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Items: 1 to 20 of 99

1.
ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency
Carlos R. Ferreira, Thomas O. Carpenter, Demetrios T. Braddock
Annu Rev Pathol. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Annu Rev Pathol. 2024 Jan 24; 19: 507–540. Published online 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-121126
PMCID:
PMC11062289
AbstractArticlePDF–1.8M
2.
ENPP1 is an innate immune checkpoint of the anticancer cGAMP–STING pathway in breast cancer
Songnan Wang, Volker Böhnert, Alby J. Joseph, Valentino Sudaryo, Gemini Skariah, Jason T. Swinderman, Feiqiao B. Yu, Vishvak Subramanyam, Denise M. Wolf, Xuchao Lyu, Luke A. Gilbert, Laura J. van’t Veer, Hani Goodarzi, Lingyin Li
Proc Natl Acad Sci U S A. 2023 Dec 26; 120(52): e2313693120. Published online 2023 Dec 20. doi: 10.1073/pnas.2313693120
PMCID:
PMC10756298
AbstractArticlePDF–4.4M
3.
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
Douglas Ralph, Michael A. Levine, Gabriele Richard, Michelle Morrow, Elizabeth Flynn, Jouni Uitto, Qiaoli Li
Hum Mutat. Author manuscript; available in PMC 2023 Sep 1.
Published in final edited form as: Hum Mutat. 2022 Sep; 43(9): 1183–1200. Published online 2022 May 18. doi: 10.1002/humu.24391
PMCID:
PMC9357117
AbstractArticlePDF–717K
4.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
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
PLoS Genet. 2022 Apr; 18(4): e1010192. Published online 2022 Apr 28. doi: 10.1371/journal.pgen.1010192
PMCID:
PMC9089899
AbstractArticlePDF–2.0M
5.
High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target
Hanzhi Wang, Feng Ye, Caiyun Zhou, Qi Cheng, Huaizeng Chen
PLoS One. 2021; 16(2): e0245733. Published online 2021 Feb 26. doi: 10.1371/journal.pone.0245733
PMCID:
PMC7909685
AbstractArticlePDF–2.0M
6.
Tumor ENPP1 (CD203a)/Haptoglobin Axis Exploits Myeloid-Derived Suppressor Cells to Promote Post-Radiotherapy Local Recurrence in Breast Cancer
Borja Ruiz-Fernández de Córdoba, Haritz Moreno, Karmele Valencia, Naiara Perurena, Pablo Ruedas, Thomas Walle, Alberto Pezonaga-Torres, Juan Hinojosa, Elisabet Guruceaga, Antonio Pineda-Lucena, Marta Abengózar-Muela, Denis Cochonneau, Carolina Zandueta, Susana Martínez-Canarias, Álvaro Teijeira, Daniel Ajona, Sergio Ortiz-Espinosa, Xabier Morales, Carlos Ortiz de Solórzano, Marta Santisteban, Luis I. Ramos-García, Laura Guembe, Vratislav Strnad, Dominique Heymann, Sandra Hervás-Stubbs, Rubén Pío, María E. Rodríguez-Ruiz, Carlos E. de Andrea, Silvestre Vicent, Ignacio Melero, Fernando Lecanda, Rafael Martínez-Monge
Cancer Discov. 2022 May 2; 12(5): 1356–1377. Published online 2022 Jan 27. doi: 10.1158/2159-8290.CD-21-0932
PMCID:
PMC7612709
AbstractArticlePDF–9.6M
7.
Crystal structures of human ENPP1 in apo and bound forms
Matthew L. Dennis, Janet Newman, Olan Dolezal, Meghan Hattarki, Regina N. Surjadi, Stewart D. Nuttall, Tam Pham, Tom Nebl, Michelle Camerino, Poh Sim Khoo, Brendon J. Monahan, Thomas S. Peat
Acta Crystallogr D Struct Biol. 2020 Sep 1; 76(Pt 9): 889–898. Published online 2020 Aug 17. doi: 10.1107/S2059798320010505
PMCID:
PMC7466750
AbstractArticlePDF–2.0M
8.
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome
Orna Staretz-Chacham, Rachel Shukrun, Ortal Barel, Ben Pode-Shakked, Oren Pleniceanu, Yair Anikster, Nechama Shalva, Carlos R. Ferreira, Admit Ben-Haim Kadosh, Justin Richardson, Shrikant M. Mane, Friedhelm Hildebrandt, Asaf Vivante
Am J Med Genet A. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Am J Med Genet A. 2019 Oct; 179(10): 2112–2118. Published online 2019 Aug 24. doi: 10.1002/ajmg.a.61334
PMCID:
PMC6886884
AbstractArticlePDF–710K
9.
Association of genetic polymorphism of PC‐1 gene (rs1044498 Lys121Gln) with insulin‐resistant type 2 diabetes mellitus in Punjabi Population of Pakistan
Abdullah Abdo Albegali, Muhammad Shahzad, Muhammad Ikram Ullah, Saqib Mahmood, Maryam Rashid
Mol Genet Genomic Med. 2019 Aug; 7(8): e775. Published online 2019 Jun 28. doi: 10.1002/mgg3.775
PMCID:
PMC6687647
AbstractArticlePDF–399K
10.
K121Q polymorphism in the Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 gene is associated with acute kidney rejection
Denise A. Sortica, Daisy Crispim, Andrea C. Bauer, Pamela S. Nique, Bruna B. Nicoletto, Ricieli P. Crestani, Jennifer T. Staehler, Roberto C. Manfro, Luis H. Canani
PLoS One. 2019; 14(7): e0219062. Published online 2019 Jul 18. doi: 10.1371/journal.pone.0219062
PMCID:
PMC6639061
AbstractArticlePDF–919K
11.
