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Items: 1 to 20 of 500

1.
Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome
Ana Luisa Priego Zurita, Oana O. Bulaicon, Jillian Bryce, Nerea Arrieta, Magdalena Caballero Campos, Mariya Cherenko, Gaby Doxiadis, Corinna Grasemann, M. Kassim Javaid, Helen McDevitt, Stijn W. van der Meeren, Diana Ovejero Crespo, Luisa de Sanctis, Lothar Seefried, Annemarie A. Verrijn Stuart, Daniele Tessaris, Pieter Bas de Witte, Roland Chapurlat, S. Faisal Ahmed, Natasha M. Appelman-Dijkstra
Calcif Tissue Int. 2025; 116(1): 68. Published online 2025 May 2. doi: 10.1007/s00223-025-01379-5
PMCID:
PMC12048454
ArticlePDF–918K
2.
Monoallelic TYROBP deletion is a novel risk factor for Alzheimer’s disease
Henna Martiskainen, Roosa-Maria Willman, Päivi Harju, Sami Heikkinen, Mette Heiskanen, Stephan A. Müller, Rosa Sinisalo, Mari Takalo, Petra Mäkinen, Teemu Kuulasmaa, Viivi Pekkala, Ana Galván del Rey, Sini-Pauliina Juopperi, Heli Jeskanen, Inka Kervinen, Kirsi Saastamoinen, FinnGen, Marja Niiranen, Sami V. Heikkinen, Mitja I. Kurki, Jarkko Marttila, Petri I. Mäkinen, Hannah Rostalski, Tomi Hietanen, Tiia Ngandu, Jenni Lehtisalo, Céline Bellenguez, Jean-Charles Lambert, Christian Haass, Juha Rinne, Juhana Hakumäki, Tuomas Rauramaa, Johanna Krüger, Hilkka Soininen, Annakaisa Haapasalo, Stefan F. Lichtenthaler, Ville Leinonen, Eino Solje, Mikko Hiltunen
Mol Neurodegener. 2025; 20: 50. Published online 2025 Apr 29. doi: 10.1186/s13024-025-00830-3
PMCID:
PMC12038944
ArticlePDF–2.4M
3.
Blue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis
Saad Hayat, Ahmad Roshan Mayan, Malik WZ Khan, Qazi Jawad Hayat
J Investig Med High Impact Case Rep. 2025 Jan-Dec; 13: 23247096251334237. Published online 2025 Apr 12. doi: 10.1177/23247096251334237
PMCID:
PMC12033654
ArticlePDF–1.3M
4.
The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta
Siji Zhou, Xiuzhi Ren, Yixuan Cao, Huan Mi, Mingchen Han, Lulu Li, Chendan Jiang, Yuqian Ye, Chaoqun Zheng, Binshan Zhao, Tao Yang, Nan Wu, Zhen Li, Lingqian Wu, Xiuli Zhao
Genes (Basel) 2025 Apr; 16(4): 416. Published online 2025 Mar 31. doi: 10.3390/genes16040416
PMCID:
PMC12026677
ArticlePDF–2.7M
5.
Downregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology
Akiko Saito, Kazuaki Nagayama, Hiroyuki Okada, Shoko Onodera, Natsuko Aida, Takashi Nakamura, Takashi Sawada, Hironori Hojo, Shigeaki Kato, Toshifumi Azuma
Proc Natl Acad Sci U S A. 2025 Apr 15; 122(15): e2320138122. Published online 2025 Apr 10. doi: 10.1073/pnas.2320138122
PMCID:
PMC12012476
ArticlePDF–13M
6.
Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders
Dilek Uludağ Alkaya, Esra Usluer, Zeynep Alp Ünkar, Ali Şeker, İbrahim Adaletli, Nilay Güneş, Rıza Madazlı, Pınar Kadıoğlu, Murat Derbent, Beyhan Tüysüz
Calcif Tissue Int. 2025; 116(1): 59. Published online 2025 Apr 8. doi: 10.1007/s00223-025-01366-w
PMCID:
PMC11978542
ArticlePDF–1.3M
7.
Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population
Mirgul Bayanova, Aigerim Abilova, Marzhan Rakhimzhanova, Assiya Bazenova, Lyazzat Nazarova, Dias Malik, Naanlep Matthew Tanko, Nursulu Altaeva, Aidos Bolatov
Sci Rep. 2025; 15: 11223. Published online 2025 Apr 2. doi: 10.1038/s41598-025-95877-z
PMCID:
PMC11965289
ArticlePDF–2.3M
8.
SUGAR-seq reveals the transcriptome and N-linked glycosylation landscape of mononuclear phagocytes at single-cell resolution in a mouse model of autosomal dominant osteopetrosis type 2
Yu Sha, Lingyu Huang, Lei Zhang, Xianliang Hou, Chune Mo, Cuiping Pan, Gengshuo Chen, Sha Luo, Minglin Ou
BMC Biol. 2025; 23: 91. Published online 2025 Mar 31. doi: 10.1186/s12915-025-02193-z
PMCID:
PMC11959739
ArticlePDF–10M
9.
Genomic regions occupied by both RARα and VDR are involved in the convergence and cooperation of retinoid and vitamin D signaling pathways
Hamidreza Mianesaz, Loránd Göczi, Gergely Nagy, Szilárd Póliska, Lina Fadel, Dóra Bojcsuk, András Penyige, Krisztina Szirák, Farah AlHaman, László Nagy, György Vámosi, Lajos Széles
Nucleic Acids Res. 2025 Apr 11; 53(6): gkaf230. Published online 2025 Apr 1. doi: 10.1093/nar/gkaf230
PMCID:
PMC11959543
ArticlePDF–3.3M
10.
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis
Dong Li, Niels Mailand, Emma Ewing, Saskia Hoffmann, Richard C. Caswell, Lewis Pang, Jacqueline Eason, Ying Dou, Kathleen E. Sullivan, Hakon Hakonarson, Michael A. Levine
JCI Insight. 2025 Mar 24; 10(6): e186862. Published online 2025 Feb 11. doi: 10.1172/jci.insight.186862
PMCID:
PMC11949059
ArticlePDF–2.4M
11.
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
Artem Borovikov, Nailya Galeeva, Andrey Marakhonov, Aysylu Murtazina, Varvara Kadnikova, Kseniya Davydenko, Anna Orlova, Peter Sparber, Tatiana Markova, Maria Orlova, Darya Osipova, Tatyana Nagornova, Natalia Semenova, Olga Levchenko, Alexandra Filatova, Margarita Sharova, Peter Vasiluev, Ilya Kanivets, Denis Pyankov, Artem Sharkov, Vasilisa Udalova, Vladimir Kenis, Natalia Nikitina, Maria Sumina, Konstantin Zherdev, Aleksandr Petel'guzov, Oleg Chelpachenko, Pavel Zubkov, Ivan Dan, Andrey Snetkov, Alexandra Akinshina, Yury Buklemishev, Oxana Ryzhkova, Vyacheslav Tabakov, Ekaterina Zakharova, Sergey Korostelev, Rena Zinchenko, Mikhail Skoblov, Alexander Polyakov, Elena Dadali, Sergey Kutsev, Olga Shchagina
Hum Mutat. 2024; 2024: 8849348. Published online 2024 Feb 12. doi: 10.1155/2024/8849348
PMCID:
PMC11918999
ArticlePDF–1.8M
12.
Osteomesopyknosis: A Bone-Sclerosing Disorder that May be Confused with Bone Metastases
José A. Riancho, Alvaro del Real, Ana I. Vega, Rosa Landeras, Anibal Ferrerira, Ana C. Ferreira, Jose Sainz, Remedios Quirce, Eva Martínez de Castro
Calcif Tissue Int. 2025; 116(1): 53. Published online 2025 Mar 14. doi: 10.1007/s00223-025-01361-1
PMCID:
PMC11909070
ArticlePDF–766K
13.
Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years
Anastasiia Milovanova, Petr Ananin, Tatiana Vashurina, Olga Zrobok, Svetlana Dmitrienko, Alla Ryaposova, Elena Tsygina, Alexander Pushkov, Ilya Zhanin, Daria Chudakova, Aliy Asanov, Olga Shchagina, Aleksander Polyakov, Andrey Fisenko, Kirill Savostyanov, Alexey Tsygin
Int J Mol Sci. 2025 Feb; 26(4): 1744. Published online 2025 Feb 18. doi: 10.3390/ijms26041744
PMCID:
PMC11855709
ArticlePDF–961K
14.
A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family
Mengxiao Liu, Hao Zheng, Zhixiang Li, Runfei Pang, Yang Niu, Lei Yang, Zhenxiang Zhang, Jianguo Xia, Xiuhong Pang
BMC Med Genomics. 2025; 18: 36. Published online 2025 Feb 24. doi: 10.1186/s12920-025-02101-y
PMCID:
PMC11853305
ArticlePDF–6.7M
15.
Dynamic properties of transcriptional condensates modulate CRISPRa-mediated gene activation
Yujuan Fu, Xiaoxuan Yang, Sihui Li, Chenyang Ma, Yao An, Tao Cheng, Ying Liang, Shengbai Sun, Tianyi Cheng, Yongyang Zhao, Jianghu Wang, Xiaoyue Wang, Pengfei Xu, Yafei Yin, Hongqing Liang, Nan Liu, Wei Zou, Baohui Chen
Nat Commun. 2025; 16: 1640. Published online 2025 Feb 14. doi: 10.1038/s41467-025-56735-8
PMCID:
PMC11828908
ArticlePDF–8.5M
16.
Hsa-miR-637 inhibits human hepatocyte proliferation by targeting Med1-interacting proteins
Jing Liu, Jianyun Zhu, Xiaohong Zhang, Yuzhi Jia, Xuejun Lee, Zhiliang Gao
Liver Res. 2021 Jun; 5(2): 88–96. Published online 2021 Jan 23. doi: 10.1016/j.livres.2021.01.002
PMCID:
PMC11791805
ArticlePDF–1.6M
17.
Stüve–Wiedemann syndrome with a novel variant in the LIFR gene: A case report
Hanan Sakr Sherbiny, Jaber A. Alfaifi, Anees Obaid Ahmed, Hany Hassan, Raydaa Abdullah, Shaher A. Alsuwat, Raghad M. Al-Juaid, Aseel A. Neyaz, Mohammed A. M. Oshi, Naglaa M. Kamal
Medicine (Baltimore) 2025 Jan 31; 104(5): e41342. Published online 2025 Jan 31. doi: 10.1097/MD.0000000000041342
PMCID:
PMC11789910
ArticlePDF–686K
18.
Neonatal Familiar Cleidocranial Dysplasia: A Case Report
Shimeng Zhao, Tongtong Wang, Haipeng Yang, Riyan Huang
Am J Case Rep. 2025; 26: e946322. Published online 2025 Jan 26. doi: 10.12659/AJCR.946322
PMCID:
PMC11784996
ArticlePDF–654K
19.
A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome
Sujie Xiong, Guangyao Hu, Yao Zhou, Fei Sun, Yanlin Ma
Hereditas. 2025; 162: 11. Published online 2025 Jan 29. doi: 10.1186/s41065-025-00375-x
PMCID:
PMC11776157
ArticlePDF–3.5M
20.
Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology
Sara J. E. Verdonk, Silvia Storoni, Lidiia Zhytnik, Dimitra Micha, Joost G. van den Aardweg, Otto Kamp, Elisabeth M. W. Eekhoff, Marianna Bugiani
Pediatr Dev Pathol. 2025 Jan-Feb; 28(1): 24–30. Published online 2024 Aug 27. doi: 10.1177/10935266241272511
PMCID:
PMC11762339
ArticlePDF–2.0M

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