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Items: 1 to 20 of 1681

1.
Bone fragility in sarcoidosis and relationships with calcium metabolism disorders: a cross sectional study on 142 patients
Nathalie Saidenberg-Kermanac’h, Luca Semerano, Hilario Nunes, Danielle Sadoun, Xavier Guillot, Marouane Boubaya, Nicolas Naggara, Dominique Valeyre, Marie-Christophe Boissier
Arthritis Res Ther. 2014; 16(2): R78. Published online 2014 Mar 24. doi: 10.1186/ar4519
PMCID:
PMC4060172
ArticlePDF–568K
2.
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide
PLoS One. 2020; 15(9): e0239965. Published online 2020 Sep 30. doi: 10.1371/journal.pone.0239965
PMCID:
PMC7527205
ArticlePDF–710K
3.
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
ArticlePDF–4.0M
4.
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A
Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska, Domenico Corica
BMC Pediatr. 2024; 24: 271. Published online 2024 Apr 25. doi: 10.1186/s12887-024-04761-8
PMCID:
PMC11044326
ArticlePDF–981K
5.
Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review
Dorota Leszczyńska, Alicja Szatko, Julia Latocha, Magdalena Kochman, Maria Duchnowska, Anna Wójcicka, Waldemar Misiorowski, Wojciech Zgliczyníski, Piotr Glinicki
Front Endocrinol (Lausanne) 2024; 15: 1355916. Published online 2024 Apr 11. doi: 10.3389/fendo.2024.1355916
PMCID:
PMC11043563
ArticlePDF–1.1M
6.
Characterization of Atherosclerotic Mice Reveals a Sex-Dependent Susceptibility to Plaque Calcification but No Major Changes in the Lymphatics in the Arterial Wall
Carolin Christ, Zsombor Ocskay, Gábor Kovács, Zoltán Jakus
Int J Mol Sci. 2024 Apr; 25(7): 4046. Published online 2024 Apr 5. doi: 10.3390/ijms25074046
PMCID:
PMC11012298
ArticlePDF–3.9M
7.
Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2)
Xuefei Chen, Chaochun Zou
Mol Genet Genomic Med. 2024 Apr; 12(4): e2433. Published online 2024 Apr 9. doi: 10.1002/mgg3.2433
PMCID:
PMC11002637
ArticlePDF–2.8M
8.
Bone marrow-derived exosomes promote inflammation and osteoclast differentiation in high-turnover renal osteodystrophy
Rao Fu, Kexin Meng, Rui Zhang, Xuanyi Du, Jundong Jiao
Ren Fail. 2023; 45(2): 2264396. Published online 2023 Oct 23. doi: 10.1080/0886022X.2023.2264396
PMCID:
PMC11001343
ArticlePDF–5.1M
9.
Genetic profile of a large Spanish cohort with hypercalcemia
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Calcium Phosphorus Metabolism Molecular Biology Group, Luis Castaño
Front Endocrinol (Lausanne) 2024; 15: 1297614. Published online 2024 Mar 22. doi: 10.3389/fendo.2024.1297614
PMCID:
PMC10998451
ArticlePDF–640K
10.
Latin-American consensus on the transition into adult life of patients with X-linked hypophosphatemia
Maria Sofia Kastelic, Alejandro Roman-González, Guido De Paula Colares Neto, Francisco J. A. De Paula, Alfredo Adolfo Reza-Albarrán, Lilian Reyes Morales, Silvina Tormo, Adriana Isabel Meza-Martínez
Endocrine. 2024; 84(1): 76–91. Published online 2023 Dec 20. doi: 10.1007/s12020-023-03624-z
PMCID:
PMC10987342
ArticlePDF–2.6M
11.
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant
Mohammed Shahab Uddin, AlZahra Y. Alradhi, Fahad Mushbb N. Alqathani, Othman Saleh Alessa, Ahmed Nawfal M. Alshammari, Ratna Tripathy, Mohammed Ahmed Alomari
Am J Case Rep. 2024; 25: e942498-1–e942498-10. Published online 2024 Mar 26. doi: 10.12659/AJCR.942498
PMCID:
PMC10985420
ArticlePDF–687K
12.