Neutrophils as sources of dinucleotide polyphosphates and metabolism by epithelial ENPP1 to influence barrier function via adenosine signaling
Valerie F. Curtis, Ian M. Cartwright, J. Scott Lee, Ruth X. Wang, Daniel J. Kao, Jordi M. Lanis, Krista M. Burney, Nichole Welch, Caroline H. T. Hall, Matthew S. Goldberg, Eric L. Campbell, Sean P. Colgan
Mol Biol Cell. 2018 Nov 1; 29(22): 2687–2699. doi: 10.1091/mbc.E18-06-0377
PMCID:
PMC6249842
AbstractArticlePDF–4.5M
12.
ENPP1 K121Q (rs1044498 C > A) genetic polymorphism confers a high risk of susceptibility to coronary heart disease: A PRISMA-compliant article
Jia-Yin Di, Meng-Lu Dai, Zong-Xin Zhang
Medicine (Baltimore) 2018 Jul; 97(27): e11236. Published online 2018 Jul 6. doi: 10.1097/MD.0000000000011236
PMCID:
PMC6076073
AbstractArticlePDF–713K
13.
Condylar geometry variation is associated with ENPP1 variant in a population of patients with dento-facial deformities
Marion Constant, Romain Nicot, Alexandre R. Vieira DDS, Gwenael Raoul, James J. Sciote, Joel Ferri
J Craniomaxillofac Surg. Author manuscript; available in PMC 2018 Jun 1.
Published in final edited form as: J Craniomaxillofac Surg. 2017 Jun; 45(6): 826–830. Published online 2017 Mar 8. doi: 10.1016/j.jcms.2017.02.020
PMCID:
PMC5452077
AbstractArticlePDF–427K
14.
Association of Genetic Variation in ENPP1 With Obesity-related Phenotypes
Christopher P. Jenkinson, Dawn K. Coletta, Marion Flechtner-Mors, Shirley L. Hu, Marcel J. Fourcaudot, Lenore M. Rodriguez, Jennifer Schneider, Rector Arya, Michael P. Stern, John Blangero, Ravindranath Duggirala, Ralph A. DeFronzo
Obesity (Silver Spring) Author manuscript; available in PMC 2016 Jun 1.
Published in final edited form as: Obesity (Silver Spring). 2008 Jul; 16(7): 1708–1713. Published online 2008 May 8. doi: 10.1038/oby.2008.262
PMCID:
PMC4889449
AbstractArticlePDF–769K
15.
Gender Differences in the Relationship of ENPP1/PC-1 Variants to Obesity in a Turkish Population
Sinan Tanyolaç, Robert W. Mahley, Uğur Hodoglugil, Ira D. Goldfine
Obesity (Silver Spring) Author manuscript; available in PMC 2015 Jun 30.
Published in final edited form as: Obesity (Silver Spring). 2008 Nov; 16(11): 2468–2471. Published online 2008 Aug 21. doi: 10.1038/oby.2008.397
PMCID:
PMC4486356
AbstractArticlePDF–236K
16.
Association between the ENPP1 K121Q Polymorphism and Risk of Diabetic Kidney Disease: A Systematic Review and Meta-Analysis
Denise Alves Sortica, Marjorie Piucco Buffon, Bianca Marmontel Souza, Bruna Bellicanta Nicoletto, Andressa Santer, Tais Silveira Assmann, Daisy Crispim, Luis Henrique Canani
PLoS One. 2015; 10(3): e0118416. Published online 2015 Mar 20. doi: 10.1371/journal.pone.0118416
PMCID:
PMC4368055
AbstractArticlePDF–1.1M
17.
Impact of ENPP1 K121Q on Change of Insulin Resistance after Web-Based Intervention in Korean Men with Diabetes and Impaired Fasting Glucose
Ji Yeon Kang, Sook Hee Sung, Yeon Ju Lee, Tae In Choi, Seung Jin Choi
J Korean Med Sci. 2014 Oct; 29(10): 1353–1359. Published online 2014 Oct 8. doi: 10.3346/jkms.2014.29.10.1353
PMCID:
PMC4214934
AbstractArticlePDF–391K
18.
Stem cell characteristics in glioblastoma are maintained by the ecto-nucleotidase E-NPP1
J Bageritz, L Puccio, R M Piro, V Hovestadt, E Phillips, T Pankert, J Lohr, C Herold-Mende, P Lichter, V Goidts
Cell Death Differ. 2014 Jun; 21(6): 929–940. Published online 2014 Feb 14. doi: 10.1038/cdd.2014.12
PMCID:
PMC4013511
AbstractArticlePDF–875K
19.
Expression of NPP1 is regulated during atheromatous plaque calcification
Yvonne Nitschke, Simone Hartmann, Giovanni Torsello, Rüdiger Horstmann, Harald Seifarth, Gabriele Weissen-Plenz, Frank Rutsch
J Cell Mol Med. 2011 Feb; 15(2): 220–231. Published online 2009 Dec 8. doi: 10.1111/j.1582-4934.2009.00988.x
PMCID:
PMC3822790
AbstractArticlePDF–1.2M
20.
Cole Disease Results from Mutations in ENPP1
Ori Eytan, Fanny Morice-Picard, Ofer Sarig, Khaled Ezzedine, Ofer Isakov, Qiaoli Li, Akemi Ishida-Yamamoto, Noam Shomron, Tomer Goldsmith, Dana Fuchs-Telem, Noam Adir, Jouni Uitto, Seth J. Orlow, Alain Taieb, Eli Sprecher
Am J Hum Genet. 2013 Oct 3; 93(4): 752–757. doi: 10.1016/j.ajhg.2013.08.007
PMCID:
PMC3791268
AbstractArticlePDF–1.0M

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