265 related articles for article (PubMed ID: 37871131)
1. ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
Ferreira CR; Carpenter TO; Braddock DT
Annu Rev Pathol; 2024 Jan; 19():507-540. PubMed ID: 37871131
[TBL] [Abstract][Full Text] [Related]
2. Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.
Maulding ND; Kavanagh D; Zimmerman K; Coppola G; Carpenter TO; Jue NK; Braddock DT
Bone; 2021 Jan; 142():115656. PubMed ID: 32980560
[TBL] [Abstract][Full Text] [Related]
3. Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.
Zimmerman K; Liu X; von Kroge S; Stabach P; Lester ER; Chu EY; Srivastava S; Somerman MJ; Tommasini SM; Busse B; Schinke T; Carpenter TO; Oheim R; Braddock DT
J Bone Miner Res; 2022 Sep; 37(9):1733-1749. PubMed ID: 35773783
[TBL] [Abstract][Full Text] [Related]
4. Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE).
Apschner A; Huitema LF; Ponsioen B; Peterson-Maduro J; Schulte-Merker S
Dis Model Mech; 2014 Jul; 7(7):811-22. PubMed ID: 24906371
[TBL] [Abstract][Full Text] [Related]
5. INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.
Cheng Z; O'Brien K; Howe J; Sullivan C; Schrier D; Lynch A; Jungles S; Sabbagh Y; Thompson D
J Bone Miner Res; 2021 Aug; 36(8):1594-1604. PubMed ID: 33900645
[TBL] [Abstract][Full Text] [Related]
6. Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.
Kato H; Ansh AJ; Lester ER; Kinoshita Y; Hidaka N; Hoshino Y; Koga M; Taniguchi Y; Uchida T; Yamaguchi H; Niida Y; Nakazato M; Nangaku M; Makita N; Takamura T; Saito T; Braddock DT; Ito N
J Bone Miner Res; 2022 Jun; 37(6):1125-1135. PubMed ID: 35340077
[TBL] [Abstract][Full Text] [Related]
7. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.
Höppner J; Kornak U; Sinningen K; Rutsch F; Oheim R; Grasemann C
Bone; 2021 Dec; 153():116111. PubMed ID: 34252603
[TBL] [Abstract][Full Text] [Related]
8. [Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].
Liu ZQ; Chen XB; Song FY; Gao K; Qiu MF; Qian Y; Du M
Zhonghua Er Ke Za Zhi; 2017 Nov; 55(11):858-861. PubMed ID: 29141319
[No Abstract] [Full Text] [Related]
9. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D; Levine MA; Richard G; Morrow MM; Flynn EK; Uitto J; Li Q
Hum Mutat; 2022 Sep; 43(9):1183-1200. PubMed ID: 35475527
[TBL] [Abstract][Full Text] [Related]
10. Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
Ferreira CR; Kintzinger K; Hackbarth ME; Botschen U; Nitschke Y; Mughal MZ; Baujat G; Schnabel D; Yuen E; Gahl WA; Gafni RI; Liu Q; Huertas P; Khursigara G; Rutsch F
J Bone Miner Res; 2021 Nov; 36(11):2193-2202. PubMed ID: 34355424
[TBL] [Abstract][Full Text] [Related]
11. Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Stella J; Buers I; van de Wetering K; Höhne W; Rutsch F; Nitschke Y
Hum Mutat; 2016 Nov; 37(11):1190-1201. PubMed ID: 27467858
[TBL] [Abstract][Full Text] [Related]
12. Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in
Choe Y; Shin CH; Lee YA; Kim MJ; Lee YJ
Front Endocrinol (Lausanne); 2022; 13():911672. PubMed ID: 35966073
[TBL] [Abstract][Full Text] [Related]
13. ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP.
Nitschke Y; Yan Y; Buers I; Kintziger K; Askew K; Rutsch F
Exp Mol Med; 2018 Oct; 50(10):1-12. PubMed ID: 30369595
[TBL] [Abstract][Full Text] [Related]
14. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y; Baujat G; Botschen U; Wittkampf T; du Moulin M; Stella J; Le Merrer M; Guest G; Lambot K; Tazarourte-Pinturier MF; Chassaing N; Roche O; Feenstra I; Loechner K; Deshpande C; Garber SJ; Chikarmane R; Steinmann B; Shahinyan T; Martorell L; Davies J; Smith WE; Kahler SG; McCulloch M; Wraige E; Loidi L; Höhne W; Martin L; Hadj-Rabia S; Terkeltaub R; Rutsch F
Am J Hum Genet; 2012 Jan; 90(1):25-39. PubMed ID: 22209248
[TBL] [Abstract][Full Text] [Related]
15. ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA; Chunn LM; Khursigara G; Nester C; Wray K; Botschen U; Kiel MJ; Rutsch F; Ferreira CR
Hum Mutat; 2022 Dec; 43(12):1673-1705. PubMed ID: 36150100
[TBL] [Abstract][Full Text] [Related]
16. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Ralph D; Nitschke Y; Levine MA; Caffet M; Wurst T; Saeidian AH; Youssefian L; Vahidnezhad H; Terry SF; Rutsch F; Uitto J; Li Q
PLoS Genet; 2022 Apr; 18(4):e1010192. PubMed ID: 35482848
[TBL] [Abstract][Full Text] [Related]
17. Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
Oheim R; Zimmerman K; Maulding ND; Stürznickel J; von Kroge S; Kavanagh D; Stabach PR; Kornak U; Tommasini SM; Horowitz MC; Amling M; Thompson D; Schinke T; Busse B; Carpenter TO; Braddock DT
J Bone Miner Res; 2020 Mar; 35(3):528-539. PubMed ID: 31805212
[TBL] [Abstract][Full Text] [Related]
18. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR; Hackbarth ME; Ziegler SG; Pan KS; Roberts MS; Rosing DR; Whelpley MS; Bryant JC; Macnamara EF; Wang S; Müller K; Hartley IR; Chew EY; Corden TE; Jacobsen CM; Holm IA; Rutsch F; Dikoglu E; Chen MY; Mughal MZ; Levine MA; Gafni RI; Gahl WA
Genet Med; 2021 Feb; 23(2):396-407. PubMed ID: 33005041
[TBL] [Abstract][Full Text] [Related]
19. Musculoskeletal Comorbidities and Quality of Life in ENPP1-Deficient Adults and the Response of Enthesopathy to Enzyme Replacement Therapy in Murine Models.
Ferreira CR; Ansh AJ; Nester C; O'Brien C; Stabach PR; Murtada SI; Lester ER; Khursigara G; Molloy L; Carpenter TO; Braddock DT
J Bone Miner Res; 2022 Mar; 37(3):494-504. PubMed ID: 34882836
[TBL] [Abstract][Full Text] [Related]
20. Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.
Kozák E; Fülöp K; Tőkési N; Rao N; Li Q; Terry SF; Uitto J; Zhang X; Becker C; Váradi A; Pomozi V
Exp Dermatol; 2022 Apr; 31(4):548-555. PubMed ID: 34758173
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
