Results 71 to 80 of about 2,723,375 (158)

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials

Molecular Genetics and Metabolism Reports, 2020
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene.
Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho   +8 more
doaj   +1 more source

Dynamics of Kidney Calcium and Phosphorus Mineral Handling in Laying Hens During the Transition to Egg Production

Journal of Animal Physiology and Animal Nutrition, EarlyView.
ABSTRACT The transition from immature pullets to sexually mature female chickens is accompanied by pronounced structural and functional modifications. This is accompanied by coordinated changes in hormonal and metabolic pathways that primarily regulate reproduction, nutrient utilization, and mineral homeostasis to compensate for temporary imbalances ...
Henry Reyer, Michael Oster, Hiba Qasir, Siriluck Ponsuksili, Vera Sommerfeld, Markus Rodehutscord, Klaus Wimmers   +6 more
wiley   +1 more source

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia [PDF]

, 2019
Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations to characterize a previously unreported skeletal disease in the Karelian Bear Dog (KBD) breed ...
Hundi, Sruthi, Arumilli, Meharji, Syrjä, Pernilla, Karkamo, Veera, Hytönen, Marjo K., Lappalainen, Anu K., Viitmaa, Ranno, Kyöstilä, Kaisa, Lohi, Hannes   +8 more
core   +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

Genetic Profiling of MC3T3-E1 Cells in Different Media: Implications for In Vitro Screening Development

Biomedicines
Background/Objectives: The translation of in vitro biomaterial evaluations into successful clinical applications often fails due to discrepancies with in vivo results.
Makoto Izumiya, Hidehiko Nobuoka, Hono Endo, Rintaro Ueno, Masaki Mimura, Naoto Saito, Hisao Haniu   +6 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2745-2749, December 2026.
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

Current View on Etiopathogenesis, Clinic, and Diagnosis of Hypophosphatasia in Children: Narrative Review and Case Study Description Represented by Stress Fractures

Вопросы современной педиатрии
Hypophosphatasia (HPP) is a monogenic bone disease caused by alkaline phosphatase (ALP) deficiency due to variants in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNALP).
Mirzonuriddin M. Alimov, Alexandr A. Konstantinov, Nataly O. Grankina, Alexandr V. Trofimov, Oksana L. Kolobova, Mikhail M. Kostik   +5 more
doaj   +1 more source

Titanium alloys (AoN) and their involvement in osseointegration

Dental Research Journal, 2012
Background: Osseointegration is essential for a long-term successful and inflammation-free dental implant. Such a result depends on osteoblastic cells growth and differentiation at the tissue-implant interface.
Matteo Danza, Ilaria Zollino, Valentina Candotto, Francesca Cura, Francesco Carinci   +4 more
doaj   +1 more source

Effect of Jagged1 on the expression of genes in regulation of osteoblast differentiation and bone mineralization ontology in human dental pulp and periodontal ligament cells

Journal of Oral Biology and Craniofacial Research, 2020
Objective: To define the effect of Jagged1 on the gene expression in osteoblast differentiation, regulation of osteoblast differentiation and regulation of bone mineralization ontology.
Kanokporn Hansamuit, Thanaphum Osathanon, Jaijam Suwanwela   +2 more
doaj   +1 more source

Mode‐of‐Action and Human Relevance Assessment for Diisononyl Phthalate‐Induced Liver Tumors in Rodents

Journal of Applied Toxicology, Volume 46, Issue 12, Page 4264-4287, December 2026.
ABSTRACT Diisononyl phthalate (DINP) is a high molecular weight phthalate and high production volume chemical. DINP's carcinogenic potential has been investigated in four rodent bioassays, with liver tumors observed in three of the studies. Authoritative assessments have hypothesized that DINP acts through the peroxisome proliferator‐activated receptor
Amanda N. Buerger, Melissa M. Heintz, Laurie C. Haws, Chad M. Thompson   +3 more
wiley   +1 more source