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Academic Journal

Establishing a human-induced pluripotent stem cell line SMUSHi005-A from a patient with hypophosphatemic vitamin D-resistant rickets carrying the PHEX c.1586-1586+1 delAG mutation.

  • Authors : Li X; Department of Nephrology, Fuyang People's Hospital, Anhui Medical University, Fuyang, Anhui, China.; Ma Y

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/genetics ; Mutation*

  • Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103439. Date of Electronic Publication: 2024 May 09.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Familial cases with adult-onset FGF23-related hypophosphatemic osteomalacia -A PHEX 3'-UTR change as a possible cause.

  • Authors : Sawatsubashi S; Department of Molecular Endocrinology, Fujii Memorial Institute of Medical Sciences, Tokushima University, Tokushima, Japan; Research and Innovation Liaison Office, Institute for Advanced Medical Sciences, Tokushima University, Tokushima, Japan.

Subjects: Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/genetics ; Osteomalacia*/Osteomalacia*/Osteomalacia*/genetics ; PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/genetics

  • Source: Bone [Bone] 2024 May; Vol. 182, pp. 117057. Date of Electronic Publication: 2024 Feb 25.Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Calcium‑dependent activation of PHEX, MEPE and DMP1 in osteocytes.

  • Authors : Donmez BO; Department of Anatomy, School of Medicine, Pamukkale University, Denizli 20160, Turkey.; Karagur ER

Subjects: Osteocytes*/Osteocytes*/Osteocytes*/metabolism ; PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/genetics ; PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/metabolism

  • Source: Molecular medicine reports [Mol Med Rep] 2022 Dec; Vol. 26 (6). Date of Electronic Publication: 2022 Oct 25.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets.

  • Authors : Tavana N; Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, UPM Serdang, Selangor, Malaysia.; Ting TH

Subjects: PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/genetics ; Phosphates* ; Rickets, Hypophosphatemic*/Rickets, Hypophosphatemic*/Rickets, Hypophosphatemic*/genetics

  • Source: Italian journal of pediatrics [Ital J Pediatr] 2022 Dec 08; Vol. 48 (1), pp. 193. Date of Electronic Publication: 2022 Dec 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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Academic Journal

PHEX L222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.

  • Authors : El Hakam C; INSERM U1094, INRAE USC1501, IRD U270, EpiMaCT-Epidemiology of Chronic Diseases in Tropical Zone, Univ. Limoges, 2 Rue Pr Descottes, F-87000 Limoges, France.; Parenté A

Subjects: Fibroblast Growth Factors*/Fibroblast Growth Factors*/Fibroblast Growth Factors*/genetics; PHEX Phosphate Regulating Neutral Endopeptidase/PHEX Phosphate Regulating Neutral Endopeptidase/PHEX Phosphate Regulating Neutral Endopeptidase/*genetics; Animals

  • Source: Genes [Genes (Basel)] 2022 Jul 28; Vol. 13 (8). Date of Electronic Publication: 2022 Jul 28.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.

  • Authors : Lin Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Rd., Guangzhou, 510623, China.; Zhang W

Subjects: Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/genetics ; Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/genetics ; PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/genetics

  • Source: Calcified tissue international [Calcif Tissue Int] 2022 Feb; Vol. 110 (2), pp. 266-271. Date of Electronic Publication: 2021 Sep 06.Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Subjects: Databases, Genetic* ; Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/genetics ; Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/genetics

  • Source: Human mutation [Hum Mutat] 2022 Feb; Vol. 43 (2), pp. 143-157. Date of Electronic Publication: 2021 Dec 05.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.

  • Authors : Li B; Institute for Translational Medicine, Qingdao University, Qingdao, China.; Wang X

Subjects: Mutation, Missense*; Familial Hypophosphatemic Rickets/Familial Hypophosphatemic Rickets/Familial Hypophosphatemic Rickets/*genetics ; PHEX Phosphate Regulating Neutral Endopeptidase/PHEX Phosphate Regulating Neutral Endopeptidase/PHEX Phosphate Regulating Neutral Endopeptidase/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Aug; Vol. 8 (8), pp. e1262. Date of Electronic Publication: 2020 Jun 08.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mineralized tissues in hypophosphatemic rickets.

  • Authors : Robinson ME; Shriners Hospital for Children and McGill University, 1003 Boulevard Decarie, Montreal, Québec, H4A 0A9, Canada.; AlQuorain H

Subjects: Familial Hypophosphatemic Rickets/Familial Hypophosphatemic Rickets/Familial Hypophosphatemic Rickets/*pathology ; Fibroblast Growth Factors/Fibroblast Growth Factors/Fibroblast Growth Factors/*metabolism ; Osteomalacia/Osteomalacia/Osteomalacia/*pathology

  • Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2020 Oct; Vol. 35 (10), pp. 1843-1854. Date of Electronic Publication: 2019 Aug 08.Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

  • Authors : Smith PS; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA.; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Washington University School of Medicine at St. Louis Children's Hospital, St. Louis, MO, USA.

Subjects: Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/Familial Hypophosphatemic Rickets*/genetics ; Hypophosphatemia* ; PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/PHEX Phosphate Regulating Neutral Endopeptidase*/genetics

  • Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2020 May; Vol. 35 (5), pp. 920-931. Date of Publisher: Oxford University Press Country of Publication: United States NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet

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  • 1-10 of  468 results for ""PHEX Phosphate Regulating Neutral Endopeptidase""