Results 41 to 50 of about 4,789 (198)

Enpp1: a potential facilitator of breast cancer bone metastasis. [PDF]

PLoS ONE, 2013
Bone is the most common site of breast cancer metastasis and once established, it is frequently incurable. Critical to our ability to prevent and treat bone metastasis is the identification of the key factors mediating its establishment and understanding
Wen Min Lau, Michele Doucet, Ryan Stadel, David Huang, Kristy L Weber, Scott L Kominsky   +5 more
doaj   +1 more source

Cole Disease Results from Mutations in ENPP1 [PDF]

The American Journal of Human Genetics, 2013
The coexistence of abnormal keratinization and aberrant pigmentation in a number of cornification disorders has long suggested a mechanistic link between these two processes. Here, we deciphered the genetic basis of Cole disease, a rare autosomal-dominant genodermatosis featuring punctate keratoderma, patchy hypopigmentation, and uncommonly, cutaneous ...
Eytan, Ori, Morice-Picard, Fanny, Sarig, Ofer, Ezzedine, K., Isakov, Ofer, Li, Qiaoli, Ishida-Yamamoto, Akemi, Shomron, Noam, Goldsmith, Tomer, Fuchs-Telem, Dana, Adir, Noam, Uitto, Jouni, Orlow, Seth J., Taieb, Alain, Sprecher, Eli   +14 more
openaire   +3 more sources

Fluorescence Differentiation of ATP-Related Multiple Enzymatic Activities in Synovial Fluid as a Marker of Calcium Pyrophosphate Deposition Disease Using Kyoto Green

Molecules, 2020
Calcium pyrophosphate deposition disease (CPPD) is a crystal induced inflammation in joints, and causes severe pain in elderly people. The accumulation of pyrophosphate (PPi) in synovial fluid (SF) results from several enzymatic reactions, especially the
Nattha Yongwattana, Nutsara Mekjinda, Tulyapruek Tawonsawatruk, Itaru Hamachi, Akio Ojida, Jirarut Wongkongkatep   +5 more
doaj   +1 more source

Hypercementosis Associated with ENPP1 Mutations and GACI [PDF]

Journal of Dental Research, 2017
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (P i ) and pyrophosphate (PP i ). Three regulators that control pericellular concentrations of P i and PP
V, Thumbigere-Math, A, Alqadi, N I, Chalmers, M B, Chavez, E Y, Chu, M T, Collins, C R, Ferreira, K, FitzGerald, R I, Gafni, W A, Gahl, K S, Hsu, M S, Ramnitz, M J, Somerman, S G, Ziegler, B L, Foster   +14 more
openaire   +2 more sources

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

PLoS Genetics, 2022
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent
Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li   +11 more
doaj   +1 more source

Regulation of TGF-β1-induced fibroblast differentiation of human periodontal ligament stem cells through the mutually antagonistic action of ectonucleotide pyrophosphatase/phosphodiesterase 1 and 2

Frontiers in Cell and Developmental Biology
Human periodontal ligament stem cells (hPDLSCs) differentiate into periodontal ligament (PDL) fibroblasts, osteoblasts, and cementoblasts. To identify inducers of PDL fibroblastic differentiation, monoclonal antibody series were developed a series of ...
Onyou Ju, Seon-Yle Ko, Young-Joo Jang, Young-Joo Jang   +3 more
doaj   +1 more source

Evaluation of NPP1 as a Novel Biomarker of Coronary Artery Disease: A Pilot Study in Human Beings [PDF]

Advanced Pharmaceutical Bulletin, 2018
Purpose: Coronary artery calcification (CAC) is utilized as an important tool for global risk assessment of cardiovascular events in individuals with intermediate risk.
Amir Hooshang Mohammadpour, Saeed Nazemi, Fatemeh Mashhadi, Atefeh Rezapour, Mohammad Afshar, Sepideh Afzalnia, Afsaneh Mohammadi, Hamid Reza Mashreghi Moghadam, Maryam Moradian, Seyed Mohammad Hasan Moallem, Saeed Falahaty, Azadeh Zayerzadeh, Sepideh Elyasi   +12 more
doaj   +1 more source

Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study

Frontiers in Cardiovascular Medicine, 2023
Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1)-related multiple arterial stenoses is a rare clinical syndrome in which global arterial calcification begins in infancy, with a high probability of early mortality, and hypophosphatemic rickets ...
Jie Liu, Xitao Song, Daming Zhang, Yan Jiang, Mingsheng Ma, Zhengqing Qiu, Weibo Xia, Yuexin Chen   +7 more
doaj   +1 more source

Detection of tumor immunity-related ENPP1 using AIE-active probe QM-AMP

Green Chemical Engineering
Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a crucial biomarker on the surface of tumor cells, plays a significant role in immune suppression and cancer metastasis.
Yuwei Wang, Ting Yang, Shichang Liu, Haojian Yang, Qin Xu, Wei-Hong Zhu, Andong Shao, Qi Wang   +7 more
doaj   +1 more source

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

Orphanet Journal of Rare Diseases, 2022
Background ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessive ...
Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +6 more
doaj   +1 more source