Candidate Genes for Osteoporosis

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

The Sequence of the Human Genome

2001 • 13,500 citations

Apolipoprotein E: Cholesterol Transport Protein with Expanding Role in Cell Biology

1988 • 3,984 citations

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

2001 • 2,948 citations

ASSESSMENT OF FRACTURE RISK AND ITS APPLICATION TO SCREENING FOR POSTMENOPAUSAL OSTEOPOROSIS

1994 • 2,556 citations

Bone density at various sites for prediction of hip fractures

1993 • 2,431 citations

The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis.

1998 • 2,261 citations

Principles of Bone Biology

2019 • 1,699 citations

Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

1995 • 1,354 citations

Genetic determinants of bone mass in adults. A twin study.

1987 • 1,261 citations

Pre-Existing Fractures and Bone Mass Predict Vertebral Fracture Incidence in Women

1991 • 1,113 citations

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency

1996 • 1,003 citations

A Review of its Symptomatology, Natural History, Pathologic Features, Genetics And Relationship to the Natural Aging Process

1966 • 831 citations

Growth Hormone and Bone*

1998 • 807 citations

Reduced Bone Mass in Daughters of Women with Osteoporosis

1989 • 636 citations

The Collagenolytic Activity of Cathepsin K Is Unique among Mammalian Proteinases

1998 • 631 citations

Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene

1996 • 630 citations

Genetic determinants of bone mass in adult women: A reevaluation of the twin model and the potential importance of gene interaction on heritability estimates

1991 • 618 citations

Baseline Measurement of Bone Mass Predicts Fracture in White Women

1989 • 587 citations

Genetic Factors in Determining Bone Mass

1973 • 586 citations

Association of bone mineral density with polymorphism of the estrogen receptor gene

1996 • 567 citations

Heritable and life-style determinants of bone mineral density

1993 • 566 citations

The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal mexican-American women

1996 • 451 citations

Relation of Alleles of the Collagen Type Iα1 Gene to Bone Density and the Risk of Osteoporotic Fractures in Postmenopausal Women

1998 • 425 citations

Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis

1996 • 421 citations

Genetic determinants of bone mineral content at the spine and radius: A twin study

1987 • 324 citations

Linkage of a Gene Causing High Bone Mass to Human Chromosome 11 (11q12-13)

1997 • 321 citations

Role of collagen hydrolysate in bone and joint disease

2000 • 312 citations

Association Between Serum Insulin Growth Factor-I (IGF-I) and a Simple Sequence Repeat in IGF-I Gene: Implications for Genetic Studies of Bone Mineral Density

1998 • 303 citations

The Vitamin D Receptor Start Codon Polymorphism (FokI) and Bone Mineral Density in Premenopausal American Black and White Women

1997 • 285 citations

Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines

2000 • 266 citations

Estrogen and bone metabolism

1996 • 251 citations

The Use of CLUSTAL W and CLUSTAL X for Multiple Sequence Alignment

2003 • 250 citations

Association of Estrogen Receptor Dinucleotide Repeat Polymorphism with Osteoporosis

1995 • 241 citations

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

1996 • 241 citations

Bone Mineral Density and Its Change in White Women: Estrogen and Vitamin D Receptor Genotypes and Their Interaction

1998 • 239 citations

Role of Vitamin K in Bone Metabolism

1995 • 236 citations

A sequence variation: 713-8delC in the transforming growth factor-beta 1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women

1997 • 222 citations

First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

1998 • 222 citations

Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women

1996 • 221 citations

Vitamin D and Estrogen Receptor Allelic Variants in Italian Postmenopausal Women: Evidence of Multiple Gene Contribution to Bone Mineral Density

1998 • 207 citations

Association of Bone Mineral Density with Apolipoprotein E Phenotype

1997 • 200 citations

Genome Screen for QTLs Contributing to Normal Variation in Bone Mineral Density and Osteoporosis*

2000 • 199 citations

Bone Mass Is Low in Relatives of Osteoporotic Patients

1988 • 195 citations

The BsmI vitamin D receptor restriction fragment length polymorphism (BB) predicts low bone density in premenopausal black and white women

1995 • 189 citations

The Role of IL‐6 Type Cytokines and Their Receptors in Bonea^a

1998 • 182 citations

A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations

1999 • 178 citations

Ultrasound and densitometry of the calcaneus correlate with the failure loads of cadaveric femurs

1995 • 165 citations

Nonassociation of Estrogen Receptor Genotypes with Bone Mineral Density and Estrogen Responsiveness to Hormone Replacement Therapy in Korean Postmenopausal Women

1997 • 163 citations

The Effect of Vitamin D Supplementation on the Bone Mineral Density of the Femoral Neck Is Associated with Vitamin D Receptor Genotype

1997 • 153 citations

Linkage of a QTL Contributing to Normal Variation in Bone Mineral Density to Chromosome 11q12–13

1998 • 152 citations

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis

1999 • 151 citations

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.

