Results 51 to 60 of about 4,789 (198)

Genetic and Population Analyses Implicate Thyroid‐Related Regulation of RNF144B in Chondrocalcinosis

Arthritis &Rheumatology, EarlyView.
Objective Chondrocalcinosis, characterized by calcium crystal deposition within articular cartilage, affects 5% to 15% of the general population and has recently been identified as an osteoarthritis risk factor. However, its biologic pathways remain unclear.
Yahong Wu, Yanning Xu, Paul C. Okoro, Sirine Saafi, Jard de Vries, Xiaoyi Qi, Edwin H. G. Oei, Sita Bierma‐Zeinstra, Trudy Voortman, David Felson, Joyce B. J. van Meurs, Layal Chaker, J. Mark Wilkinson, Michelle S. Yau, Jessica Bertrand, Cindy G. Boer   +15 more
wiley   +1 more source

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

Annual Review of Pathology: Mechanisms of Disease
The enzyme ectonucleotide pyrophosphatase/phosphodiesterase 1 ( ENPP1) codes for a type 2 transmembrane glycoprotein that hydrolyzes extracellular ATP to generate pyrophosphate (PPi) and adenosine monophosphate, thereby contributing to downstream purinergic signaling pathways.
Ferreira, Carlos R., Carpenter, Thomas O., Braddock, Demetrios T.   +2 more
openaire   +2 more sources

Different from bone: Tooth formation and enameloid mineralization are not affected by reduced dietary phosphorus intake

Developmental Dynamics, EarlyView.
Abstract Background Vertebrates rely on phosphorus intake for skeletal mineralization. In humans, hypomineralized teeth associated with rickets, hypophosphatemia, hypophosphatasia, or idiopathic molar‐incisor‐hypomineralization pose significant problems.
S. Cotti, A. Huysseune, I. A. K. Fiedler, B. Busse, C. Di Biagio, M. Rücklin, F. Marone, A. Forlino, P. E. Witten   +8 more
wiley   +1 more source

Enpp1 ameliorates MAFLD by regulating hepatocyte lipid metabolism through the AMPK/PPARα signaling pathway

Cell & Bioscience
Background Metabolic dysfunction-associated fatty liver disease (MAFLD) has become the leading chronic liver disease globally, and there are no approved pharmacotherapies to treat this disease.
Xiaohui Liu, Shuai Chen, Xing Liu, Xianxian Wu, Xiaoliang Jiang, Yuhan Li, Zhiwei Yang   +6 more
doaj   +1 more source

Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant

Frontiers in Cardiovascular Medicine, 2023
Generalized arterial calcification of infancy (GACI) is a rare genetic disease characterized by arterial calcifications or stenoses and hypertension.
Pengtao Lu, Jinglong Chen, Mei Chen, Ling Wang, Dandan Xiang, Jie Yin, Shiwei Yang   +6 more
doaj   +1 more source

ATP-degrading ENPP1 is required for survival (or persistence) of long-lived plasma cells

, 2017
Survival of antibody-secreting plasma cells (PCs) is vital for sustained antibody production. However, it remains poorly understood how long-lived PCs (LLPCs) are generated and maintained.
Sungyun Kang, Wendy DuBois, Ines Gonzalez-Garcia, Javier Traba, Dong-Mi Shin, Yuanyuan Gao, Alexander L. Kovalchuk, Shweta Jain, Patrick Duffy, Jiafang Sun, Sadia Abbasi, Jeongheon Yoon, Herbert C. Morse, Chenfeng Qi, Solomon Conteh, Hongsheng Wang, Zohreh Naghashfar, Michael N. Sack   +17 more
core   +1 more source

Adenosine—A Regulator of Human Testicular Peritubular Cells

Andrology, EarlyView.
ABSTRACT Background Extracellular purines, in particular ATP and adenosine, are regulators of physiological and pathophysiological processes throughout the human body. Roles in the human testis are emerging and include actions on peritubular cells, which form the wall of seminiferous tubules.
Lina Scholz, Annika Liebich, Youli Stepanov, Jan B. Stöckl, Mirko Peitzsch, Michaela Schneider, Julia Schneider, Nicole Kreitmair, Matthias Trottmann, Frank‐Michael Köhn, Jovica Ninkovic, Thomas Fröhlich, Artur Mayerhofer   +12 more
wiley   +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 more
wiley   +1 more source

Polymorphisms of the _ENPP1_ gene are not associated with type 2 diabetes or obesity in the Chinese Han population [PDF]

, 2008
*Objective:* Type 2 Diabetes mellitus is a metabolic disorder characterized by chronic hyperglycemia and with a major feature of insulin resistance. Genetic association studies have suggested that _ENPP1_ might play a potential role in susceptibility to ...
Daizhan Zhou, Sheng Li, Yun Liu, He Xu, Lin He, Zuofeng Zhang, Zhuo Chen, Simin Liu, Lan Yu, Teng Zhao, Guoyin Feng, Di Zhang   +11 more
core  

The role of HSP70 on ENPP1 expression and insulin-receptor activation

, 2009
Ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) inhibits insulin-receptor (IR) signaling and, when over-expressed, induces insulin resistance in vitro and in vivo.
Antonella Marucci, Alessandro Doria, Rosa Di Paola, TRISCHITTA, VINCENZO, Watip Boonyasrisawat, Jose C. Florez, Giuseppe Miscio, Libera Padovano   +7 more
core   +1 more source