Results 71 to 80 of about 5,354 (221)

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice [PDF]

Mammalian Genome, 2004
X-linked hypophosphatemic rickets (XLH) in humans is caused by mutation in the PHEX gene. Previously, three mutations in the mouse Phex gene have been reported: Phex(Hyp), Gy, and Phex(Ska1). Here we report analysis of two new spontaneous mutation in the mouse Phex gene, Phex(Hyp-2J) and Phex(Hyp-Duk).
Lorenz, Depiereux B, Guido, V E, Johnson, K R, Zheng, Q Y, Gagnon, L H, Bauschatz, J D, Davisson, M T, Washburn, L L, Donahue, L R, Strom, T M, Eicher, E M   +10 more
openaire   +3 more sources

MiR-539-3p impairs osteogenesis by suppressing Wnt interaction with LRP-6 co-receptor and subsequent inhibition of Akap-3 signaling pathway

Frontiers in Endocrinology, 2022
X-linked hypophosphatemia (XLH), an inheritable form of rickets is caused due to mutation in Phex gene. Several factors are linked to the disease’s aetiology, including non-coding RNA molecules (miRNAs), which are key post-transcriptional regulators of ...
Alok Tripathi, Alok Tripathi, Aijaz A. John, Deepak Kumar, Deepak Kumar, Saurabh Kumar Kaushal, Saurabh Kumar Kaushal, Devendra Pratap Singh, Devendra Pratap Singh, Nazim Husain, Jayanta Sarkar, Jayanta Sarkar, Divya Singh, Divya Singh   +13 more
doaj   +1 more source

New insights into NPP1 function:Lessons from clinical and animal studies [PDF]

, 2012
The recent elucidation of rare human genetic disorders resulting from mutations in ectonucleotide pyrophosphotase/phosphodiesterase (ENPP1), also known as plasma cell membrane glycoprotein 1 (PC-1), has highlighted the vital importance of this molecule ...
Huesa, C, Mackenzie, N C W, Macrae, V E, Rutsch, F   +3 more
core   +1 more source

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. [PDF]

PLoS ONE, 2015
Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located on the X-chromosome or by mutations in CLCN5, DMP1, ENPP1, FGF23, and SLC34A3. The aims of this
Sara L Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G Sampson, Vijay Kher, Sidharth K Sethi, Edgar A Otto   +6 more
doaj   +1 more source

Osteocytes and the pathogenesis of hypophosphatemic rickets

Frontiers in Endocrinology, 2022
Since phosphorus is a component of hydroxyapatite, its prolonged deprivation affects bone mineralization. Fibroblast growth factor 23 (FGF23) is essential for maintaining phosphate homeostasis and is mainly produced by osteocytes.
Miwa Yamazaki, Toshimi Michigami
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

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +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

Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X‐Linked Hypophosphatemia in Mice

Journal of Periodontal Research, EarlyView.
Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan, Bella Donnelly, José Luis Millán, Brian L. Foster   +3 more
wiley   +1 more source

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets

Case Reports in Genetics, 2015
X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with
Tetsuya Kawahara, Hiromi Watanabe, Risa Omae, Toshiyuki Yamamoto, Tetsuya Inazu   +4 more
doaj   +1 more source