Results 81 to 90 of about 13,848 (209)

The Global ALPL gene variant classification project: Dedicated to deciphering variants

Bone
Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase (TNSALP). Variants of uncertain significance (VUS) cause diagnostic delay and uncertainty amongst patients and health care ...
Mariam R, Farman, Catherine, Rehder, Theodora, Malli, Cheryl, Rockman-Greenberg, Kathryn, Dahir, Gabriel Ángel, Martos-Moreno, Agnès, Linglart, Keiichi, Ozono, Lothar, Seefried, Guillermo, Del Angel, Gerald, Webersinke, Francesca, Barbazza, Lisa K, John, Sewmi M A, Delana Mudiyanselage, Florian, Högler, Erica Burner, Nading, Erin, Huggins, Eric T, Rush, Ahmed, El-Gazzar, Priya S, Kishnani, Wolfgang, Högler   +20 more
openaire   +3 more sources

Thermo‐Chemically Modified Silk Scaffolds Reveal Niche‐Driven Regulation of Hematopoiesis and Fibrosis

Small, EarlyView.
We introduce a versatile 3D platform that recreates key physical and biological features of the human bone marrow. By integrating tunable silk biomaterials, stromal cells, and human hematopoietic progenitors, the model captures both healthy and diseased microenvironments, analysis of blood formation, and its disruption in pathological conditions ...
Christian A. Di Buduo, Carolina P. Miguel, Giulia Della Rosa, Vittorio Abbonante, Santo Diprima, Delfina Tosi, Marta Filibian, Daniele Cattaneo, Jugal Kishore Sahoo, Nicola Tirelli, Alessandra Iurlo, Umberto Gianelli, David L. Kaplan, Alessandra Balduini   +13 more
wiley   +1 more source

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia

Frontiers in Cell and Developmental Biology
IntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier, Jana Schiffmaier, Sofia Rehling, Sofia Rehling, Katharina Marnet, Katharina Marnet, Angela Borst, Drenka Trivanović, Drenka Trivanović, Drenka Trivanović, Denitsa Docheva, Franz Jakob, Stephanie Graser, Marietta Herrmann, Daniel Liedtke   +14 more
doaj   +1 more source

Soluble Sema4D From γδ T Cells Exerts Osteoblast Inhibition via Plexin‐B/mTOR Signalling Contributing to Pathogenesis of Bisphosphonate‐Related Osteonecrosis of the Jaws

Cell Proliferation, EarlyView.
Schematic summarizing the pathway of sSema4D from γδ T cells inhibiting osteoblast differentiation in BRONJ. ABSTRACT Bisphosphonate‐related osteonecrosis of the jaw (BRONJ) is a severe complication in patients undergoing long‐term bisphosphonate therapy, while our knowledge on the pathogenesis of BRONJ is far from sufficient.
Lingling Ou, Shijia Qiao, Zhuoyi Liao, Xiner Tan, Hui Huang, Zhiyan Zhou, Ruhui Luo, Weijun Zeng, Yan Yang, Zhongxuan Zhang, Jingchen Chen, Shengli Wang, Yiqin Jiang, Jianlei Hao, Yuqin Shen, Longquan Shao   +15 more
wiley   +1 more source

Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred

Bone Reports, 2020
Hypophosphatasia is an inborn error in metabolism characterized by low serum alkaline phosphatase (ALP) activity resulting from deactivating mutations in TNSALP (also known as ALPL), the gene that encodes the 'tissue-specific' isoenzyme of ALP. The disease exhibits significant clinical heterogeneity that spans from death in utero to only dental ...
Sanjay K. Bhadada, Rimesh Pal, Vandana Dhiman, Nerea Alonso, Stuart H. Ralston, Simran Kaur, Rajat Gupta   +6 more
openaire   +3 more sources

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

The role of coherence entropy of physical twin observables in entanglement [PDF]

, 2003
The concept of physical twin observables (PTO) for bipartite quantum states,introduced and proved relevant for quantum information theory in recent work, is substantially simplified.
F Herbut, Henderson L, Herbut F, Herbut F, Herbut F, Herbut F, Herbut F, Herbut F, Herbut F, Lindblad G, Nielsen M A, Vujicic M, Wehrl A   +12 more
core   +1 more source

Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X‐Linked Hypophosphatemia in Mice

Journal of Periodontal Research, EarlyView.
Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan, Bella Donnelly, José Luis Millán, Brian L. Foster   +3 more
wiley   +1 more source

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum [PDF]

, 2014
BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by skin (papular lesions), ocular (subretinal neovascularisation) and cardiovascular manifestations (peripheral artery disease), due to mineralization and fragmentation of elastic fibres in the ...
Coucke, Paul, De Paepe, Anne, Hosen, Mohammad Jakir, Le Saux, Olivier, Vanakker, Olivier   +4 more
core   +3 more sources

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