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ENPP1 Gene

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https://www.readbyqxmd.com/read/29707405/genetics-of-refractory-rickets-identification-of-novel-phex-mutations-in-indian-patients-and-a-literature-update
#1
REVIEW
Binata Marik, Arvind Bagga, Aditi Sinha, Pankaj Hari, Arundhati Sharma
Refractory rickets is a genetic disorder that cannot be treated by vitamin D supplementation and adequate dietary calcium and phosphorus. Hereditary hypophosphatemic rickets is one of the major forms of refractory rickets in Indian children and caused due to mutations in the PHEX , FGF23 , DMP1 , ENPP1 , and SLC34A3 genes. This is the first study in India on a large number of patients reporting on mutational screening of the PHEX gene. Direct sequencing in 37 patients with refractory rickets revealed eight mutations in 13 patients of which 1 was nonsense, 2 were deletions, 1 was a deletion-insertion, and 4 were missense mutations...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29558203/enzymes-of-the-purinergic-signaling-system-exhibit-diverse-effects-on-the-degeneration-of-valvular-interstitial-cells-in-a-3-d-microenvironment
#2
Andreas Weber, Mareike Barth, Jessica Isabel Selig, Silja Raschke, Konstantinos Dakaras, Alexander Hof, Julia Hesse, Jürgen Schrader, Artur Lichtenberg, Payam Akhyari
Calcific aortic valve disease is an active disease process with lipoprotein deposition, chronic inflammation, and progressive leaflet degeneration. Expression of ectonucleotidases, a group of membrane-bound enzymes that regulate the metabolism of ATP and its metabolites, may coregulate the degeneration process of valvular interstitial cells (VICs). The aim of this study was to investigate the role of the enzymes of the purinergic system in the degeneration process of VICs. Ovine VICs were cultivated in vitro under different prodegenerative conditions and treated with inhibitors of ectonucleoside triphosphate diphosphohydrolase 1 (CD39)/ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), and 5'-nucleotidase (CD73), as well as with adenosine and adenosine receptor agonists...
March 20, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29513794/the-hepatic-ectonucleotide-pyrophosphatase-phosphodiesterase-1-gene-mrna-abundance-is-reduced-by-insulin-and-induced-by-dexamethasone
#3
Huiwen Ma, Ping Wang, Dan Jin, Ting Jia, Hong Mao, Jiandi Zhang, Shi Zhao
Hormones regulate hepatic gene expressions to maintain metabolic homeostasis. Ectonucleotide pyrophosphatase/phosphodiesterase 1 has been thought to interfere with insulin signaling. To determine its potential role in the regulation of metabolism, we analyzed its gene (Enpp1) expression in the liver of rats experiencing fasting and refeeding cycles, and in primary rat hepatocytes and human hepatoma HepG2 cells treated with insulin and dexamethasone using northern blot and real-time PCR techniques. Hepatic Enpp1 expression was induced by fasting and reduced by refeeding in the rat liver...
March 1, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29505567/clinical-and-genetic-characteristics-of-15-families-with-hereditary-hypophosphatemia-novel-mutations-in-phex-and-slc34a3
#4
Sezer Acar, Huda A BinEssa, Korcan Demir, Roua A Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F Al-Enezi, Seçil Özışık, Manar S A Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E Tamimi, Brian F Meyer, Ece Böber, Yufei Shi
BACKGROUND: Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features, and may require genetic testing to be confirmed. METHODOLOGY: Clinical features and mutation spectrum were investigated in patients with hereditary hypophosphatemia. Genomic DNA of 23 patients from 15 unrelated families were screened sequentially by PCR-sequencing analysis for mutations in the following genes: PHEX, FGF23, DMP1, ENPP1, CLCN5, SLC34A3 and SLC34A1...
