PMC Articles for MedGen (Select 357280) - PMC

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

Abstract Article PDF–1.8M

Select item 110448394.

Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum

Anahita Sehgal, Tatyana Milman, Qiaoli Li, Jose S. Pulido

Transl Vis Sci Technol. 2024 Apr; 13(4): 29. Published online 2024 Apr 24. doi: 10.1167/tvst.13.4.29

PMCID:: PMC11044839

Abstract Article PDF–4.0M

Select item 103660295.

Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum

Luca Fésűs, Norbert Kiss, Klára Farkas, Dóra Plázár, Sára Pálla, Nastassia Navasiolava, Lili Róbert, Norbert M. Wikonkál, Ludovic Martin, Márta Medvecz

Arch Dermatol Res. 2023; 315(7): 1897–1908. Published online 2023 Feb 27. doi: 10.1007/s00403-023-02557-x

PMCID:: PMC10366029

Abstract Article PDF–1.9M

Select item 101356896.

Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum

Ricarda Plümers, Christopher Lindenkamp, Michel Robin Osterhage, Cornelius Knabbe, Doris Hendig

Biomolecules. 2023 Apr; 13(4): 672. Published online 2023 Apr 12. doi: 10.3390/biom13040672

PMCID:: PMC10135689

Abstract Article PDF–8.2M

Select item 97721377.

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi

Hum Mutat. 2022 Dec; 43(12): 1872–1881. Published online 2022 Nov 15. doi: 10.1002/humu.24498

PMCID:: PMC9772137

Abstract Article PDF–1.5M

Select item 97387188.

Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases

Lukas L. Nollet, Olivier M. Vanakker

Int J Mol Sci. 2022 Dec; 23(23): 15288. Published online 2022 Dec 4. doi: 10.3390/ijms232315288

PMCID:: PMC9738718

Abstract Article PDF–1.1M

Select item 95066839.

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management

Alison M Boyce, Rachel I Gafni, Carlos R Ferreira

Curr Osteoporos Rep. Author manuscript; available in PMC 2022 Sep 23.

Published in final edited form as: Curr Osteoporos Rep. 2020 Jun; 18(3): 232–241. doi: 10.1007/s11914-020-00577-4

PMCID:: PMC9506683

Abstract Article PDF–751K

Select item 940919210.

Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis

Ricarda Plümers, Michel R. Osterhage, Christopher Lindenkamp, Cornelius Knabbe, Doris Hendig

Int J Mol Sci. 2022 Aug; 23(16): 9218. Published online 2022 Aug 16. doi: 10.3390/ijms23169218

PMCID:: PMC9409192

Abstract Article PDF–2.3M

Select item 937411811.

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene

Yunsoo Choe, Choong Ho Shin, Young Ah Lee, Man Jin Kim, Yun Jeong Lee

Front Endocrinol (Lausanne) 2022; 13: 911672. Published online 2022 Jul 29. doi: 10.3389/fendo.2022.911672

PMCID:: PMC9374118

Abstract Article PDF–1.2M

Select item 935711712.

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

Abstract Article PDF–717K

Select item 932918313.

Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum

Jianhe Huang, Douglas Ralph, Federica Boraldi, Daniela Quaglino, Jouni Uitto, Qiaoli Li

J Invest Dermatol. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: J Invest Dermatol. 2022 Aug; 142(8): 2140–2148.e1. Published online 2022 Feb 7. doi: 10.1016/j.jid.2022.01.022

PMCID:: PMC9329183

Abstract Article PDF–2.6M

Select item 908989914.

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

Abstract Article PDF–2.0M

Select item 908819815.

Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification

Douglas Ralph, Koen van de Wetering, Jouni Uitto, Qiaoli Li

Am J Pathol. 2022 May; 192(5): 762–770. doi: 10.1016/j.ajpath.2022.01.012

PMCID:: PMC9088198

Abstract Article PDF–795K

Select item 903500016.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Röder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortés-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona, Thomas Haaf

Hum Genet. 2022; 141(3-4): 785–803. Published online 2021 Jun 20. doi: 10.1007/s00439-021-02303-1

PMCID:: PMC9035000

Abstract Article PDF–1.9M

Select item 897723317.

Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum

Eszter Kozák, Krisztina Fülöp, Natália Tőkési, Nidhi Rao, Qiaoli Li, Sharon F. Terry, Jouni Uitto, Xiaoming Zhang, Cyrus Becker, András Váradi, Viola Pomozi

Exp Dermatol. Author manuscript; available in PMC 2022 Apr 4.

Published in final edited form as: Exp Dermatol. 2022 Apr; 31(4): 548–555. Published online 2021 Nov 17. doi: 10.1111/exd.14498

PMCID:: PMC8977233

Abstract Article PDF–667K

Select item 894370618.

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort

Amir Hossein Saeidian, Leila Youssefian, Jianhe Huang, Andrew Touati, Hassan Vahidnezhad, Luke Kowal, Matthew Caffet, Tamara Wurst, Jagmohan Singh, Adam E. Snook, Ellen Ryu, Paolo Fortina, Sharon F. Terry, Jonathan G. Schoenecker, Jouni Uitto, Qiaoli Li

Genet Med. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Genet Med. 2022 Jan; 24(1): 75–86. Published online 2021 Nov 30. doi: 10.1016/j.gim.2021.08.011

PMCID:: PMC8943706

Abstract Article PDF–2.0M

Select item 893535919.

GGCX mutations in a patient with PXE/CL-like overlapping phenotype

Diana Li, Ellen Ryu, Amir Hossein Saeidian, Leila Youssefian, Erin Oliphant, Sharon F. Terry, Philip L. Tong, Jouni Uitto, Nikolas K. Haass, Qiaoli Li

Br J Dermatol. Author manuscript; available in PMC 2022 Mar 21.

Published in final edited form as: Br J Dermatol. 2021 Jun; 184(6): 1170–1174. Published online 2020 Nov 8. doi: 10.1111/bjd.19576

PMCID:: PMC8935359

Abstract Article PDF–724K

Select item 868448220.

A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method

Eva Bernhard, Yvonne Nitschke, Gus Khursigara, Yves Sabbagh, Yongbao Wang, Frank Rutsch

J Clin Endocrinol Metab. 2022 Jan; 107(1): 109–118. Published online 2021 Sep 9. doi: 10.1210/clinem/dgab615

PMCID:: PMC8684482

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