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Items: 1 to 20 of 144

1.

Glutathione deficiency alters the vitamin D-metabolizing enzymes CYP27B1 and CYP24A1 in human renal proximal tubule epithelial cells and kidney of HFD-fed mice.

Parsanathan R, Jain SK.

Free Radic Biol Med. 2019 Feb 1;131:376-381. doi: 10.1016/j.freeradbiomed.2018.12.017. Epub 2018 Dec 19.

PMID:
30578920
2.

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

Gambaro G, Zaza G, Citterio F, Naticchia A, Ferraro PM.

Urolithiasis. 2019 Feb;47(1):115-123. doi: 10.1007/s00240-018-1092-4. Epub 2018 Nov 23. Review.

PMID:
30470867
3.

A theoretical insight to understand the molecular mechanism of dual target ligand CTA-018 in the chronic kidney disease pathogenesis.

Nagamani S, Muthusamy K.

PLoS One. 2018 Oct 4;13(10):e0203194. doi: 10.1371/journal.pone.0203194. eCollection 2018.

4.

[A young girl with recurrent calculosis and hypercalcemia].

Di Maio F, Vittori M, Bassi P, Fulignati P, D'Alonzo S, Ferraro PM.

G Ital Nefrol. 2018 May;35(3). pii: 2018-vol3. Italian.

PMID:
29786188
5.

A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).

De Paolis E, Minucci A, De Bonis M, Scaglione GL, Gervasoni J, Primiano A, Ferraro PM, Cappellani D, Marcocci C, Gambaro G, Capoluongo E.

Clin Chim Acta. 2018 Jul;482:8-13. doi: 10.1016/j.cca.2018.03.024. Epub 2018 Mar 21.

PMID:
29574006
6.

Comparative Effects of Cholecalciferol and Calcitriol on Circulating Markers of CKD Mineral Bone Disorder: A Randomized Clinical Trial.

Zelnick LR, de Boer IH, Kestenbaum BR, Chonchol M, Kendrick J.

Clin J Am Soc Nephrol. 2018 Jun 7;13(6):927-928. doi: 10.2215/CJN.00480118. Epub 2018 Mar 7. No abstract available.

7.

Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

Jiang X, O'Reilly PF, Aschard H, Hsu YH, Richards JB, Dupuis J, Ingelsson E, Karasik D, Pilz S, Berry D, Kestenbaum B, Zheng J, Luan J, Sofianopoulou E, Streeten EA, Albanes D, Lutsey PL, Yao L, Tang W, Econs MJ, Wallaschofski H, Völzke H, Zhou A, Power C, McCarthy MI, Michos ED, Boerwinkle E, Weinstein SJ, Freedman ND, Huang WY, Van Schoor NM, van der Velde N, Groot LCPGM, Enneman A, Cupples LA, Booth SL, Vasan RS, Liu CT, Zhou Y, Ripatti S, Ohlsson C, Vandenput L, Lorentzon M, Eriksson JG, Shea MK, Houston DK, Kritchevsky SB, Liu Y, Lohman KK, Ferrucci L, Peacock M, Gieger C, Beekman M, Slagboom E, Deelen J, Heemst DV, Kleber ME, März W, de Boer IH, Wood AC, Rotter JI, Rich SS, Robinson-Cohen C, den Heijer M, Jarvelin MR, Cavadino A, Joshi PK, Wilson JF, Hayward C, Lind L, Michaëlsson K, Trompet S, Zillikens MC, Uitterlinden AG, Rivadeneira F, Broer L, Zgaga L, Campbell H, Theodoratou E, Farrington SM, Timofeeva M, Dunlop MG, Valdes AM, Tikkanen E, Lehtimäki T, Lyytikäinen LP, Kähönen M, Raitakari OT, Mikkilä V, Ikram MA, Sattar N, Jukema JW, Wareham NJ, Langenberg C, Forouhi NG, Gundersen TE, Khaw KT, Butterworth AS, Danesh J, Spector T, Wang TJ, Hyppönen E, Kraft P, Kiel DP.

Nat Commun. 2018 Jan 17;9(1):260. doi: 10.1038/s41467-017-02662-2.

8.

Gene expression profiling of the Notch-AhR-IL22 axis at homeostasis and in response to tissue injury.