2018: PloS One
https://www.readbyqxmd.com/read/29386520/angiogenesis-and-evading-immune-destruction-are-the-main-related-transcriptomic-characteristics-to-the-invasive-process-of-oral-tongue-cancer
#5
Juan Alberto Pérez-Valencia, Francisco Prosdocimi, Italo M Cesari, Igor Rodrigues da Costa, Carolina Furtado, Michelle Agostini, Franklin David Rumjanek
Metastasis of head and neck tumors is responsible for a high mortality rate. Understanding its biochemistry may allow insights into tumorigenesis. To that end we carried out RNA-Seq analyses of 5 SCC9 derived oral cancer cell lines displaying increased invasive potential. Differentially expressed genes (DEGs) were annotated based on p-values and false discovery rate (q-values). All 292 KEGG pathways related to the human genome were compared in order to pinpoint the absolute and relative contributions to the invasive process considering the 8 hallmarks of cancer plus 2 new defined categories, as well as we made with our transcriptomic data...
January 31, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29244957/hypercementosis-associated-with-enpp1-mutations-and-gaci
#6
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
Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (Pi ) and pyrophosphate (PPi ). Three regulators that control pericellular concentrations of Pi and PPi include tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures. This study for the first time analyzed the effect of decreased PPi on dental development in individuals with generalized arterial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene...
April 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#7
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29122055/extruded-linseed-alone-or-in-combination-with-fish-oil-modifies-mammary-gene-expression-profiles-in-lactating-goats
#8
Y Faulconnier, L Bernard, C Boby, J Domagalski, Y Chilliard, C Leroux
Nutrition is a major factor that regulates ruminant milk components, particularly its fatty acid (FA) composition, which is an important determinant of milk nutritional quality. In the mammary gland, milk component biosynthesis involves a large number of genes under nutritional regulation that are not well understood. Thus, the objective of the present study was to evaluate the effects of extruded linseeds (EL) alone or in combination with fish oil (ELFO) on goat mammary gene expression. In total, 14 goats were fed one of the following three diets: a natural grassland hay basal diet (CTRL) alone, CTRL supplemented with 530 g/day of EL, or 340 g/day of EL plus 39 g/day of fish oil (ELFO)...
November 10, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29103441/enpp1-and-esr1-genotypes-associated-with-subclassifications-of-craniofacial-asymmetry-and-severity-of-temporomandibular-disorders
#9
Kay Chung, Tabitha Richards, Romain Nicot, Alexandre R Vieira, Christiane V Cruz, Gwénaël Raoul, Joel Ferri, James J Sciote
INTRODUCTION: We investigated whether ACTN3, ENPP1, ESR1, PITX1, and PITX2 genes which contribute to sagittal and vertical malocclusions also contribute to facial asymmetries and temporomandibular disorders (TMD) before and after orthodontic and orthognathic surgery treatment. METHODS: One hundred seventy-four patients with a dentofacial deformity were diagnosed as symmetric or subdivided into 4 asymmetric groups according to posteroanterior cephalometric measurements...
November 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28942038/the-enpp1-k121q-polymorphism-modulates-developing-of-bone-disorders-in-type-2-diabetes-a-cross-sectional-study
#10
Nahid Neamati, Seyed Reza Hosseini, Mahmood Hajiahmadi, Sohrab Halalkhor, Hajighorban Nooreddini, Haleh Akhavan Niaki, Bahare Korani, Hadi Parsian
BACKGROUND: Osteoporosis and osteopenia are common diseases in every population. Type 2 diabetes mellitus (T2DM) can lead to the development of various complications, such as bone disorders especially among elderly individuals. Studies suggested that ectonucleotide pyrophosphatase/phosphodiesterase1 (ENPP1) is contributed in insulin resistance and also the inhibition of bone mineralization. In this study, association of K121Q (rs1044498) polymorphism of the ENPP1 gene with T2DM and bone disorders is evaluated...
December 30, 2017: Gene
https://www.readbyqxmd.com/read/28866368/overlapping-functions-of-bone-sialoprotein-and-pyrophosphate-regulators-in-directing-cementogenesis
#11
M Ao, M B Chavez, E Y Chu, K C Hemstreet, Y Yin, M C Yadav, J L Millán, L W Fisher, H A Goldberg, M J Somerman, B L Foster
Although acellular cementum is essential for tooth attachment, factors directing its development and regeneration remain poorly understood. Inorganic pyrophosphate (PPi ), a mineralization inhibitor, is a key regulator of cementum formation: tissue-nonspecific alkaline phosphatase (Alpl/TNAP) null mice (increased PPi ) feature deficient cementum, while progressive ankylosis protein (Ank/ANK) null mice (decreased PPi ) feature increased cementum. Bone sialoprotein (Bsp/BSP) and osteopontin (Spp1/OPN) are multifunctional extracellular matrix components of cementum proposed to have direct and indirect effects on cell activities and mineralization...
