Results 41 to 50 of about 4,164 (178)

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

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

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton

Advanced Science, EarlyView.
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Lucie E. Bourne, Aikta Sharma, Scott Dillon, Jacob Keen, Soher N. Jayash, Natalie Crump, Lucinda A.E. Evans, Maya Karmali, Worachet Promruk, Claire E. Clarkin, Sonoko Narisawa, Louise Stephen, Brian L. Foster, José Luis Millán, Colin Farquharson, Katherine A. Staines   +15 more
wiley   +1 more source

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

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
doaj   +1 more source

Harnessing Bulk‐Segregant Mapping to Identify Trait‐Associated Genes in the Allopolyploid Model Plant Nicotiana benthamiana

Plant Biotechnology Journal, EarlyView.
ABSTRACT Forward genetics has been instrumental in identifying genes underlying desirable traits, yet its application to polyploid plants, many of which are key agricultural crops, remains challenging due to their genomic complexity. Therefore, we developed BenthMap, a bulk segregant analysis platform for high‐throughput trait mapping and gene ...
Zuba Ahmed, Jiyuan An, Satomi Hayashi, Julia Bally, Chris Winefield, Peter M. Waterhouse   +5 more
wiley   +1 more source

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