GENETICS

Choline Kinase β Mutant Mice Exhibit Reduced Phosphocholine, Elevated Osteoclast Activity, and Low Bone Mass

(2014) Jasreen Kular et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome

(2014) Frieda Chen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Melanoma susceptibility as a complex trait: genetic variation controls all stages of tumor progression

(2014) B Ferguson et al.   ONCOGENE

Collaborative Meta-analysis: Associations of 150 Candidate Genes With Osteoporosis and Osteoporotic Fracture

(2013) J. Brent Richards   ANNALS OF INTERNAL MEDICINE

Candidate gene association studies: a comprehensive guide to useful in silico tools

(2013) Radhika Patnala et al.   BMC GENETICS

Using the emerging Collaborative Cross to probe the immune system

(2013) J Phillippi et al.   GENES AND IMMUNITY

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

(2013) Lei Zhang et al.   HUMAN MOLECULAR GENETICS

The challenges, advantages and future of phenome-wide association studies

(2013) Scott J. Hebbring   IMMUNOLOGY

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Genetic Determinants of Trabecular and Cortical Volumetric Bone Mineral Densities and Bone Microstructure

(2013) Lavinia Paternoster et al.   PLoS Genetics

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Meta-analysis of genome-wide studies identifiesWNT16andESR1SNPs associated with bone mineral density in premenopausal women

(2012) Daniel L Koller et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Genome-Wide Association Studies of Skeletal Phenotypes: What We Have Learned and Where We Are Headed

(2012) Yi-Hsiang Hsu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

(2012) Karol Estrada et al.   NATURE GENETICS

TALENs: a widely applicable technology for targeted genome editing

(2012) J. Keith Joung et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Expression Quantitative Trait Loci for Extreme Host Response to Influenza A in Pre-Collaborative Cross Mice

(2012) Daniel Bottomly et al.   G3-Genes Genomes Genetics

Meta-Analysis of Genome-Wide Scans for Total Body BMD in Children and Adults Reveals Allelic Heterogeneity and Age-Specific Effects at the WNT16 Locus

(2012) Carolina Medina-Gomez et al.   PLoS Genetics

WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk

(2012) Hou-Feng Zheng et al.   PLoS Genetics

Genome Engineering With Zinc-Finger Nucleases

(2011) Dana Carroll   GENETICS

A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF

(2011) Eleni Douni et al.   HUMAN MOLECULAR GENETICS

Heritability of prevalent vertebral fracture and volumetric bone mineral density and geometry at the lumbar spine in three generations of the framingham study

(2011) Ching-Ti Liu et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The Genetics of Bone Loss: Challenges and Prospects

(2011) Braxton D. Mitchell et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic influence on bone mineral density in Korean twins and families: the healthy twin study

(2011) J.-H. Park et al.   OSTEOPOROSIS INTERNATIONAL

Genome-Wide Association Study Using Extreme Truncate Selection Identifies Novel Genes Affecting Bone Mineral Density and Fracture Risk

(2011) Emma L. Duncan et al.   PLoS Genetics

Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies

(2010) Annie W.C. Kung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new method for multi-site-directed mutagenesis

(2010) Jing Tian et al.   ANALYTICAL BIOCHEMISTRY

Genetics of osteoporosis

(2010) Stuart H. Ralston   Annals of the New York Academy of Sciences

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Refined QTLs of osteoporosis-related traits by linkage analysis with genome-wide SNPs: Framingham SHARe

(2010) David Karasik et al.   BONE

The Assessment of Fracture Risk

(2010) Aasis Unnanuntana et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Genetically determined phenotype covariation networks control bone strength

(2010) Karl J Jepsen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mouse BMD quantitative trait loci show improved concordance with human genome-wide association loci when recalculated on a new, common mouse genetic map

(2010) Cheryl L Ackert-Bicknell et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Genome-Wide Association Study of Bone Mineral Density in Premenopausal European-American Women and Replication in African-American Women

(2010) Daniel L. Koller et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-Wide Association Study Identifies ALDH7A1 as a Novel Susceptibility Gene for Osteoporosis

(2010) Yan Guo et al.   PLoS Genetics

An Integration of Genome-Wide Association Study and Gene Expression Profiling to Prioritize the Discovery of Novel Susceptibility Loci for Osteoporosis-Related Traits

(2010) Yi-Hsiang Hsu et al.   PLoS Genetics

Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups

(2009) Dong-Hai Xiong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

(2009) Donald Basel et al.   GENETICS IN MEDICINE

Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse

(2009) Qing Xiong et al.   GENOMICS

Is there still a need for candidate gene approaches in the era of genome-wide association studies?

(2009) Stefan Wilkening et al.   GENOMICS

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

(2009) Nicholas J. Timpson et al.   HUMAN MOLECULAR GENETICS

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

(2009) Fernando Rivadeneira et al.   NATURE GENETICS

Oxytocin is an anabolic bone hormone

(2009) R. Tamma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide significance for dense SNP and resequencing data

(2008) Clive J. Hoggart et al.   GENETIC EPIDEMIOLOGY

Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study

(2008) JB Richards et al.   LANCET

Establishment of “The Gene Mine”: a resource for rapid identification of complex trait genes

(2008) Grant Morahan et al.   MAMMALIAN GENOME

New sequence variants associated with bone mineral density

(2008) Unnur Styrkarsdottir et al.   NATURE GENETICS

Multiple Genetic Loci for Bone Mineral Density and Fractures

(2008) Unnur Styrkarsdottir et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic and environmental determinants on bone loss in postmenopausal Caucasian women: a 14-year longitudinal twin study

(2008) G. Zhai et al.   OSTEOPOROSIS INTERNATIONAL