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List of works by Michael J. Econs

A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells

scientific article published on February 2012

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

scientific article published in September 2007

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

scientific article published on 01 October 2007

A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive

scientific article published in February 2005

Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression

scientific article published on 12 February 2009

Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes

scientific article published on 24 August 2005

Approach to the Hypophosphatemic Patient ⬇️

scientific article published on March 1, 2012

Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults

scientific article

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

scientific article published on 29 October 2018

Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity

scientific article published on 01 June 2003

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

scientific article published on 12 December 2006

Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23 ⬇️

scientific article (publication date: December 2001)

Bone loss at the femoral neck in premenopausal white women: effects of weight change and sex-hormone levels

scientific article

Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

scientific article published on 01 July 1999

Bone mineral density variation in men is influenced by sex-specific and non sex-specific quantitative trait loci

scientific article published on 08 May 2009

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.

scientific article published on 08 August 2008

Case 29-2001: Oncogenic Hypophosphatemic Osteomalacia

scientific article published on 01 January 2002

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II

scientific article (publication date: August 2003)

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

Common Genetic Determinants of Vitamin D Insufficiency: A Genome-Wide Association Study

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

scientific article

Confirmation of linkage to chromosome 1q for peak vertebral bone mineral density in premenopausal white women

scientific article

Contribution of the LRP5 gene to normal variation in peak BMD in women

scientific article published on 25 October 2004

Conventional Therapy in Adults With XLH Improves Dental Manifestations, But Not Enthesopathy

scientific article

Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis

scientific article published on 18 October 2011

Discordance for X-linked hypophosphataemic rickets in identical twin girls

scientific article published on 04 March 2009

Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties

scientific article published on 01 July 2006

Disentangling the genetics of lean mass

article

Disorders of phosphate metabolism.

scientific article

Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia

scientific article published on 23 May 2013

Effect of raloxifene after recombinant teriparatide [hPTH(1-34)] treatment in postmenopausal women with osteoporosis

scientific article published on 16 October 2007

Efficient and stable gene expression into human osteoclasts using an HIV-1-based lentiviral vector

scientific article

Epistasis between QTLs for bone density variation in Copenhagen x dark agouti F2 rats

scientific article published on 20 January 2009

Epistatic effects contribute to variation in BMD in Fischer 344 x Lewis F2 rats

scientific article published on January 2008

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects

scientific article

Evaluation of vertebral fracture assessment by dual X-ray absorptiometry in a multicenter setting

scientific article

FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

scientific article

FGF-23 is elevated by chronic hyperphosphatemia

scientific article published in September 2004

FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets

scientific article published in April 2007

FGF23 is processed by proprotein convertases but not by PHEX.

scientific article published on August 2004

False positive rates in association studies as a function of degree of stratification

scientific article published on 19 April 2004

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia

scientific article published in April 2003

Fibroblast growth factor 23: roles in health and disease

scientific article

Fibrous dysplasia, phosphate wasting and fibroblast growth factor 23.

scientific article published on August 2007

Fine mapping of bone structure and strength QTLs in heterogeneous stock rat.

scientific article

Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models

scientific article

Genetic Variants Associated with Circulating Parathyroid Hormone

scientific article published on 07 December 2016

Genetic diseases resulting from disordered FGF23/klotho biology

scientific article

Genetic loci affecting bone structure and strength in inbred COP and DA rats

scientific article published on 28 November 2007

Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse

scientific article

Genetics of familial tumoral calcinosis

scientific article published on 01 March 2009

Genetics of osteoporosis

scientific article published on 01 June 2002

Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis

scientific article published on 01 September 2000

Genome screen for bone mineral density phenotypes in Fisher 344 and Lewis rat strains

scientific article published in August 2005

Genome screen for quantitative trait loci underlying normal variation in femoral structure

scientific article published on 01 June 2001

Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women

scientific article

Genome-wide association study of serum iron phenotypes in premenopausal women of European descent

scientific article published on 3 December 2015

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

scientific article

Genomic expression analysis of rat chromosome 4 for skeletal traits at femoral neck

scientific article published on 26 August 2008

Heritability of changes in bone size and bone mass with age in premenopausal white sisters

scientific article published in July 2006

Heterogeneity in Paget disease of the bone

scientific article published on 01 June 2000

Heterogeneous stock rat: a unique animal model for mapping genes influencing bone fragility

scientific article

High-resolution genome screen for bone mineral density in heterogeneous stock rat.

