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https://www.readbyqxmd.com/read/29040309/targeted-pth4-expressing-cell-ablation-impairs-skeletal-mineralization-in-zebrafish
#1
Paula Suarez-Bregua, Ankur Saxena, Marianne E Bronner, Josep Rotllant
Skeletal development and mineralization are essential processes driven by the coordinated action of neural signals, circulating molecules and local factors. Our previous studies revealed that the novel neuropeptide Pth4, synthesized by hypothalamic cells, was involved in bone metabolism via phosphate regulation in adult zebrafish. Here, we investigate the role of pth4 during skeletal development using single-cell resolution, two-photon laser ablation of Pth4:eGFP-expressing cells and confocal imaging in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28982589/identification-of-a-novel-loss-of-function-phex-mutation-ala720ser-in-a-sporadic-case-of-adult-onset-hypophosphatemic-osteomalacia
#2
Katarzyna Goljanek-Whysall, Andreas Tridimas, Rachel McCormick, Nicki-Jayne Russell, Melissa Sloman, Alan Sorani, William D Fraser, Fadil M Hannan
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some cases the underlying tumor is not detected, and such patients may harbor other causes of FGF23 excess. Indeed, coding-region and 3'UTR mutations of phosphate-regulating neutral endopeptidase (PHEX), which encodes a cell-surface protein that regulates circulating FGF23 concentrations, can lead to alterations in phosphate homeostasis, which are not detected until adulthood...
October 3, 2017: Bone
https://www.readbyqxmd.com/read/28981921/-mutational-analysis-and-prenatal-diagnosis-in-a-family-affected-with-hypophosphatemic-rickets
#3
Zhaotang Luan, Huanzheng Li, Lin Hu, Chong Chen, Xueqin Xu, Yanbao Xiang, Shaohua Tang
OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets. METHODS: Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28954742/outcomes-of-orthopedic-surgery-in-a-cohort-of-49-patients-with-x-linked-hypophosphatemic-rickets-xlhr
#4
A Gizard, A Rothenbuhler, Z Pejin, G Finidori, C Glorion, B de Billy, A Linglart, P Wicart
BACKGROUND: X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral vitamin analogs, partially or, in some cases, fully restore the limb straightness. Surgery is the alternative for severe or residual limb deformities. OBJECTIVE: To retrospectively assess the results of surgical limb correction in XLHR (osteotomies and bone alignment except for 3 transient hemiepiphysiodesis)...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28928248/carbonic-anhydrase-iii-protects-osteocytes-from-oxidative-stress
#5
Chao Shi, Yuhei Uda, Christopher Dedic, Ehab Azab, Ningyuan Sun, Amira I Hussein, Christopher A Petty, Keertik Fulzele, Maria C Mitterberger-Vogt, Werner Zwerschke, Renata Pereira, Kunzheng Wang, Paola Divieti Pajevic
Osteocytes are master orchestrators of bone remodeling; they control osteoblast and osteoclast activities both directly via cell-to-cell communication and indirectly via secreted factors, and they are the main postnatal source of sclerostin and RANKL (receptor activator of NF-kB ligand), two regulators of osteoblast and osteoclast function. Despite progress in understanding osteocyte biology and function, much remains to be elucidated. Recently developed osteocytic cell lines-together with new genome editing tools-has allowed a closer look at the biology and molecular makeup of these cells...
September 19, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28880715/defective-mineralization-in-x-linked-hypophosphatemia-dental-pulp-cell-cultures
#6
B R Coyac, B Hoac, P Chafey, G Falgayrac, L Slimani, P S Rowe, G Penel, A Linglart, M D McKee, C Chaussain, C Bardet
X-linked hypophosphatemia (XLH) is a skeletal disease caused by inactivating mutations in the PHEX gene. Mutated or absent PHEX protein/enzyme leads to a decreased serum phosphate level, which cause mineralization defects in the skeleton and teeth (osteomalacia/odontomalacia). It is not yet altogether clear whether these manifestations are caused solely by insufficient circulating phosphate availability for mineralization or also by a direct, local intrinsic effect caused by impaired PHEX activity. Here, we evaluated the local role of PHEX in a 3-dimensional model of extracellular matrix (ECM) mineralization...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28822957/two-year-recombinant-human-growth-hormone-rhgh-treatment-is-more-effective-in-pre-pubertal-compared-to-pubertal-short-children-with-x-linked-hypophosphatemic-rickets-xlhr
#7
Anya Rothenbuhler, Laure Esterle, Iva Gueorguieva, Jean-Pierre Salles, Brigitte Mignot, Michel Colle, Agnes Linglart
CONTEXT: Twenty-five to 40% of patients with well-controlled X-linked hypophosphatemic rickets (XLHR) have a final height under -2 SDS. Previous studies have shown that recombinant human growth hormone (rhGH) treatment improves linear growth in short children with XLHR. OBJECTIVE: We studied the effectiveness of rhGH treatment in children with XLHR in a larger cohort. DESIGN: Monocentric, prospective, non-randomized trial. SETTING: University hospital in France...