December 2017: Bone
https://www.readbyqxmd.com/read/28652107/plasma-ppi-deficiency-is-the-major-but-not-the-exclusive-cause-of-ectopic-mineralization-in-an-abcc6-mouse-model-of-pxe
#12
Jingyi Zhao, Joshua Kingman, John P Sundberg, Jouni Uitto, Qiaoli Li
Pseudoxanthoma elasticum (PXE), a prototype of heritable ectopic mineralization disorders, is caused in most cases by inactivating mutations in the ABCC6 gene. It was recently discovered that absence of ABCC6-mediated adenosine triphosphate release from the liver and consequently reduced plasma inorganic pyrophosphate (PPi) levels underlie PXE. This study examined whether reduced levels of circulating PPi, an antimineralization factor, is the sole mechanism of PXE. The Abcc6-/- and Enpp1asj mice were crossed with transgenic mice expressing human ENPP1, an ectonucleotidase that generates PPi from adenosine triphosphate...
November 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28602725/il15ra-is-required-for-osteoblast-function-and-bone-mineralization
#13
Emanuele Loro, Girish Ramaswamy, Abhishek Chandra, Wei-Ju Tseng, Manoj K Mishra, Eileen M Shore, Tejvir S Khurana
Interleukin-15 receptor alpha (IL15RA) is an important component of interleukin-15 (IL15) pro-inflammatory signaling. In addition, IL15 and IL15RA are present in the circulation and are detected in a variety of tissues where they influence physiological functions such as muscle contractility and overall metabolism. In the skeletal system, IL15RA was previously shown to be important for osteoclastogenesis. Little is known, however, about its role in osteoblast function and bone mineralization. In this study, we evaluated bone structural and mechanical properties of an Il15ra whole-body knockout mouse (Il15ra(-/-)) and used in vitro and bioinformatic analyses to understand the role IL15/IL15RA signaling on osteoblast function...
October 2017: Bone
https://www.readbyqxmd.com/read/28464260/cellular-migration-ability-is-modulated-by-extracellular-purines-in-ovarian-carcinoma-skov-3-cells
#14
A S Martínez-Ramírez, M Díaz-Muñoz, A M Battastini, A Campos-Contreras, A Olvera, L Bergamin, T Glaser, C E Jacintho Moritz, H Ulrich, F G Vázquez-Cuevas
Extracellular nucleotides and nucleosides have emerged as important elements regulating tissue homeostasis. Acting through specific receptors, have the ability to control gene expression patterns to direct cellular fate. We observed that SKOV-3 cells express the ectonucleotidases: ectonucleotide pyrophosphatase 1 (ENPP1), ecto-5'-nucleotidase (NT5E), and liver alkaline phosphatase (ALPL). Strikingly, in pulse and chase experiments supplemented with ATP, SKOV-3 cells exhibited low catabolic efficiency in the conversion of ADP into AMP, but they were efficient in converting AMP into adenosine...