Advanced glycation end products promote meniscal calcification by activating the mTOR-ATF4 positive feedback loop
Sheng Yang, JiaJun Xie, ZhiJie Pan, HongMei Guan, YueSheng Tu, YuanJian Ye, ShouBin Huang, ShiQiang Fu, KangXian Li, ZhiWei Huang, XiaoQi Li, ZhanJun Shi, Le Li, Yang Zhang
Exp Mol Med. 2024 Mar; 56(3): 630–645. Published online 2024 Mar 1. doi: 10.1038/s12276-024-01190-6
PMCID:
PMC10985079
ArticlePDF–8.4M
13.
GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B
Yorihiro Iwasaki, Monica Reyes, Harald Jüppner, Murat Bastepe
JCI Insight. 2024 Mar 8; 9(5): e177190. Published online 2024 Jan 30. doi: 10.1172/jci.insight.177190
PMCID:
PMC10972583
ArticlePDF–4.0M
14.
Metabolomics of Plasma in XLH Patients with Arterial Hypertension: New Insights into the Underlying Mechanisms
Luis Carlos López-Romero, José Jesús Broseta, Marta Roca-Marugán, Juan R. Muñoz-Castañeda, Agustín Lahoz, Julio Hernández-Jaras
Int J Mol Sci. 2024 Mar; 25(6): 3545. Published online 2024 Mar 21. doi: 10.3390/ijms25063545
PMCID:
PMC10971556
ArticlePDF–1.2M
15.
Hypomethylation of the LncRNA H19 promoter accelerates osteogenic differentiation of vascular smooth muscle cells by activating the Erk1/2 pathways
Taoxia Wang, Meijuan Cheng, Jingjing Jin, Yaling Bai, Dongxue Zhang, Shenglei Zhang, Jinsheng Xu
J Int Med Res. 2024 Mar; 52(3): 03000605241234567. Published online 2024 Mar 26. doi: 10.1177/03000605241234567
PMCID:
PMC10966982
ArticlePDF–1.2M
16.
Prevalence of c-myc expression in breast lesions associated with microcalcifications detected by routine mammography
Renato Coimbra Mazzini, Simone Elias, Afonso Celso Pinto Nazário, Cláudio Kemp, Ângela Flávia Logullo
Sao Paulo Med J. 2009; 127(2): 66–70. Published online 2009 Jul 6. doi: 10.1590/S1516-31802009000200003
PMCID:
PMC10964804
ArticlePDF–154K
17.
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, Chun-xiu Gong
Orphanet J Rare Dis. 2024; 19: 126. Published online 2024 Mar 19. doi: 10.1186/s13023-024-03135-8
PMCID:
PMC10953066
ArticlePDF–2.1M
18.
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia
Sarah A. Howles, Caroline M. Gorvin, Treena Cranston, Angela Rogers, Anna K. Gluck, Hannah Boon, Kate Gibson, Mushtaqur Rahman, Allen Root, M. Andrew Nesbit, Fadil M. Hannan, Rajesh V. Thakker
J Bone Miner Res. 2023 Jun; 38(6): 907–917. Published online 2023 Apr 18. doi: 10.1002/jbmr.4803
PMCID:
PMC10947407
ArticlePDF–2.5M
19.
Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation
Sébastien Thériault, Zhonglin Li, Erik Abner, Jian’an Luan, Hasanga D. Manikpurage, Ursula Houessou, Pardis Zamani, Mewen Briend, Estonian Biobank Research Team, Dominique K. Boudreau, Nathalie Gaudreault, Lily Frenette, Déborah Argaud, Manel Dahmene, François Dagenais, Marie-Annick Clavel, Philippe Pibarot, Benoit J. Arsenault, S. Matthijs Boekholdt, Nicholas J. Wareham, Tõnu Esko, Patrick Mathieu, Yohan Bossé
Nat Commun. 2024; 15: 2407. Published online 2024 Mar 18. doi: 10.1038/s41467-024-46639-4
PMCID:
PMC10944835
ArticlePDF–2.0M
20.
Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia
Chien-Ming Lin, Yi-Xuan Ding, Shih-Ming Huang, Ying-Chuan Chen, Hwei-Jen Lee, Chih-Chien Sung, Shih-Hua Lin
Front Endocrinol (Lausanne) 2024; 15: 1291160. Published online 2024 Feb 29. doi: 10.3389/fendo.2024.1291160
PMCID:
PMC10937390
ArticlePDF–5.5M

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