X-linked hypophosphatemia and FGF23-related hypophosphatemic diseases: prospect for new treatment

Y Kinoshita, S Fukumoto - Endocrine reviews, 2018 - academic.oup.com
Phosphate plays essential roles in many biological processes, and the serum phosphate
level is tightly controlled. Chronic hypophosphatemia causes impaired mineralization of the …

Genetics of diffuse idiopathic skeletal hyperostosis and ossification of the spinal ligaments

H Kato, DT Braddock, N Ito - Current Osteoporosis Reports, 2023 - Springer
Abstract Purpose of Review The study aims to provide updated information on the genetic
factors associated with the diagnoses 'Diffuse Idiopathic Skeletal Hyperostosis'(DISH),' …

Molecular diagnoses of X‐linked and other genetic hypophosphatemias: Results from a sponsored genetic testing program

ET Rush, B Johnson, S Aradhya… - Journal of Bone and …, 2020 - academic.oup.com
ABSTRACT X‐linked hypophosphatemia (XLH), a dominant disorder caused by pathogenic
variants in the PHEX gene, affects both sexes of all ages and results in elevated serum …

Catalogue for transmission genetics in Arabs (CTGA) database: analysing Lebanese data on genetic disorders

S Bizzari, P Nair, A Deepthi, S Hana, MT Al-Ali… - Genes, 2021 - mdpi.com
Lebanon has a high annual incidence of birth defects at 63 per 1000 live births, most of
which are due to genetic factors. The Catalogue for Transmission Genetics in Arabs (CTGA) …

Variation in genes controlling warfarin disposition and response in American Indian and Alaska Native people: CYP2C9:: VKORC1:: CYP4F2:: CYP4F11:: GGCX

AE Fohner, R Robinson, J Yracheta… - Pharmacogenetics …, 2015 - journals.lww.com
Objectives Pharmacogenetic testing is projected to improve health outcomes and reduce the
cost of care by increasing therapeutic efficacy and minimizing drug toxicity. American Indian …

Genetic contribution to variation in blood calcium, phosphorus, and alkaline phosphatase activity in pigs

H Reyer, M Oster, D Wittenburg, E Murani… - Frontiers in …, 2019 - frontiersin.org
Blood values of calcium (Ca), inorganic phosphorus (IP), and alkaline phosphatase activity
(ALP) are valuable indicators for mineral status and bone mineralization. The mineral …

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and …

MP Whyte, SD Amalnath, WH McAlister, MD McKee… - Bone, 2020 - Elsevier
The SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and
comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 …

Sclerostin antibody (Scl-Ab) improves osteomalacia phenotype in dentin matrix protein 1 (Dmp1) knockout mice with little impact on serum levels of phosphorus and …

Y Ren, X Han, Y Jing, B Yuan, H Ke, M Liu, JQ Feng - Matrix Biology, 2016 - Elsevier
Unlike treatments for most rickets, the treatment using 1, 25-(OH) 2 vitamin D3 has little
efficacy on patients with hypophosphatemic rickets, a set of rare genetic diseases. Thus …

Clinical characteristics and bone features of autosomal recessive hypophosphatemic rickets type 1 in three Chinese families: report of five Chinese cases and review …

X Ni, X Li, Q Zhang, C Liu, Y Gong, O Wang… - Calcified tissue …, 2020 - Springer
Autosomal recessive hypophosphatemic rickets type 1 (ARHR1) was reported to be caused
by homozygous mutation of dentin matrix protein 1 (DMP1). To date, very few cases have …

CATCHing putative causative variants in consanguineous families

FA Santoni, P Makrythanasis, SE Antonarakis - BMC bioinformatics, 2015 - Springer
Background Consanguinity is an important risk factor for autosomal recessive (AR)
disorders. Extended genomic regions identical by descent (IBD) in the offspring of …