Results 61 to 70 of about 6,876 (236)

X-linked hypophosphatemic rickets: a new mutation

Brazilian Journal of Nephrology, 2020
Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets.
Patrícia Maio, Lia Mano, Sara Rocha, Rute Baeta Baptista, Telma Francisco, Helena Sousa, João Parente Freixo, Margarida Abranches   +7 more
doaj   +2 more sources

Biology and Distribution of \u3ci\u3eTachysphex Aethiops\u3c/i\u3e in Michigan (Hymenoptera: Sphecidae: Larrinae) [PDF]

, 2017
Tachysphex aethiops is a primarily western species that also occurs in the Upper Peninsula of Michigan. Females nest in mossy, sand slopes and utilize pre-existing burrows of other insects.
O\u27Brien, Mark F
core   +2 more sources

Global Gene Expression Analysis Identifies Age-Related Differences in Knee Joint Transcriptome during the Development of Post-Traumatic Osteoarthritis in Mice. [PDF]

, 2020
Aging and injury are two major risk factors for osteoarthritis (OA). Yet, very little is known about how aging and injury interact and contribute to OA pathogenesis.
Christiansen, Blaine A, Hum, Nicholas R, Loots, Gabriela G, McCool, Jillian L, Mendez, Melanie E, Murugesh, Deepa K, Rios-Arce, Naiomy D, Sebastian, Aimy   +7 more
core   +2 more sources

Hypophosphatemic rickets: pathogenesis, diagnosis and treatment

Ожирение и метаболизм, 2018
Hypophosphatemic rickets (HR) - a group of diseases characterized by the development of ricketic changes in bone tissue due to increased excretion of phosphorus from the body.
Kristina S. Kulikova, Anatoly N. Tiulpakov   +1 more
doaj   +1 more source

De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab

Diagnostics, 2023
Pathogenic variants in the PHEX gene cause rare and severe X-linked dominant hypophosphataemia (XLH), a form of heritable hypophosphatemic rickets (HR) characterized by renal phosphate wasting and elevated fibroblast growth factor 23 (FGF23) levels ...
Carmine Pecoraro, Tiziana Fioretti, Assunta Perruno, Antonella Klain, Daniela Cioffi, Adelaide Ambrosio, Diego Passaro, Luigi Annicchiarico Petruzzelli, Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone, Fabio Cattaneo, Rosario Ammendola, Gabriella Esposito   +13 more
doaj   +1 more source

X-Linked Hypophosphatemia Attributable to Pseudoexons of the PHEX Gene [PDF]

Journal of Clinical Endocrinology & Metabolism, 2001
X-linked hypophosphatemia is commonly caused by mutations of the coding region of PHEX (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). However, such PHEX mutations are not detected in approximately one third of X-linked hypophosphatemia patients who may harbor defects in the noncoding or intronic regions.
Christie, P, Harding, B, Nesbit, M, Whyte, M, Thakker, R   +4 more
openaire   +3 more sources

Mechanical loading modulates phosphate related genes in rat bone

PLoS ONE, 2023
Mechanical loading determines bone mass and bone structure, which involves many biochemical signal molecules. Of these molecules, Mepe and Fgf23 are involved in bone mineralization and phosphate homeostasis.
Ashwini Kumar Nepal, Hubertus W. van Essen, Christianne M. A. Reijnders, Paul Lips, Nathalie Bravenboer   +4 more
doaj   +2 more sources

Genetic evidence of serum phosphate-independent functions of FGF-23 on bone [PDF]

, 2011
Maintenance of physiologic phosphate balance is of crucial biological importance, as it is fundamental to cellular function, energy metabolism, and skeletal mineralization.
Bergwitz, Clemens, Erben, Reinhold G., Kim, Somi, Lanske, Beate Klara Maria, Razzaque, Mohammed Shawkat, Schüler, Christiane, Sitara, Despina, Taguchi, Takashi   +7 more
core   +1 more source

PHEx: A Computational Tool for Plate Heat Exchangers Design Problems

Chemical Engineering Transactions, 2014
This paper presents a computational tool (PHEx) developed in Excel VBA for solving sizing and rating design problems involving Chevron type plate heat exchangers (PHE) with 1-pass-1-pass configuration. The rating methodology procedure used in the program is outlined, and a case study is presented with the purpose to show how the program can be used to ...
Palmeira, José, Fernandes, Cristina, Matos, Henrique A., Silva, João   +3 more
openaire   +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