Results 81 to 90 of about 6,876 (236)

Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets. [PDF]

JBMR Plus
Alzoebie L, Li D, Wang X, Weber DR, Levine MA.   +4 more
europepmc   +3 more sources

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene [PDF]

European Journal of Endocrinology, 2009
ContextX-linked hypophosphatemic rickets/osteomalacia (XLH), autosomal dominant and recessive hypophosphatemic rickets/osteomalacia (ADHR and ARHR) share common clinical features including high fibroblast growth factor 23 (FGF23) levels. These diseases are caused by mutations in phosphate regulating endopeptidase homolog, X-linked (PHEX), FGF23, and ...
Tasuku, Saito, Yutaka, Nishii, Toshiyuki, Yasuda, Nobuaki, Ito, Hisanori, Suzuki, Takashi, Igarashi, Seiji, Fukumoto, Toshiro, Fujita   +7 more
openaire   +2 more sources

Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia

Frontiers in Endocrinology, 2022
ObjectiveThe aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of PHEX gene mutations, of 22 and 7 patients with familial ...
Tian Xu, Xiaohui Tao, Zhenlin Zhang, Hua Yue   +3 more
doaj   +1 more source

The metabolic bone disease associated with the Hyp mutation is independent of osteoblastic HIF1α expression [PDF]

, 2017
Fibroblast growth factor-23 (FGF23) controls key responses to systemic phosphate increases through its phosphaturic actions on the kidney. In addition to stimulation by phosphate, FGF23 positively responds to iron deficiency anemia and hypoxia in rodent ...
Allen, Matt, Cass, Taryn A., Clinkenbeard, Erica L., Hum, Julia M., Ip, Colin, White, Kenneth E.   +5 more
core   +3 more sources

Disrupted Protein Expression and Altered Proteolytic Events in Hypophosphatemic Dentin Can Be Rescued by Dentin Matrix Protein 1

Frontiers in Physiology, 2020
Dentin, one of the four mineralized tissues of the craniofacial complex, forms sequentially from the deposition of an organic matrix to the nucleation of an inorganic phase within the matrix scaffold.
Elizabeth Guirado, Yinghua Chen, Ryan D. Ross, Youbin Zhang, Catherine Chaussain, Catherine Chaussain, Anne George   +6 more
doaj   +1 more source

Lysophosphatidic Acid Synergizes With 1,25‐Dihydroxyvitamin D to Promote Fibroblast Growth Factor‐23 Synthesis via MAPK Signaling and Induction of the IL12A Gene

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
Ay et al. investigated the cellular mechanisms behind the role of lysophosphatidic acid (LPA) in FGF23 production. They revealed that LPA cooperates with 1,25‐dihydroxyvitamin D (1,25D), that is, the bioactive form of vitamin D known to stimulate FGF23 synthesis. This synergy entails MAPK signaling and the induction of the gene encoding the interleukin‐
Birol Ay, Sajin Marcus Cyr, Yorihiro Iwasaki, Elizabeth Hill, Eugene P. Rhee, Nevil J. Singh, Petra Simic, Murat Bastepe   +7 more
wiley   +1 more source

Molecular and Biochemical Aspects of Hypophosphatemic Rickets: An Updated Review [PDF]

International Journal of Basic Science in Medicine, 2017
Rickets is associated with aberrant mineralization in growth plates leading to the deformity of bone structure. The two main types of rickets are phosphopenic and calcipenic rickets. Phosphopenic rickets is found in a variety of sorts; the most common is
Fateme Asadzadeh Manjili, Mohammad Hosein Bakhshi Aliabad, Seyed Mehdi Kalantar, Afsaneh Sahebzamani, Amin Safa   +4 more
doaj   +1 more source

Off-design operation of ORC engines with different heat exchanger architectures in waste heat recovery applications [PDF]

, 2019
Organic Rankine cycle (ORC) engines in waste-heat recovery applications experience variable heat-source conditions (i.e. temperature and mass flow rate variations).
Chatzopoulou, Maria Anna, De Paepe, Michel, Lecompte, Steven, Markides, Christos N.   +3 more
core   +2 more sources

Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1 [PDF]

The Journal of Clinical Endocrinology & Metabolism, 1998
Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a 749-amino acid protein that putatively ...
Peter H. Dixon, Paul T. Christie, Carol Wooding, Dorothy Trump, Marvin Grieff, Ingrid Holm, Joseph M. Gertner, Jorg Schmidtke, Binita Shah, Nicholas Shaw, Colin Smith, Christina Tau, David Schlessinger, Michael P. Whyte, Rajesh V. Thakker   +14 more
openaire   +1 more source