1991 • 147 citations

Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.

1997 • 146 citations

A genome-wide scan for loci linked to forearm bone mineral density

1999 • 139 citations

Change of bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes

1998 • 121 citations

Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population

1997 • 110 citations

Apolipoprotein E polymorphism and susceptibility to Alzheimer's disease.

1995 • 106 citations

Allelic variation at the interleukin-1 receptor antagonist gene is associated with early postmenopausal bone loss at the spine

1998 • 101 citations

High-throughput polymorphism screening and genotyping with high-density oligonucleotide arrays

1999 • 99 citations

Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women

1999 • 92 citations

Association Study of Parathyroid Hormone Gene Polymorphism and Bone Mineral Density in Japanese Postmenopausal Women

1999 • 92 citations

Bone Fracture History and Prospective Bone Fracture Risk of Hemodialysis Patients are Related to Apolipoprotein E Genotype

1998 • 91 citations

WRN mutations in Werner syndrome

1999 • 89 citations

Oestrogen‐receptor‐α gene polymorphism affects response in bone mineral density to oestrogen in post‐menopausal women

2000 • 73 citations

Localization of a Gene for Autosomal Dominant Osteopetrosis (Albers-Schönberg Disease) to Chromosome 1p21

1997 • 73 citations

A Novel Polymorphism in the Promoter Region for the Human Osteocalcin Gene: The Possibility of a Correlation with Bone Mineral Density in Postmenopausal Japanese Women

1998 • 68 citations

Familial comparison of bone mineral density at the proximal femur and lumbar spine

1994 • 67 citations

Characterization of Mouse Atp6i Gene, the Gene Promoter, and the Gene Expression

2001 • 67 citations

Common Polymorphism of the Vitamin D Receptor Gene is Associated with Variation of Peak Bone Mass in Young Finns

1996 • 64 citations

Allelic Variants of Human Calcitonin Receptor: Distribution and Association with Bone Mass in Postmenopausal Italian Women

1998 • 58 citations

Characterization of Mouse Cathepsin K Gene, the Gene Promoter, and the Gene Expression

1999 • 57 citations

Human α2-HS-glycoprotein/bovine fetuin homologue in mice: identification and developmental regulation of the gene

1992 • 55 citations

Association of radial bone mineral density with CA repeat polymorphism at the interleukin 6 locus in postmenoposal Japanese women

1999 • 54 citations

Association of Transforming Growth Factor β1 Genotype with Therapeutic Response to Active Vitamin D for Postmenopausal Osteoporosis

2000 • 53 citations

VDR Genotype and Response to Etidronate Therapy in Late Postmenopausal Women

1999 • 50 citations

Early and Late Postmenopausal Bone Loss is Associated with BsmI Vitamin D Receptor Gene Polymorphism in Japanese Women

1999 • 50 citations

Transforming Growth Factor-β

2008 • 37 citations

Prediction of Fracture Risk I: Bone Density

1996 • 37 citations

The Ontogeny of Growth Hormone, Insulin-Like Growth Factors and Sex Steroids: Molecular Aspects

1996 • 34 citations

Elements in the first intron of the alpha 1(I) collagen gene interact with Sp1 to regulate gene expression.

1992 • 30 citations

Lumbar vertebral and femoral neck bone mineral density are higher in postmenopausal women with the α2HS-glycoprotein 2 phenotype

1994 • 30 citations

HLA-A∗24-B∗07-DRB1∗01 Haplotype Implicated with Genetic Disposition of Peak Bone Mass in Healthy Young Japanese Women

1998 • 24 citations

Calcium, Vitamin D and Vitamin K in the Prevention of Fractures due to Osteoporosis

1999 • 23 citations

Restoration of normal bone development by human homologue of collagen type II (COL2A1) gene in Col2a1 null mice

1999 • 20 citations

Investigation of the relationship between osteoporosis and the collagenase gene by means of polymorphism of the 5?upstream region of this gene

1995 • 16 citations

An Assessment of Hormone Replacement Therapy to Prevent Postmenopausal Osteoporosis

1999 • 16 citations

Parathyroid Hormone: Does It Have a Role in the Pathogenesis of Osteoporosis?

2000 • 11 citations

Bisphosphonates in the treatment of osteoporosis. Principles and efficacy.

2000 • 11 citations