August 15, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/28764922/tissue-specific-mineralization-defects-in-the-periodontium-of-the-hyp-mouse-model-of-x-linked-hypophosphatemia
#8
Benjamin R Coyac, Guillaume Falgayrac, Brigitte Baroukh, Lotfi Slimani, Jérémy Sadoine, Guillaume Penel, Martin Biosse-Duplan, Thorsten Schinke, Agnès Linglart, Marc D McKee, Catherine Chaussain, Claire Bardet
X-linked hypophosphatemia (XLH) is a dento-osseous disorder caused by inactivating mutations in the PHEX gene, leading to renal phosphate wasting and hypophosphatemia, and impaired mineralization of bones and teeth. In the oral cavity, recent reports suggest a higher susceptibility of XLH patients to periodontitis, where patients present with impaired tooth cementum - a bone-like tissue involved in tooth attachment to the jaw bones and post-eruption tooth positioning - and a higher frequency of intrabony defects...
July 29, 2017: Bone
https://www.readbyqxmd.com/read/28728941/comparison-of-calcimimetic-r568-and-calcitriol-in-mineral-homeostasis-in-the-hyp-mouse-a-murine-homolog-of-x-linked-hypophosphatemia
#9
Maren Leifheit-Nestler, Julia Kucka, Emi Yoshizawa, Geert Behets, Patrick D'Haese, Christian Bergen, Martin Meier, Dagmar-Christiane Fischer, Dieter Haffner
X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)2D3 (1,25D) deficiency, rickets and osteomalacia. Here we studied the effects of calcimimetic R568 and calcitriol treatment in the Hyp mouse, a murine homolog of XLH. We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho axis and bone health...
July 18, 2017: Bone
https://www.readbyqxmd.com/read/28645356/-endocrine-control-of-serum-phosphate-from-the-discoveries-of-phosphatonins-to-novel-therapies
#10
A Linglart, C Chaussain
Phosphate is absorbed through the gut, stored in the bone and reabsorbed through the proximal renal tubule. More importantly, PTH and FGF23 have been identified as the main phosphaturic factors that control the expression of the phosphate co-transporters NaPi-IIa et IIc. By allowing the adjustment of the urinary phosphate reabsorption, these two phosphatonins play a major role in bone and tooth mineralization and growth. Recently, novel therapies have successfully targeted the FGF23 signaling pathway to treat the hypophosphatemia in patients affected with molecular defects of this pathway (mutations in the PHEX gene)...
October 2016: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28603101/pancreatic-head-excavation-for-tissue-diagnosis-may-reduce-unnecessary-pancreaticoduodenectomies-in-the-setting-of-chronic-pancreatitis
#11
Alessandro Fancellu, Giorgio C Ginesu, Claudio F Feo, Maria L Cossu, Marco Puledda, Antonio Pinna, Alberto Porcu
BACKGROUND: The necessity to obtain a tissue diagnosis of cancer prior to pancreatic surgery still remains an open debate. In fact, a non-negligible percentage of patients undergoing pancreaticoduodenectomy (PD) for suspected cancer has a benign lesion at final histology. We describe an approach for patients with diagnostic uncertainty between cancer and chronic pancreatitis, with the aim of minimizing the incidence of PD for suspicious malignancy finally diagnosed as benign disease. METHODS: Eighty-eight patients (85...
June 2017: Hepatobiliary & Pancreatic Diseases International: HBPD INT
https://www.readbyqxmd.com/read/28507207/role-of-osteocytes-in-mediating-bone-mineralization-during-hyperhomocysteinemia
#12
Viji Vijayan, Sarika Gupta
Hyperhomocysteinemia (HHCY) is a risk factor for osteoporosis but whether HHCY affects bone mineralization or not is still ambiguous. Herein we evaluated whether homocysteine affects tissue mineral density (TMD) of cortical bone and if so the role of osteocytes. CD1 mice administered with homocysteine (5 mg/100 g body weight, i.p.) for 7, 15 and 30 days showed temporal changes in TMD and osteocyte lacunar density in femoral cortices. Short-term administration of homocysteine (day 7) increased osteocyte lacunar density and reduced TMD evidenced by microCT50 while prolonged administration of homocysteine (day 30) reinstated TMD and lacunar density to baseline values...
