Results 21 to 30 of about 4,164 (178)

Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

JCRPE, 2020
Objective:Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations.
Zeynep Şıklar, Serap Turan, Abdullah Bereket, Firdevs Baş, Tülay Güran, Azad Akberzade, Ayhan Abacı, Korcan Demir, Ece Böber, Mehmet Nuri Özbek, Cengiz Kara, Şükran Poyrazoğlu, Murat Aydın, Aslı Kardelen, Ömer Tarım, Erdal Eren, Nihal Hatipoğlu, Muammer Büyükinan, Nesibe Akyürek, Semra Çetinkaya, Elvan Bayramoğlu, Beray Selver Eklioğlu, Ahmet Uçaktürk, Saygın Abalı, Damla Gökşen, Yılmaz Kor, Edip Ünal, İhsan Esen, Ruken Yıldırım, Onur Akın, Atilla Çayır, Emine Dilek, Birgül Kırel, Ahmet Anık, Gönül Çatlı, Merih Berberoğlu   +35 more
doaj   +1 more source

Raquitismo hipofosfatémico familiar ligado al cromosoma X: Reporte de Caso

Acta Médica Peruana, 2023
El Fósforo es regulado por el riñón y el sistema óseo orquestado principalmente por la acción de la parathormona (PTH) y una molécula recientemente descrita como el factor de crecimiento fibroblástico 23 (FGF-23).
Cristian León-Rabanal, Jenny Ponce Gambini   +1 more
doaj   +1 more source

A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2021
X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia.
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
doaj   +1 more source

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

Molecular Medicine Reports, 2022
Calcium (Ca2+) signaling is the first messenger signal exhibited by osteocytes. The present study aimed to better understand the link between Ca2+ concentration, and the levels of bone mineralization regulator proteins [phosphate‑regulating neutral endopeptidase on chromosome X (PHEX), matrix extracellular phosphoglycoprotein (MEPE) and dentin matrix ...
Donmez B.O., Karagur E.R., Donmez A.C., Choi J., Akkus O.   +4 more
openaire   +4 more sources

Mycobacterium leprae downregulates the expression of PHEX in Schwann cells and osteoblasts

Memorias do Instituto Oswaldo Cruz, 2010
Neuropathy and bone deformities, lifelong sequelae of leprosy that persist after treatment, result in significant impairment to patients and compromise their social rehabilitation.
Sandra R Boiça Silva, Antônio J Tempone, Tatiana P Silva, Maria Renata SN Costa, Geraldo MB Pereira, Flávio A Lara, Maria Cristina V Pessolani, Danuza Esquenazi   +7 more
doaj   +1 more source

Cloning and Characterization of the Proximal MurinePhexPromoter [PDF]

Endocrinology, 2001
Phex is an endopetidase that regulates systemic phosphate homeostasis. We investigated Phex gene transcription by cloning and performing functional analysis of the 2736 bp of the 5' flanking region of the mouse Phex gene containing its promoter. We identified a transcription start site, a consensus TATA-box, and multiple potential cis-acting regulator ...
S, Liu, R, Guo, L D, Quarles
openaire   +3 more sources

Genes Associated With Fracture Risk in Thoroughbred Horses Have Novel Roles in Osteogenesis. [PDF]

Anim Genet
ABSTRACT Bone fractures in Thoroughbred racehorses are a major welfare problem. Genetic factors contribute to fracture risk. Cell models have previously identified 112 differentially expressed genes in bone‐forming osteoblasts derived from horses at high and low genetic risk of fracture. However, 42 of these genes have no published role in bone.
Ross AC, Lumsden ES, Flood C, Dudhia J, Psifidi A, Guest DJ.   +5 more
europepmc   +2 more sources

A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene.
Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo   +5 more
doaj   +1 more source

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

Italian Journal of Pediatrics, 2022
Background Hypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. The most common cause of the disease is mutations in the phosphate regulating gene with homologies to ...
Nahid Tavana, Tzer Hwu Ting, Kaitao Lai, Marina L. Kennerson, Karuppiah Thilakavathy   +4 more
doaj   +1 more source

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)₂D serum levels are associated with PHEX mutation type

BMC Medical Genetics, 2011
Background Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels.
García-Miñaur Sixto, García-Sagredo José M, Soriano-Guillén Leandro, Fontalba Ana, Aleixandre Fernando, Vila-Cots Jaime, Martorell Loreto, Vilalta Ramón, Nieto José, Rica Itxaso, Ariceta Gema, Rey-Cordo Lourdes, Díaz-Grande José M, Bernabeu Ignacio, Gil Marta, Pombo Manuel, Cabanas Paloma, Barreiro Jesús, Castro-Feijóo Lidia, Morey Marcos, Rodríguez Berta, Juaristi Saioa, García-Pardos Carmen, Martínez-Peinado Antonio, Millán José M, Medeira Ana, Moldovan Oana, Fernandez Angeles, Loidi Lourdes   +28 more
doaj   +1 more source