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Select item 60777841.

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Ivo J H M de Vos, Evelyn Yaqiong Tao, Sheena Li Ming Ong, Julian L Goggi, Thomas Scerri, Gabrielle R Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P A Stegmann, Michel van Geel, Renske Janssen, David J Amor, Melanie Bahlo, Norris R Dunn, Thomas J Carney, Paul J Lockhart, Barry J Coull, Maurice A M van Steensel

Hum Mol Genet. 2018 Aug 15; 27(16): 2775–2788. Published online 2018 May 8. doi: 10.1093/hmg/ddy168

PMCID:: PMC6077784

Abstract Article PDF–1.6M

Select item 36207982.

Winchester syndrome

G. Matthiesen, V. Faurholt Pedersen, P. Helin, G. Krag Jacobsen, N. Søe Nielsen

Int Orthop. 2001 Oct; 25(5): 331–333. Published online 2001 Sep 11. doi: 10.1007/s002640100276

PMCID:: PMC3620798

Summary PDF–36K

Select item 35120023.

Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome

Brad R. Evans, Rebecca A. Mosig, Mollie Lobl, Chiara R. Martignetti, Catalina Camacho, Valerie Grum-Tokars, Marc J. Glucksman, John A. Martignetti

Am J Hum Genet. 2012 Sep 7; 91(3): 572–576. doi: 10.1016/j.ajhg.2012.07.022

PMCID:: PMC3512002

Abstract Article PDF–948K

Select item 105031014.

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo, Outi Mäkitie, Sadaf Naz

BMC Musculoskelet Disord. 2023; 24: 735. Published online 2023 Sep 14. doi: 10.1186/s12891-023-06856-2

PMCID:: PMC10503101

Abstract Article PDF–1.9M

Select item 100708925.

A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature

Marjan Shakiba, Fariba Alaei

Heliyon. 2023 Apr; 9(4): e14865. Published online 2023 Mar 24. doi: 10.1016/j.heliyon.2023.e14865

PMCID:: PMC10070892

Abstract Article PDF–1.5M

Select item 83964206.

Clinical Radiological and Molecular Profile of a Patient Affected With Multicentric Osteolysis Nodulosis and Arthropathy

Eleftherios Mandragos, Dimitris Myrgiotis, Spyridon Strongylos, Yvonne-Mary Papamerkouriou, John Michelarakis

Cureus. 2021 Jul; 13(7): e16615. Published online 2021 Jul 25. doi: 10.7759/cureus.16615

PMCID:: PMC8396420

Abstract Article PDF–1.9M

Select item 82833167.

Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

Hanan Elsebaie, Mohamed Abdelhafiz Mansour, Solaf M. Elsayed, Shady Mahmoud, Tamer A. El-Sobky

Bone Rep. 2021 Dec; 15: 101106. Published online 2021 Jul 10. doi: 10.1016/j.bonr.2021.101106

PMCID:: PMC8283316

Abstract Article PDF–1.8M

Select item 66876248.

A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy

Liisa Kröger, Tuija Löppönen, Leena Ala‐Kokko, Heikki Kröger, Hanna‐Mari Jauhonen, Kaisa Lehti, Jarmo Jääskeläinen

Mol Genet Genomic Med. 2019 Aug; 7(8): e802. Published online 2019 Jul 3. doi: 10.1002/mgg3.802

PMCID:: PMC6687624

Abstract Article PDF–780K

Select item 50431879.

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

Karin Pichler, Daniela Karall, Dieter Kotzot, Elisabeth Steichen-Gersdorf, Alexandra Rümmele-Waibel, Laureane Mittaz-Crettol, Julia Wanschitz, Luisa Bonafé, Kathrin Maurer, Andrea Superti-Furga, Sabine Scholl-Bürgi

Sci Rep. 2016; 6: 34017. Published online 2016 Sep 30. doi: 10.1038/srep34017

PMCID:: PMC5043187

Abstract Article PDF–878K

Select item 771642110.

Different roles of matrix metalloproteinase 2 in osteolysis of skeletal dysplasia and bone metastasis

Xiumao Li, Libin Jin, Yanbin Tan

Mol Med Rep. 2021 Jan; 23(1): 70. Published online 2020 Nov 20. doi: 10.3892/mmr.2020.11708

PMCID:: PMC7716421

Abstract Article PDF–2.1M

Select item 1057138511.

Multicentric Osteolysis Nodulosis Arthropathy Syndrome Simulating Juvenile Idiopathic Arthritis in an Adult Female: A Case Report and a Literature Review

Syed K Imam, Dhekra Alnaqeb, Mohammad Bedaiwi, Ebtissal M Khouj

Cureus. 2023 Sep; 15(9): e45152. Published online 2023 Sep 13. doi: 10.7759/cureus.45152

PMCID:: PMC10571385

Abstract Article PDF–321K

Select item 827098412.

Taurodontism in dental genetics

Manogari Chetty, Imaan A. Roomaney, Peter Beighton

BDJ Open. 2021; 7: 25. Published online 2021 Jul 9. doi: 10.1038/s41405-021-00081-6

PMCID:: PMC8270984

Abstract Article PDF–1.7M

Select item 754621513.

Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children

Hassan Sarker, Eugenio Hardy, Ayman Haimour, Mahmoud A. Karim, Sabine Scholl-Bürgi, John A. Martignetti, Lorenzo D. Botto, Carlos Fernandez-Patron

Front Physiol. 2020; 11: 568718. Published online 2020 Sep 25. doi: 10.3389/fphys.2020.568718

PMCID:: PMC7546215

Abstract Article PDF–2.0M

Select item 320384314.

The diagnosis and management of patients with idiopathic osteolysis

Ali Al Kaissi, Sabine Scholl-Buergi, Rainer Biedermann, Kathrin Maurer, Jochen G Hofstaetter, Klaus Klaushofer, Franz Grill

Pediatr Rheumatol Online J. 2011; 9: 31. Published online 2011 Oct 13. doi: 10.1186/1546-0096-9-31

PMCID:: PMC3203843

Abstract Article PDF–4.6M

Select item 398673815.

Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature

Alka V. Ekbote, Sumita Danda, Andreas Zankl, Kausik Mandal, Tina Maguire, Kobus Ungerer

J Clin Res Pediatr Endocrinol. 2014 Mar; 6(1): 40–46. Published online 2014 Mar 5. doi: 10.4274/Jcrpe.1166

PMCID:: PMC3986738

Abstract Article PDF–124K

Select item 1115377916.

Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia

Haohui Xu, Yixin Zhang, Caiqin Wang, Zhuoyan Fu, Jing Lv, Yufang Yang, Zihan Zhang, Yuanmin Qi, Kai Meng, Jinxiang Yuan, Xiaomei Wang

Front Endocrinol (Lausanne) 2024; 15: 1393111. Published online 2024 May 23. doi: 10.3389/fendo.2024.1393111

PMCID:: PMC11153779

Abstract Article PDF–1.9M

Select item 1104498417.

Evolutionary history and global spread of the Mycobacterium tuberculosis Beijing lineage

Matthias Merker, Camille Blin, Stefano Mona, Nicolas Duforet-Frebourg, Sophie Lecher, Eve Willery, Michael G B Blum, Sabine Rüsch-Gerdes, Igor Mokrousov, Eman Aleksic, Caroline Allix-Béguec, Annick Antierens, Ewa Augustynowicz-Kopeć, Marie Ballif, Francesca Barletta, Hans Peter Beck, Clifton E Barry, III, Maryline Bonnet, Emanuele Borroni, Isolina Campos-Herrero, Daniela Cirillo, Helen Cox, Suzanne Crowe, Valeriu Crudu, Roland Diel, Francis Drobniewski, Maryse Fauville-Dufaux, Sébastien Gagneux, Solomon Ghebremichael, Madeleine Hanekom, Sven Hoffner, Wei-wei Jiao, Stobdan Kalon, Thomas A Kohl, Irina Kontsevaya, Troels Lillebæk, Shinji Maeda, Vladyslav Nikolayevskyy, Michael Rasmussen, Nalin Rastogi, Sofia Samper, Elisabeth Sanchez-Padilla, Branislava Savic, Isdore Chola Shamputa, Adong Shen, Li-Hwei Sng, Petras Stakenas, Kadri Toit, Francis Varaine, Dragana Vukovic, Céline Wahl, Robin Warren, Philip Supply, Stefan Niemann, Thierry Wirth

Nat Genet. Author manuscript; available in PMC 2024 Apr 25.

Published in final edited form as: Nat Genet. 2015 Mar; 47(3): 242–249. Published online 2015 Jan 19. doi: 10.1038/ng.3195

PMCID:: PMC11044984

Abstract Article PDF–1.1M

Select item 1089366618.

Escherichia coli and their potential transmission of carbapenem and colistin-resistant genes in camels

Marwa youseef, Fatma Karam, Mona Kadry, Mahmoud Elhariri, Rehab Elhelw

BMC Microbiol. 2024; 24: 65. Published online 2024 Feb 24. doi: 10.1186/s12866-024-03215-6

PMCID:: PMC10893666

Abstract Article PDF–1.2M

Select item 1085047319.

Ciprofloxacin- and levofloxacin-loaded nanoparticles efficiently suppressed fluoroquinolone resistance and biofilm formation in Acinetobacter baumannii

Alaa M. Aboelenin, Mohammed El‑Mowafy, Noha M. Saleh, Mona I. Shaaban, Rasha Barwa

Sci Rep. 2024; 14: 3125. Published online 2024 Feb 7. doi: 10.1038/s41598-024-53441-1

PMCID:: PMC10850473

Abstract Article PDF–2.2M

Select item 1085007220.

Coculture of bacterial levans and evaluation of its anti-cancer activity against hepatocellular carcinoma cell lines

Walaa A. Abdel Wahab, Heba I. Shafey, Karima F. Mahrous, Mona A. Esawy, Shireen A. A. Saleh

Sci Rep. 2024; 14: 3173. Published online 2024 Feb 7. doi: 10.1038/s41598-024-52699-9

PMCID:: PMC10850072

Abstract Article PDF–2.6M

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