Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets

scientific article published on 18 April 2015

Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1515/JPEM-2014-0366
P698PubMed publication ID25894638

P2093author name stringKaruppiah Thilakavathy
Nurul Nadirah Razali
Ting Tzer Hwu
P2860cites workMEPE, a new gene expressed in bone marrow and tumors causing osteomalaciaQ24290092
Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agentQ24319643
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.Q24540520
Database resources of the National Center for Biotechnology InformationQ24683601
Phosphate homeostasis and its role in bone healthQ28265843
Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formationQ33591785
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemiaQ33636748
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic ricketsQ33645895
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 geneQ33645954
Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.Q34014158
Primer-BLAST: a tool to design target-specific primers for polymerase chain reactionQ34307627
Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutationQ35156029
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humansQ35497877
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.Q35728669
Fibroblast growth factor 23: a phosphatonin regulating phosphate homeostasis?Q35806103
A clinical and molecular genetic study of hypophosphatemic rickets in childrenQ36213739
A role for surface hydrophobicity in protein-protein recognitionQ36278536
FGF23 is a hormone-regulating phosphate metabolism--unique biological characteristics of FGF23.Q36727664
Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic ricketsQ36963886
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic ricketsQ37160599
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic ricketsQ37222267
Latest findings in phosphate homeostasisQ37384718
Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthoodQ37406152
Hypophosphatemia: the common denominator of all ricketsQ37510688
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatmentQ37958645
Novel and de novo PHEX mutations in patients with hypophosphatemic ricketsQ38053247
PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic ricketsQ38118202
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutationQ39033165
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant proteinQ40790516
The PEX gene: not a simple answer for X-linked hypophosphataemic rickets and oncogenic osteomalaciaQ41607810
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemiaQ44414604
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.Q51439655
Familial hypophosphatemic vitamin D-resistant rickets--prevention of spontaneous dental abscesses on primary teeth: a case report.Q51834026
RicketsQ54297574
Hypophosphatemic ricketsQ56627579
P433issue9-10
P304page(s)1009-1017
P577publication date2015-04-18
P1433published inJournal of Pediatric Endocrinology and MetabolismQ6295720
P1476titlePhosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
P478volume28

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cites work (P2860)
Q52673977Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
Q49490282Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia.
Q52687353Genetic Causes of Rickets.
Q47409527The impact of rickets on growth and morbidity during recovery among children with complicated severe acute malnutrition in Kenya: A cohort study.
Q39107200X-linked hypophosphatemia and growth.

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