scientific article

Human ALOX12, but Not ALOX15, Is Associated With BMD in White Men and Women

article

Hypophosphatemia, osteomalacia and proximal muscle weakness treated by surgery

scientific article published on 01 June 2003

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis

scientific article published on 09 October 2009

Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis

scientific article

Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women

scientific article published on October 2008

Identification of a quantitative trait locus on rat chromosome 4 that is strongly linked to femoral neck structure and strength

scientific article published on 03 February 2006

Identification of genes influencing skeletal phenotypes in congenic P/NP rats

scientific article

Interferon Gamma, but not Calcitriol Improves the Osteopetrotic Phenotypes in ADO2 Mice

scientific article published on 5 May 2015

Introduction to skeletal genetics

scientific article published on 01 October 2008

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria

scientific article published on 18 July 2006

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

scientific article published on 29 October 2013

Iron and fibroblast growth factor 23 in X-linked hypophosphatemia

scientific article published on 08 December 2013

Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans

scientific article

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Linkage of structure at the proximal femur to chromosomes 3, 7, 8, and 19

scientific article published on 01 June 2003

Linkage screen for BMD phenotypes in male and female COP and DA rat strains

scientific article published on September 2008

MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia

scientific article

Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers

scientific article

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

scientific article

Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women

scientific article published on March 2013

Meta‐Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry

scientific article published on 19 March 2019

Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene

scientific journal article

Mosaicism in osteopathia striata with cranial sclerosis

scientific article

Most osteomalacia-associated mesenchymal tumors are a single histopathologic entity: an analysis of 32 cases and a comprehensive review of the literature

scientific article published on January 2004

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

scientific article published on 18 June 2008

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

scientific article

New insights into the pathogenesis of inherited phosphate wasting disorders.

scientific article

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

article

NovelGALNT3Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

scientific article published in May 2007

Osteoblast-Specific Overexpression of Human WNT16 Increases Both Cortical and Trabecular Bone Mass and Structure in Mice

scientific article published on 19 November 2015

Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).

scientific article published on 11 March 2004

Osteopetroses, emphasizing potential approaches to treatment

scientific article published in September 2017

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Peak bone mineral density at the hip is linked to chromosomes 14q and 15q

scientific article published on 16 March 2004

Persistent tumor-induced osteomalacia confirmed by elevated postoperative levels of serum fibroblast growth factor-23 and 5-year follow-up of bone density changes

scientific article

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

scientific article published on 10 May 2016

Phosphaturic mesenchymal tumor, mixed connective tissue variant, of the mandible: report of a case and review of the literature

scientific article published on 14 October 2009

Polymorphisms in the bone morphogenetic protein 2 (BMP2) gene do not affect bone mineral density in white men or women

scientific article published on 24 January 2006

Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women

scientific article

Renal phosphate wasting disorders: clinical features and pathogenesis

scientific article published on January 2004

Replication of previous genome-wide association studies of bone mineral density in premenopausal American women

scientific article

Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna

scientific article

SIBLING family genes and bone mineral density: association and allele-specific expression in humans

scientific article

Sensitivity of Fibroblast Growth Factor 23 Measurements in Tumor-Induced Osteomalacia

scientific article published on 21 March 2006

Serum fibroblast growth factor 23, serum iron and bone mineral density in premenopausal women

scientific article published on 7 March 2016

Sex-specific and non-sex-specific quantitative trait loci contribute to normal variation in bone mineral density in men

scientific article published on 01 March 2005

Sex-specific genetic loci for femoral neck bone mass and strength identified in inbred COP and DA rats

scientific article published on June 2008

Sex-specific quantitative trait loci contribute to normal variation in bone structure at the proximal femur in men

scientific article

Sib pair linkage and association studies between bone mineral density and the interleukin-6 gene locus

scientific article published on 01 July 2000

Sibling pair linkage and association studies between bone mineral density and the insulin-like growth factor I gene locus

scientific article published in December 1999

Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13

scientific article published on 01 August 2002

The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting

scientific article (publication date: February 2001)

The genetics of absorptive hypercalciuria--a note of caution

scientific article published on 01 April 2002

The roles of specific genes implicated as circulating factors involved in normal and disordered phosphate homeostasis: frizzled related protein-4, matrix extracellular phosphoglycoprotein, and fibroblast growth factor 23.

scientific article

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Treatment of X-linked hypophosphatemia with calcitriol and phosphate increases circulating fibroblast growth factor 23 concentrations

scientific article

Tumor-induced rickets: usefulness of MR gradient echo recall imaging for tumor localization

scientific article published in March 2004

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

scientific article

Whole-genome scan for linkage to bone strength and structure in inbred Fischer 344 and Lewis rats

scientific article published on 23 May 2005

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

scientific article

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