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ENPP1 Gene

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https://www.readbyqxmd.com/read/28866368/overlapping-functions-of-bone-sialoprotein-and-pyrophosphate-regulators-in-directing-cementogenesis
#1
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...
September 1, 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
#2
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 ATP release from the liver and consequently reduced plasma PPi levels underlie PXE. This study examined whether reduced levels of circulating PPi, an anti-mineralization factor, is the sole mechanism of PXE. The Abcc6(-/-) and Enpp1(asj) mice were crossed with transgenic mice expressing human ENPP1, an ectonucleotidase which generates PPi from ATP...
June 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28602725/il15ra-is-required-for-osteoblast-function-and-bone-mineralization
#3
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
#4
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...
May 2, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28415752/correlation-between-facial-morphology-and-gene-polymorphisms-in-the-uygur-youth-population
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/27467858/effects-of-different-variants-in-the-enpp1-gene-on-the-functional-properties-of-ectonucleotide-pyrophosphatase-phosphodiesterase-family-member-1
#11
Jacqueline Stella, Insa Buers, Koen van de Wetering, Wolfgang Höhne, Frank Rutsch, Yvonne Nitschke
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP1), encoded by ENPP1, is a plasma membrane protein that generates inorganic pyrophosphate (PPi ), a physiologic inhibitor of hydroxyapatite formation. In humans, variants in ENPP1 are associated with generalized arterial calcification of infancy, an autosomal-recessive condition causing premature onset of arterial calcification and intimal proliferation resulting in stenoses. ENPP1 variants also cause pseudoxanthoma elasticum characterized by ectopic calcification of soft connective tissues...
November 2016: Human Mutation
https://www.readbyqxmd.com/read/27238374/the-enpp1-k121q-polymorphism-is-associated-with-type-2-diabetes-and-related-metabolic-phenotypes-in-a-taiwanese-population
#12
Tun-Jen Hsiao, Eugene Lin
Increased risk of developing type 2 diabetes (T2D) has been associated with a single nucleotide polymorphism (SNP), rs1044498 (K121Q), in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, but this association is unclear among Asians. In this replication study, we reassessed whether the ENPP1 rs1044498 SNP is associated with T2D, obesity, and T2D/obesity-related metabolic traits in a Taiwanese population. A total of 1513 Taiwanese subjects were assessed in this study. The ENPP1 rs1044498 SNP was genotyped by the Taqman assay...
September 15, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27237608/disruption-of-biomineralization-pathways-in-spinal-tissues-of-a-mouse-model-of-diffuse-idiopathic-skeletal-hyperostosis
#13
Hisataka Ii, Sumeeta Warraich, Neil Tenn, Diana Quinonez, David W Holdsworth, James R Hammond, S Jeffrey Dixon, Cheryle A Séguin
Equilibrative nucleoside transporter 1 (ENT1) mediates passage of adenosine across the plasma membrane. We reported previously that mice lacking ENT1 (ENT1(-/-)) exhibit progressive ectopic mineralization of spinal tissues resembling diffuse idiopathic skeletal hyperostosis (DISH) in humans. Here, we investigated mechanisms underlying aberrant mineralization in ENT1(-/-) mice. Micro-CT revealed ectopic mineralization of spinal tissues in both male and female ENT1(-/-) mice, involving the annulus fibrosus of the intervertebral discs (IVDs) of older mice...
September 2016: Bone
https://www.readbyqxmd.com/read/27187064/corpus-luteum-as-a-novel-target-of-weight-changes-that-contribute-to-impaired-female-reproductive-physiology-and-function
#14
Satu Kuokkanen, Alex J Polotsky, Justin Chosich, Andrew P Bradford, Anna Jasinska, Tzu Phang, Nanette Santoro, Susan E Appt
UNLABELLED: Obesity and malnutrition are associated with decreased fecundity in women. Impaired reproductive capacity in obese women is often attributed to anovulation. However, obese women with ovulatory cycles also have reduced fertility, but the etiology of their impaired reproduction is only partially understood. Accumulating evidence suggests that obesity directly impairs oocyte and embryo quality as well as endometrial receptivity. In obese women, urinary progesterone metabolite excretion is decreased, but in excess of what can be explained by suppressed gonadotropin secretion, suggesting that apart from its central effect obesity may directly affect progesterone (P4) production...
August 2016: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/27086348/interleukin-1%C3%AE-suppresses-the-transporter-genes-ank-and-ent1-expression-in-stromal-progenitor-cells-retaining-mineralization
#15
Yoichi Ezura, Xin Lin, Arina Hatta, Yayoi Izu, Masaki Noda
Heterotopic ossification (HO) in various tissues evokes clinical problems. Inflammatory responses of the stromal progenitor cells may be involved in its etiology. Previous report indicated that pro-inflammatory cytokines including IL-1β enhanced the in vitro calcification of human mesenchymal stem cells (MSCs), by suppressing the expression of ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1). However, possible contribution of other related factors had not been investigated. Here, we investigated the expression of regulators of extracellular pyrophosphate and nucleosides including Enpp1, Nt5e, Ank, Enptds, and Ent1, examining various connective tissue stromal progenitor cells, including bone marrow stromal cells and synovium derived cells from mouse, or bone marrow MSCs from human...
