Results 61 to 70 of about 3,700 (196)

Perspective on Dentoalveolar Manifestations Resulting From PHOSPHO1 Loss-of-Function: A Form of Pseudohypophosphatasia?

Frontiers in Dental Medicine, 2022
Mineralization of the skeleton occurs by several physicochemical and biochemical processes and mechanisms that facilitate the deposition of hydroxyapatite (HA) in specific areas of the extracellular matrix (ECM). Two key phosphatases, phosphatase, orphan
Fatma F. Mohamed, Michael B. Chavez, Flavia Amadeu de Oliveira, Sonoko Narisawa, Colin Farquharson, José Luis Millán, Brian L. Foster   +6 more
doaj   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Mineral‐targeted alkaline phosphatase improves bone graft‐mediated alveolar bone defect healing in mice

Journal of Periodontology, Volume 97, Issue 5, Page 1071-1085, May 2026.
Abstract Background Alveolar bone loss challenges tooth retention and implant placement. Freeze‐dried bone allograft (FDBA) is widely used for alveolar ridge preservation but has limitations in resorption rate and healing time. In this proof‐of‐concept study, we tested whether pro‐mineralization enzyme, tissue‐nonspecific alkaline phosphatase (TNAP ...
Kedith Sawangsri, Aonjittra Phanrungsuwan, Binnaz Leblebicioglu, José Luis Millán, Brian L. Foster   +4 more
wiley   +1 more source

Genetic Etiology and Dental Pulp Cell Deficiency of Hypophosphatasia

, 2010
Hypophosphatasia is caused by mutations of the tissue-non-specific alkaline phosphatase ( TNSALP) gene with deficiency of dentin structure. The aim of this study was to examine whether TNSALP mutation in dental pulp cells contributes to dentin dysplasia
J. Li, H. Lei, L. Ge, H. Liu, T. Zhu, Y. Gan   +5 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia, Vincent J. Carson, D. Holmes Morton, Karin J. Blakemore, Mark I. Evans, Peter B. Crino   +5 more
wiley   +1 more source

Childhood hypophosphatasia with homozygous mutation of ALPL

, 2014
To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia. Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented. A 13-
Ganapathy, Shankar Srinivas, Berkovitz, Gary, Haidet, Jaime, Ukarapong, Supamit   +3 more
core   +1 more source

Monoclonal antibody anti-sclerostin for treatment of pelvic insufficiency fractures in adult hypophosphatasia: A case report

Trauma Case Reports
Hypophosphatasia is a rare inherited metabolic disease leading to inhibition of bone and teeth mineralization that can be complicated by multiple insufficiency fractures.
Pierre-Emmanuel Schwab, Alicia Dessain, Joshua Milby   +2 more
doaj   +1 more source

Dental manifestations in adult hypophosphatasia and their correlation with biomarkers

JIMD Reports, 2022
Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms.
Priya Sinha, Rachel Gabor, Rachael Haupt‐Harrington, Leila Deering, Robert D. Steiner   +4 more
doaj   +1 more source