December 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28415752/correlation-between-facial-morphology-and-gene-polymorphisms-in-the-uygur-youth-population
#15
Huiyu He, Xue Mi, Jiayu Zhang, Qin Zhang, Yuan Yao, Xu Zhang, Feng Xiao, Chunping Zhao, Shutao Zheng
Human facial morphology varies considerably among individuals and can be influenced by gene polymorphisms. We explored the effects of single nucleotide polymorphisms (SNPs) on facial features in the Uygur youth population of the Kashi area in Xinjiang, China. Saliva samples were collected from 578 volunteers, and 10 SNPs previously associated with variations in facial physiognomy were genotyped. In parallel, 3D images of the subjects' faces were obtained using grating facial scanning technology. After delimitation of 15 salient landmarks, the correlation between SNPs and the distances between facial landmark pairs was assessed...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28402956/elevated-dietary-magnesium-during-pregnancy-and-postnatal-life-prevents-ectopic-mineralization-in-enpp1asj-mice-a-model-for-generalized-arterial-calcification-of-infancy
#16
Joshua Kingman, Jouni Uitto, Qiaoli Li
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder caused by mutations in the ENPP1 gene. It is characterized by mineralization of the arterial blood vessels, often diagnosed prenatally, and associated with death in early childhood. There is no effective treatment for this devastating disorder. We previously characterized the Enpp1asjmutant mouse as a model of GACI, and we have now explored the effect of elevated dietary magnesium (five-fold) in pregnant mothers and continuing for the first 14 weeks of postnatal life...
June 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28383812/mutational-analysis-of-phex-fgf23-and-clcn5-in-patients-with-hypophosphataemic-rickets
#17
Ayla Guven, Roua A Al-Rijjal, Huda A BinEssa, Durmuş Dogan, Yılmaz Kor, Minjing Zou, Namik Kaya, Anwar F Alenezi, Suna Hancili, Ömer Tarım, Essa Y Baitei, Walaa E Kattan, Brian F Meyer, Yufei Shi
CONTEXT: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. OBJECTIVE: To investigate underlying genetic defects in patients with hypophosphataemic rickets. METHODS: We analysed genomic DNA from nine unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3 by PCR sequencing and copy number analysis...
July 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/27959908/ectopic-mineralization-and-conductive-hearing-loss-in-enpp1asj-mutant-mice-a-new-model-for-otitis-media-and-tympanosclerosis
#18
Cong Tian, Belinda S Harris, Kenneth R Johnson
Otitis media (OM), inflammation of the middle ear, is a common cause of hearing loss in children and in patients with many different syndromic diseases. Studies of the human population and mouse models have revealed that OM is a multifactorial disease with many environmental and genetic contributing factors. Here, we report on otitis media-related hearing loss in asj (ages with stiffened joints) mutant mice, which bear a point mutation in the Enpp1 gene. Auditory-evoked brainstem response (ABR) measurements revealed that around 90% of the mutant mice (Enpp1asj/asj) tested had moderate to severe hearing impairment in at least one ear...
2016: PloS One
https://www.readbyqxmd.com/read/27863377/variable-patterns-of-ectopic-mineralization-in-enpp1asj-2j-mice-a-model-for-generalized-arterial-calcification-of-infancy
#19
COMPARATIVE STUDY
Sarah Y Siu, Nathaniel A Dyment, David W Rowe, John P Sundberg, Jouni Uitto, Qiaoli Li
Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by early onset of extensive mineralization of the cardiovascular system. The classical forms of GACI are caused by mutations in the ENPP1 gene, encoding a membrane-bound pyrophosphatase/phosphodiesterase that hydrolyzes ATP to AMP and inorganic pyrophosphate. The asj-2J mouse harboring a spontaneous mutation in the Enpp1 gene has been characterized as a model for GACI. These mutant mice develop ectopic mineralization in skin and vascular connective tissues as well as in cartilage and collagen-rich tendons and ligaments...
December 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27519661/enpp1-and-esr1-genotypes-influence-temporomandibular-disorders-development-and-surgical-treatment-response-in-dentofacial-deformities
#20
Romain Nicot, Alexandre R Vieira, Gwénaël Raoul, Constance Delmotte, Alain Duhamel, Joël Ferri, James J Sciote
UNLABELLED: Dentofacial deformities are dys-morpho-functional disorders involving the temporomandibular joints (TMJ). Many authors have reported a TMJ improvement in dysfunctional subjects with malocclusion after orthodontic or combined orthodontic and surgical treatment particularly for the relief of pain. In particular, few studies have highlighted the demographic and clinical predictors of response to surgical treatment. To date, no genetic factor has yet been identified as a predictor of response to surgical treatment...
September 2016: Journal of Cranio-maxillo-facial Surgery
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