August 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27029882/-molecular-biology-as-a-diagnostic-tool-in-the-newborn-emergency-department-a-rare-case-of-idiopathic-infantile-arterial-calcification
#16
Andrea Borromini, Giorgio Rossi, Paola Maggi, Daniele Speciale, Gianpaolo Mirri, Anna Cogliardi, Claudia Addis, Emanuele Dainese, Emanuela Bonoldi, Alessandro Marando
A Turkish female infant of 96 days was admitted to the pediatric emergency room because of inconsolable crying, persistent cough, and difficulty in feeding during the previous day. She was conscious and did not show any signs or symptoms of multiorgan failure. A few minutes afterwards, the child experienced cardiac arrest with an initial cardiac rhythm of asystole and died 75 minutes later following cardiopulmonary resuscitation maneuvers. As the pathological cause of death, autopsy findings revealed a rare type of idiopathic infantile arterial calcification resulting from a mutation in the gene encoding for the ENPP1 enzyme...
March 2016: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/26958016/contribution-of-enpp1-tcf7l2-and-fto-polymorphisms-to-type-2-diabetes-in-mixed-ancestry-ethnic-population-of-south-africa
#17
Yandiswa Y Yako, Jabulisile H Madubedube, Andre P Kengne, Rajiv T Erasmus, Tahir S Pillay, Tandi E Matsha
BACKGROUND: Transcription factor 7-like 2 gene (TCF7L2), fat mass and obesity-associated gene (FTO), and ectonucleotide pyrophosphatase/phosphodiesterase gene (ENPP1) are known risk loci for type 2 diabetes (T2DM) mostly in European populations. OBJECTIVES: To assess the association of these genes with T2DM risk in a South African mixed-ancestry population. METHODS: Five hundred and sixty six participants were genotyped for ENPP1-rs997509 and -rs1044498, FTO-9941349 and -rs3751812, TCF7L2-rs12255372 and -rs7903146 polymorphisms using Taqman genotyping assays and validated by automated sequencing to assess the association of the polymorphisms with cardiometabolic traits...
December 2015: African Health Sciences
https://www.readbyqxmd.com/read/26931818/transcriptional-profiling-of-subcutaneous-adipose-tissue-in-italian-large-white-pigs-divergent-for-backfat-thickness
#18
P Zambonelli, E Gaffo, M Zappaterra, S Bortoluzzi, R Davoli
Fat deposition is a widely studied trait in pigs because of its implications with animal growth efficiency, technological and nutritional characteristics of meat products, but the global framework of the biological and molecular processes regulating fat deposition in pigs is still incomplete. This study describes the backfat tissue transcription profile in Italian Large White pigs and reports genes differentially expressed between fat and lean animals according to RNA-seq data. The backfat transcription profile was characterised by the expression of 23 483 genes, of which 54...
June 2016: Animal Genetics
https://www.readbyqxmd.com/read/26910915/ectopic-mineralization-of-cartilage-and-collagen-rich-tendons-and-ligaments-in-enpp1asj-2j-mice
#19
Jieyu Zhang, Nathaniel A Dyment, David W Rowe, Sarah Y Siu, John P Sundberg, Jouni Uitto, Qiaoli Li
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder caused by mutations in the ENPP1 gene, manifests with extensive mineralization of the cardiovascular system. A spontaneous asj-2J mutant mouse has been characterized as a model for GACI. Previous studies focused on phenotypic characterization of skin and vascular tissues. This study further examined the ectopic mineralization phenotype of cartilage, collagen-rich tendons and ligaments in this mouse model. The mice were placed on either control diet or the "acceleration diet" for up to 12 weeks of age...
March 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/26868433/is-common-genetic-variation-at-irs1-enpp1-and-trib3-loci-associated-with-cardiometabolic-phenotypes-in-type-2-diabetes-an-exploratory-analysis-of-the-verona-newly-diagnosed-type-2-diabetes-study-vnds-5
#20
M Trombetta, M Dauriz, S Bonetti, D Travia, L Boselli, L Santi, E Bonora, R C Bonadonna
BACKGROUND AND AIMS: Insulin resistance is a hallmark of type 2 diabetes (T2DM), it is often accompanied by defective beta-cell function (BF) and is involved in the pathophysiology of cardiovascular disease (CVD). Commonalities among these traits may recognize a genetic background, possibly involving the genetic variation of insulin signaling pathway genes. We conducted an exploratory analysis by testing whether common genetic variability at IRS1, ENPP1 and TRIB3 loci is associated with cardiovascular risk traits and metabolic phenotypes in T2DM...
March 2016: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
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