Weidenbusch M, Rodler S, Song S, Romoli S, Marschner JA, Kraft F, Holderied A, Kumar S, Mulay SR, Honarpisheh M, Kumar Devarapu S, Lech M, Anders HJ.

Biosci Rep. 2017 Dec 22;37(6). pii: BSR20170099. doi: 10.1042/BSR20170099. Print 2017 Dec 22.

9.

CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.

Madsen JOB, Sauer S, Beck B, Johannesen J.

J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):83-86. doi: 10.4274/jcrpe.4841. Epub 2017 Sep 6.

10.

[Neonatal intoxication to vitamin D in premature babies: A series of 16 cases].

Vierge M, Laborie S, Bertholet-Thomas A, Carlier MC, Picaud JC, Claris O, Bacchetta J.

Arch Pediatr. 2017 Sep;24(9):817-824. doi: 10.1016/j.arcped.2017.06.016. Epub 2017 Aug 14. French.

PMID:
28818584
11.

Effects of Vitamin D2 Supplementation on Vitamin D3 Metabolism in Health and CKD.

Batacchi Z, Robinson-Cohen C, Hoofnagle AN, Isakova T, Kestenbaum B, Martin KJ, Wolf MS, de Boer IH.

Clin J Am Soc Nephrol. 2017 Sep 7;12(9):1498-1506. doi: 10.2215/CJN.00530117. Epub 2017 Aug 2.

12.

Design and implementation of a custom next generation sequencing panel for selected vitamin D associated genes.

Benson KA, Chand S, Maxwell AP, Smyth LJ, Kilner J, Borrows R, McKnight AJ.

BMC Res Notes. 2017 Jul 28;10(1):348. doi: 10.1186/s13104-017-2664-z.

13.

Cholecalciferol decreases inflammation and improves vitamin D regulatory enzymes in lymphocytes in the uremic environment: A randomized controlled pilot trial.

Carvalho JTG, Schneider M, Cuppari L, Grabulosa CC, T Aoike D, Q Redublo BM, C Batista M, Cendoroglo M, Maria Moyses R, Dalboni MA.

PLoS One. 2017 Jun 30;12(6):e0179540. doi: 10.1371/journal.pone.0179540. eCollection 2017.

14.

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D, Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M, Schlingmann KP, Litwin M.

J Appl Genet. 2017 Aug;58(3):349-353. doi: 10.1007/s13353-017-0397-2. Epub 2017 May 3.

15.

CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.

Hawkes CP, Li D, Hakonarson H, Meyers KE, Thummel KE, Levine MA.

J Clin Endocrinol Metab. 2017 May 1;102(5):1440-1446. doi: 10.1210/jc.2016-4048.

16.

Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.

Ben Ameur S, Silve C, Chabchoub I, Damak F, Kamoun F, Toussaint A, Kmiha S, Sfaihi L, Maaloul I, Kamoun T, Aloulou H, Hachicha M.

Horm Res Paediatr. 2017;87(1):23-29. doi: 10.1159/000452886. Epub 2016 Dec 24.

PMID:
28013309
17.

Use of Extended-Release Calcifediol to Treat Secondary Hyperparathyroidism in Stages 3 and 4 Chronic Kidney Disease.

Sprague SM, Crawford PW, Melnick JZ, Strugnell SA, Ali S, Mangoo-Karim R, Lee S, Petkovich PM, Bishop CW.

Am J Nephrol. 2016;44(4):316-325. Epub 2016 Sep 28.

PMID:
27676085
18.

A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

Ferraro PM, Minucci A, Primiano A, De Paolis E, Gervasoni J, Persichilli S, Naticchia A, Capoluongo E, Gambaro G.

Urolithiasis. 2017 Jun;45(3):291-294. doi: 10.1007/s00240-016-0923-4. Epub 2016 Sep 17. Erratum in: Urolithiasis. 2017 Jun;45(3):295.

PMID:
27639704
19.

Levels of vitamin D receptor and CYP24A1 in patients with end-stage renal disease.

Ye JJ, Zhou TB, Zhang YF, Wang Q, Su YY, Tang JM, Li HY.

Afr Health Sci. 2016 Jun;16(2):462-7. doi: 10.4314/ahs.v16i2.14.

20.

Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.

Tebben PJ, Singh RJ, Kumar R.

Endocr Rev. 2016 Oct;37(5):521-547. Epub 2016 Sep 2. Review.

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