Keywords (1)

Autosomal Recessive

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets,10.1016/j.a

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Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets (Citations: 13)


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Journal: American Journal of Human Genetics - AMER J HUM GENET , vol. 86, no. 2, pp. 267-272, 2010

DOI: 10.1016/j.ajhg.2010.01.006

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Citation Context (6)

- ..., ...
Xiaofang Wang, et al. Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphat...
- ..., ...
Xia Zhao, et al. A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide...
- ...X-linked hypophosphatemic rickets (XLH; MIM 307800, 307810) is caused by mutations in the PHEX gene located at Xp22.1 [3], autosomal dominant hypophosphatemic rickets (MIM 193100) is caused by mutations in the FGF23 gene [4], autosomal recessive hypophosphatemic rickets (MIM 600980) is caused by mutations in the DMP1 [5, 6 ]o rENPP1 [7, 8] gene, and autosomal recessive hypophosphatemic rickets with hypercalciuria (HHRH) is caused by ...
- ...The lower mutation detection rate in apparently sporadic cases might reflect nongenetic causes of renal phosphaturia, autosomal recessive forms of hypophosphatemic rickets due to mutations in the DMP1 [5, 6 ]o rENPP1 [7, 8] gene, or the presence of de novo mutations in the FGF23 gene [4]...
Tjin-Shing Jap, et al. Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypoph...
- ... linked to phosphaturia that reflects the newly recognized physiologic role of ENPP1 in renal tubular phosphate handling [...
Denise L. Cecil, et al. Arterial Calcification Is Driven by RAGE in Enpp1–/– Mice
- ...Loss-of-function mutations of the ENPP1 gene, which is reportedly expressed in osteocytes, have been found in patients with ARHR [62, 63]...
- ...ARHR patients with an ENPP1 mutation presented with normal levels of FGF23, PTH and vitamin D metabolites [62, 63], suggesting that ENPP1 may function locally in matrix mineralization...
Ken Watanabe, et al. Osteocytes in Normal Physiology and Osteoporosis

References (13)

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis (Citations: 80)

, , , , , , , , , , , http://academic.research.microsoft.com/io.ashx?type=5&id=37052932&selfId1=0&selfId2=0&maxNumber=12&query=

Journal: Nature Genetics - NAT GENET , vol. 38, no. 11, pp. 1248-1250, 2006

Endocrine functions of bone in mineral metabolism regulation (Citations: 52)

Journal: Journal of Clinical Investigation - J CLIN INVEST , vol. 118, no. 12, pp. 3820-3828, 2008

PHEX, FGF23, DMP1 and beyond (Citations: 20)

Journal: Current Opinion in Nephrology and Hypertension - CURR OPIN NEPHROL HYPERTENS , vol. 17, no. 4, pp. 357-362, 2008

Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family (Citations: 71)

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Journal: Biochimica Et Biophysica Acta-molecular Basis of Disease - BBA-MOL BASIS DIS , vol. 1638, no. 1, pp. 1-19, 2003

The Role of Membrane Glycoprotein Plasma Cell Antigen 1/Ectonucleotide Pyrophosphatase Phosphodiesterase 1 in the Pathogenesis of Insulin Resistance and Related Abnormalities (Citations: 17)

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Journal: Endocrine Reviews - ENDOCRINE REV , vol. 29, no. 1, pp. 62-75, 2007

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Citations (13)

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

, , , , , , , , , , , http://academic.research.microsoft.com/io.ashx?type=5&id=57409895&selfId1=0&selfId2=0&maxNumber=12&query=

Journal: PLOS Genetics - PLOS GENET , vol. 8, no. 5, 2012

Is There a Real Benefit to Dialysis Patients Undergoing Cardiac Surgery?

, , , , ,

Journal: Heart Lung and Circulation - HEART LUNG CIRC , vol. 20, no. 1, pp. 53-54, 2011

A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide Association Study Is Responsible for Inherited Rickets in Corriedale Sheep

, , , , , ,

Journal: PLOS One , vol. 6, no. 7, 2011

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability

, , ,

Journal: Calcified Tissue International - CALCIFIED TISSUE INT , vol. 88, no. 5, pp. 370-377, 2011

Arterial Calcification Is Driven by RAGE in Enpp1–/– Mice

Journal: Journal of Vascular Research - J VASC RES , vol. 48, pp. 227-235, 2011


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Keywords (1)

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets,10.1016/j.a

Xiaofang Wang, et al. Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphat...

Xia Zhao, et al. A Novel Nonsense Mutation in the DMP1 Gene Identified by a Genome-Wide...

Tjin-Shing Jap, et al. Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypoph...

Denise L. Cecil, et al. Arterial Calcification Is Driven by RAGE in Enpp1–/– Mice

Ken Watanabe, et al. Osteocytes in Normal Physiology and Osteoporosis

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis (Citations: 80)

Endocrine functions of bone in mineral metabolism regulation (Citations: 52)

PHEX, FGF23, DMP1 and beyond (Citations: 20)

Physiological and pathophysiological functions of the ecto-nucleotide pyrophosphatase/phosphodiesterase family (Citations: 71)

The Role of Membrane Glycoprotein Plasma Cell Antigen 1/Ectonucleotide Pyrophosphatase Phosphodiesterase 1 in the Pathogenesis of Insulin Resistance and Related Abnormalities (Citations: 17)