June 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28506344/-novel-phex-gene-mutations-in-patients-with-x-linked-hypophosphatemic-rickets-an-analysis-of-2-cases
#13
Qing Ran, Feng Xiong, Min Zhu, Lei-Li Deng, Pei-Yun Lei, Yan-Hong Luo, Yan Zeng, Gao-Hui Zhu, Cui Song
OBJECTIVE: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology. METHODS: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH. PCR-Sanger sequencing was used to verify the distribution of mutations in families. RESULTS: Both patients had novel mutations in the PHEX gene; one patient had a frameshift mutation, c...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28440087/cervical-dural-calcification-and-cervical-myelopathy-in-x-linked-hypophosphataemic-rickets-a-case-report-and-review-of-the-literature
#14
Ali A Najefi, Daniel B Beder, Shiraz A Sabah, Kia Rezajooi
X-linked hypophosphataemic rickets (XLHR) is a genetic disorder resulting from a genetic mutation in the PHEX gene. This may cause ossification of soft tissue structures risking spinal cord compression. We present the first known case of cervical dural calcification secondary to XLHR to cause myelopathic symptoms due to cord compression.
April 25, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28406458/behavior-of-human-osteoblast-cells-cultured-on-titanium-discs-in-relation-to-surface-roughness-and-presence-of-melatonin
#15
M Fernanda Sola-Ruiz, Carolina Perez-Martinez, Carlos Labaig-Rueda, Carmen Carda, J Javier Martín De Llano
The aim of this work was to observe the behavior of osteoblast cells cultured in vitro on titanium discs in relation to disc surface roughness and the addition of melatonin to the culture medium. MG63 osteoblast cells were cultivated on 120 Grade 5 Ti divided into three groups: Group E, treated with dual acid etch; Group EP, treated with dual acid etch and calcium phosphate; and Group M, machined. Surface roughness was examined under a laser scanning confocal microscope (CLSM) and scanning electron microscopy (SEM)...
April 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28397222/-identification-of-a-novel-splicing-mutation-of-phex-gene-in-a-pedigree-affected-with-x-linked-hypophosphatemia
#16
Jie Li, Peiwen Xu, Sexin Huang, Ming Gao, Yang Zou, Ranran Kang, Yuan Gao
OBJECTIVE: To identify potential mutation of PHEX gene in two patients from a family affected with X-linked hypophosphatemia (XLH). METHODS: PCR and Sanger sequencing were performed on blood samples from the patients and 100 healthy controls. Reverse transcription-PCR (RT-PCR) was used to determine the mRNA expression in patient samples. RESULTS: A splicing site mutation, IVS21+2T>G, was found in the PHEX gene in both patients but not among the 100 healthy controls...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28383812/mutational-analysis-of-phex-fgf23-and-clcn5-in-patients-with-hypophosphataemic-rickets
#17
Ayla Guven, Roua A Al-Rijjal, Huda A BinEssa, Durmuş Dogan, Yılmaz Kor, Minjing Zou, Namik Kaya, Anwar F Alenezi, Suna Hancili, Ömer Tarım, Essa Y Baitei, Walaa E Kattan, Brian F Meyer, Yufei Shi
CONTEXT: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. OBJECTIVE: To investigate underlying genetic defects in patients with hypophosphataemic rickets. METHODS: We analysed genomic DNA from nine unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3 by PCR sequencing and copy number analysis...
July 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28382624/cinacalcet-as-an-alternative-to-phosphate-therapy-in-x-linked-hypophosphataemic-rickets
#18
LETTER
Uri S Alon, Dale Jarka, Penny J Monachino, Judith Sebestyen VanSickle, Tarak Srivastava
No abstract text is available yet for this article.
April 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28377980/the-metabolic-bone-disease-associated-with-the-hyp-mutation-is-independent-of-osteoblastic-hif1%C3%AE-expression
#19
Julia M Hum, Erica L Clinkenbeard, Colin Ip, Taryn A Cass, Matt Allen, Kenneth E White
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 models and in humans. The disorder X-linked hypophosphatemia (XLH) is characterized by elevated FGF23 in concert with an intrinsic bone mineralization defect. Indeed, the Hyp mouse XLH model has disturbed osteoblast to osteocyte differentiation with altered expression of a wide variety of genes, including FGF23...
June 2017: Bone Reports
https://www.readbyqxmd.com/read/28194480/evaluation-of-bone-mineral-density-and-microarchitectural-parameters-by-dxa-and-hr-pqct-in-37-children-and-adults-with-x-linked-hypophosphatemic-rickets
#20
G P Colares Neto, R M R Pereira, J C Alvarenga, L Takayama, M F A Funari, R M Martin
In X-linked hypophosphatemic (XLH) rickets, dual-energy X-ray absorptiometry (DXA) measurements must be analyzed with caution. High-resolution peripheral quantitative computed tomography (HR-pQCT) analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex. INTRODUCTION: The purpose of this study is to evaluate bone mineral density (BMD) and microarchitecture in 37 patients (13 children and 24 adults) with XLH confirmed by PHEX mutations from a tertiary center compared to healthy controls...
May 2017: Osteoporosis International
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