Results 51 to 60 of about 6,701 (243)

Functional involvement of PHOSPHO1 in matrix vesicle-mediated skeletal mineralization [PDF]

, 2007
UNLABELLED: PHOSPHO1 is a phosphatase highly expressed in bone. We studied its functional involvement in mineralization through the use of novel small molecule inhibitors.
Ali, Anderson, Anderson, Anderson, Anderson, Anderson, Anderson, Anderson, Baykov, Bernard, Cecil, Colin Farquharson, Dympna Harmey, Fallon, Fawzi, Garimella, Gomez, Harmey, Harmey, Hatch, Hessle, Ho, Houston, Houston, Houston, Hoylaerts, Hsu, Hunter, Johnson, Johnson, José Luis Millán, Kanehisa, Kvam, Lanzafame, Majeska, McLean, Meyer, Miao, Montessuit, Montessuit, Morris, Moss, Murshed, Nagaya, Narisawa, Nurnberg, Pelech, Rezende, Roberts, Roberts, Robison, Schinke, Scott Roberts, Sodek, Sonoko Narisawa, Stewart, Stewart, Suzuki, Terkeltaub, Valhmu, Wang, Wang, Waymire, Whyte, Wu, Wu, Wu, Zelinski   +67 more
core   +1 more source

Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark [PDF]

, 2021
BACKGROUND: Hypophosphatasia (HPP) is an inborn disease caused by pathogenic variants in ALPL. Low levels of alkaline phosphatase (ALP) are a biochemical hallmark of the disease. Scarce knowledge about the prevalence of HPP in Scandinavia exists, and the
Beck Jensen, Jens-Erik, Duno, Morten, Frederiksen, Anja Lisbeth, Hepp, Nicola, Præst Holm, Jakob, Rye Jørgensen, Niklas   +5 more
core   +1 more source

Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family [PDF]

, 2018
Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals ...
Barbato, E., Galluccio, G., Impellizzeri, A., LA MONACA, CAMILLA, Midulla, G., Romeo, U.   +5 more
core   +2 more sources

Skeletal mineralization: mechanisms and diseases [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Skeletal mineralization is initiated in matrix vesicles (MVs), the small extracellular vesicles derived from osteoblasts and chondrocytes. Calcium and inorganic phosphate (Pi) taken up by MVs form hydroxyapatite crystals, which propagate on collagen ...
Toshimi Michigami
doaj   +1 more source

Alkaline Phosphatase and Hypophosphatasia [PDF]

Calcified Tissue International, 2015
Hypophosphatasia (HPP) results from ALPL mutations leading to deficient activity of the tissue-non-specific alkaline phosphatase isozyme (TNAP) and thereby extracellular accumulation of inorganic pyrophosphate (PPi), a natural substrate of TNAP and potent inhibitor of mineralization.
Michael P. Whyte, Michael P. Whyte, José Luis Millán   +2 more
openaire   +4 more sources

Modern Approaches to the Management of Children with Hypophosphatasia

Педиатрическая фармакология, 2023
Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents
Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova   +22 more
doaj   +1 more source

Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series

Bone Reports, 2022
Asfotase alfa is a human recombinant enzyme replacement therapy for hypophosphatasia. We describe 6 adults who were treated with asfotase alfa for 61–68 months in a clinical trial (NCT01163149), after which asfotase alfa was discontinued for 15–48 months.
Cheryl Rockman-Greenberg, Robert Josse, Mira Francis, Aziz Mhanni   +3 more
doaj  

Transition of young adults with metabolic bone diseases to adult care

Frontiers in Endocrinology, 2023
As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan.
Jordan Ross, Michelle R. Bowden, Michelle R. Bowden, Christine Yu, Alicia Diaz-Thomas, Alicia Diaz-Thomas   +5 more
doaj   +1 more source

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

A rare mutation in hypophosphatasia: a case report of adult form and review of the literature

Archives of Endocrinology and Metabolism
SUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular
Francisco Galeano-Valle, Jaime Vengoechea, Rodolfo J. Galindo   +2 more
doaj   +1 more source