Associated Papers
Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.
Al-Hamed MH et al.
Journal of the Endocrine Society, 2024
The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.
Ni X et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).
Bai X et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari S et al.
Genes, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.
Ni X et al.
Calcified Tissue International, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.
Gannagé-Yared MH et al.
Bone, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P et al.
Human Mutation, 2014
Nucleus-targeted Dmp1 transgene fails to rescue dental defects in Dmp1 null mice.
Lin SX et al.
International Journal of Oral Science, 2014
Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.
Feng JQ et al.
Bone, 2013
Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in hyp mice.
Karaplis AC et al.
Endocrinology, 2012
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
Beck-Nielsen SS et al.
Journal of Human Genetics, 2012
The biological function of DMP-1 in osteocyte maturation is mediated by its 57-kDa C-terminal fragment.
Lu Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.
Turan S et al.
Bone, 2010
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.
Farrow EG et al.
Bone, 2009
Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.
Bastepe M et al.
Reviews in Endocrine & Metabolic Disorders, 2008
Novel regulators of phosphate homeostasis and bone metabolism.
Jüppner H
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2007
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.
Feng JQ et al.
Nature Genetics, 2006
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Lorenz-Depiereux B et al.
Nature Genetics, 2006
The role of DMP1 in autosomal recessive hypophosphatemic rickets.
Farrow EG et al.
Journal of Musculoskeletal & Neuronal Interactions, 0