Results 21 to 30 of about 14,236 (244)

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening

Molecular Genetics & Genomic Medicine, 2023
Hypophosphatasia (HPP) is an underrecognized, complex bone mineralization disorder with variable manifestations caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene.
Natalie M. Beck, Katelynn G. Sagaser, Cathleen S. Lawson, Christine Hertenstein, Ashley Jachens, Katherine R. Forster, Kristen A. Miller, Angie C. Jelin, Karin J. Blakemore, Julie Hoover‐Fong   +9 more
doaj   +1 more source

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

Bone Reports, 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
Nicola Hepp, Anja Lisbeth Frederiksen, Morten Duno, Jakob Præst Holm, Niklas Rye Jørgensen, Jens-Erik Beck Jensen   +5 more
doaj   +1 more source

<i>Alpl</i> ablation in dental epithelium disrupts ameloblasts and incisor enamel mineralization in male mice. [PDF]

JBMR Plus
Mohamed FF, Shahid S, Millán JL, Foster BL.   +3 more
europepmc   +2 more sources

Compounded PHOSPHO1/ALPL Deficiencies Reduce Dentin Mineralization [PDF]

Journal of Dental Research, 2013
Phosphatases are involved in bone and tooth mineralization, but their mechanisms of action are not completely understood. Tissue-nonspecific alkaline phosphatase (TNAP, ALPL) regulates inhibitory extracellular pyrophosphate through its pyrophosphatase activity to control mineral propagation in the matrix; mice without TNAP lack acellular cementum, and
M D, McKee, M C, Yadav, B L, Foster, M J, Somerman, C, Farquharson, J L, Millán   +5 more
openaire   +2 more sources

Zfp462 Is a Key Mediator of Osteoblast Differentiation and Might Contribute to Age-Related Bone Loss. [PDF]

Aging Cell
Osteoblast‐specific Zfp462 deficiency reduces bone mass and strength, as well as the number of osteocalcin‐positive cells. Zfp462 forms a transcriptional complex with Moz and Runx2 to promote histone H3 acetylation and activate osteogenic gene expression.
Kim JM, Kim HK, Moon SA, Kim Y, Lee SH, Yu J, Lee SH, Son WC, Kim JE, Baek IJ, Kim YB, Koh JM.   +11 more
europepmc   +2 more sources

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

Frontiers in Endocrinology, 2023
IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.MethodsThere were 30 suspected HPP patients ...
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri   +30 more
doaj   +1 more source

Diagnostic accuracy of novel mRNA blood biomarkers of infection to predict outcomes in emergency department patients with undifferentiated abdominal pain

Scientific Reports, 2023
Abdominal pain represents greater than 20% of US Emergency Department (ED) visits due to a wide range of illnesses. There are currently no reliable blood biomarkers to predict serious outcomes in patients with abdominal pain.
Andrew C. Meltzer, Richard S. Wargowsky, Seamus Moran, Tristan Jordan, Ian Toma, Tisha Jepson, Shiyu Shu, Yan Ma, Timothy A. McCaffrey   +8 more
doaj   +1 more source

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

Frontiers in Endocrinology, 2022
BackgroundLow serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown.
Maite Santurtún, Eva Mediavilla-Martinez, Ana I. Vega, Natalia Gallego, Natalia Gallego, Karen E. Heath, Karen E. Heath, Jair A. Tenorio, Jair A. Tenorio, Pablo Lapunzina, Pablo Lapunzina, Leyre Riancho-Zarrabeitia, José A. Riancho   +12 more
doaj   +1 more source

Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases

Children, 2022
Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary
Tamami Kadota, Marin Ochiai, Rena Okawa, Kazuhiko Nakano   +3 more
doaj   +1 more source

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.

PLoS Computational Biology, 2022
Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone mineralization and is highly variable in its clinical phenotype.
Fei Xiao, Ziyun Zhou, Xingyu Song, Mi Gan, Jie Long, Gennady Verkhivker, Guang Hu   +6 more
doaj   +1 more source