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Select item 110396121.

ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder

Matthias Przyklenk, Shreya Karmacharya, Debora Bonasera, Arthur-Lauri Pasanen-Zentz, Stanislav Kmoch, Mats Paulsson, Raimund Wagener, Gianmaria Liccardi, Alvise Schiavinato

Sci Rep. 2024; 14: 9321. Published online 2024 Apr 23. doi: 10.1038/s41598-024-59901-y

PMCID:: PMC11039612

Abstract Article PDF–6.6M

Select item 88420432.

Hypotony Maculopathy After Trabeculectomy in a Patient With GAPO Syndrome

Selim Genc, Emre Guler, Hanefi Cakir, Osman Salkaci, Fehim Esen

Beyoglu Eye J. 2019; 4(1): 51–53. Published online 2019 Apr 8. doi: 10.14744/bej.2019.83007

PMCID:: PMC8842043

Abstract Article PDF–1.0M

Select item 49882453.

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report

Julio C. Salas-Alanís, Claire A. Scott, Oscar R. Fajardo-Ramírez, Carola Duran, María G. Moreno-Treviño, David P. Kelsell

Mol Syndromol. 2016 Jul; 7(3): 160–163. Published online 2016 Jun 2. doi: 10.1159/000446619

PMCID:: PMC4988245

Abstract Article PDF–142K

Select item 43325764.

Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome

Yavuz Bayram, Davut Pehlivan, Ender Karaca, Tomasz Gambin, Shalini N. Jhangiani, Serkan Erdin, Claudia Gonzaga-Jauregui, Wojciech Wiszniewski, Donna Muzny, Baylor-Hopkins Center for Mendelian Genomics, Nursel H. Elcioglu, M. Selman Yildirim, Banu Bozkurt, Ayse Gul Zamani, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2015 Feb 18.

Published in final edited form as: Am J Med Genet A. 2014 Sep; 0(9): 2328–2334. Published online 2014 Jul 14. doi: 10.1002/ajmg.a.36678

PMCID:: PMC4332576

Abstract Article PDF–914K

Select item 39124295.

GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension

Nishant Goyal, Hitesh Gurjar, Bhawani Shankar Sharma, Manjari Tripathi, P Sarat Chandra

BMJ Case Rep. 2014; 2014: bcr2013201727. Published online 2014 Jan 28. doi: 10.1136/bcr-2013-201727

PMCID:: PMC3912429

Abstract Article PDF–557K

Select item 36446266.

Mutations in ANTXR1 Cause GAPO Syndrome

Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, Maha S. Zaki, Amit Chaudhary, Enrique Zudaire, Lenka Nosková, Veronika Barešová, Anna Přistoupilová, Kateřina Hodaňová, Jana Sovová, Helena Hůlková, Lenka Piherová, Jayne Y. Hehir-Kwa, Deepthi de Silva, Manouri P. Senanayake, Sameh Farrag, Jiří Zeman, Pavel Martásek, Alice Baxová, Hanan H. Afifi, Brad St. Croix, Han G. Brunner, Samia Temtamy, Stanislav Kmoch

Am J Hum Genet. 2013 May 2; 92(5): 792–799. doi: 10.1016/j.ajhg.2013.03.023

PMCID:: PMC3644626

Abstract Article PDF–595K

Select item 59330537.

A Biallelic ANTXR1 Variant Expands the Anthrax Toxin Receptor Associated Phenotype to Tooth Agenesis

Nuriye Dinckan, Renqian Du, Zeynep Coban Akdemir, Yavuz Bayram, Shalini Jhiangiani, Harsha Doddapaneni, Jianhong Hu, Donna M. Muzny, Yeliz Guven, Oya Aktoren, Hulya Kayserili, Eric Boerwinkle, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Zehra Oya Uyguner, Ariadne Letra

Am J Med Genet A. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Am J Med Genet A. 2018 Apr; 176(4): 1015–1022. Published online 2018 Feb 13. doi: 10.1002/ajmg.a.38625

PMCID:: PMC5933053

Abstract Article PDF–714K

Select item 109946808.

Distribution of TGFBI variants in patients with early onset glaucoma

Viney Gupta, Arnav Panigrahi, Bindu I. Somarajan, Shikha Gupta, Koushik Tripathy, Abhishek Singh, Anshul Sharma, Radhika Tandon, Dibyabhaba Pradhan, Arundhati Sharma, Tushar Kushwaha, Krishna K. Inampudi

Mol Vis. 2023; 29: 365–377. Published online 2023 Dec 26.

PMCID:: PMC10994680

Abstract Article PDF–631K

Select item 89431929.

Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection

Paula R. Chen, Raymond R. R. Rowland, Ana M. Stoian, Vlad Petrovan, Maureen Sheahan, Charan Ganta, Giselle Cino-Ozuna, Dae Young Kim, James M. Dunleavey, Kristin M. Whitworth, Melissa S. Samuel, Lee D. Spate, Raissa F. Cecil, Joshua A. Benne, Xingyu Yan, Ying Fang, Brad St. Croix, Kelly Lechtenberg, Kevin D. Wells, Randall S. Prather

Sci Rep. 2022; 12: 5009. Published online 2022 Mar 23. doi: 10.1038/s41598-022-09123-x

PMCID:: PMC8943192

Abstract Article PDF–2.2M

Select item 717807910.

Antxr1, Which is a Target of Runx2, Regulates Chondrocyte Proliferation and Apoptosis

Qing Jiang, Xin Qin, Carolina Andrea Yoshida, Hisato Komori, Kei Yamana, Shinsuke Ohba, Hironori Hojo, Brad St. Croix, Viviane K. S. Kawata-Matsuura, Toshihisa Komori

Int J Mol Sci. 2020 Apr; 21(7): 2425. Published online 2020 Mar 31. doi: 10.3390/ijms21072425

PMCID:: PMC7178079

Abstract Article PDF–8.1M

Select item 669445511.

Converging physiological roles of the anthrax toxin receptors

Oksana A. Sergeeva, F. Gisou van der Goot

Version 1. F1000Res. 2019; 8: F1000 Faculty Rev-1415. Published online 2019 Aug 12. doi: 10.12688/f1000research.19423.1

PMCID:: PMC6694455

Abstract Article PDF–1.5M

Select item 547847512.

Cell autonomous ANTXR1-mediated regulation of extracellular matrix components in primary fibroblasts

Kai Hu, Bjorn R. Olsen, Tatiana Y. Besschetnova

Matrix Biol. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Matrix Biol. 2017 Oct; 62: 105–114. Published online 2016 Dec 20. doi: 10.1016/j.matbio.2016.12.002

PMCID:: PMC5478475

Abstract Article PDF–1024K

Select item 440953013.

Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis

Tatiana Y. Besschetnova, Takaharu Ichimura, Negin Katebi, Brad St. Croix, Joseph V. Bonventre, Bjorn R. Olsen

Matrix Biol. Author manuscript; available in PMC 2016 Mar 1.

Published in final edited form as: Matrix Biol. 2015 Mar; 42: 56–73. Published online 2015 Jan 5. doi: 10.1016/j.matbio.2014.12.002

PMCID:: PMC4409530

Abstract Article PDF–3.4M

Select item 977748314.

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Barbara Torres, Annalisa Piccinetti, Roberto Pippi, Rita Mancini

Diagnostics (Basel) 2022 Dec; 12(12): 2997. Published online 2022 Nov 30. doi: 10.3390/diagnostics12122997

PMCID:: PMC9777483

Abstract Article PDF–2.0M

Select item 506176215.

Regulatory mechanisms of skeletal and connective tissue development and homeostasis – lessons from studies of human disorders

Bjorn R. Olsen, Agnes D. Berendsen, Tatiana Y. Besschetnova, Xuchen Duan, Kai Hu

Int J Exp Pathol. 2016 Aug; 97(4): 296–302. Published online 2016 Sep 1. doi: 10.1111/iep.12198

PMCID:: PMC5061762

Abstract Article PDF–394K

Select item 1101499216.

Mitochondrial fusion and altered beta-oxidation drive muscle wasting in a Drosophila cachexia model

Callum Dark, Nashia Ali, Sofya Golenkina, Vaibhav Dhyani, Ronnie Blazev, Benjamin L Parker, Kate T Murphy, Gordon S Lynch, Tarosi Senapati, S Sean Millard, Sarah M Judge, Andrew R Judge, Lopamudra Giri, Sarah M Russell, Louise Y Cheng

EMBO Rep. 2024 Apr; 25(4): 1835–1858. Published online 2024 Mar 1. doi: 10.1038/s44319-024-00102-z

PMCID:: PMC11014992

Abstract Article PDF–6.2M

Select item 1094848917.

The causal association between circulating cytokines with the risk of frailty and sarcopenia under the perspective of geroscience

Congzhi Wang, Jiazhi Wang, Rui Wan, Hiroshi Kurihara, Min Wang

Front Endocrinol (Lausanne) 2024; 15: 1293146. Published online 2024 Mar 5. doi: 10.3389/fendo.2024.1293146

PMCID:: PMC10948489

Abstract Article PDF–5.0M

Select item 1087635618.

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report: Síndrome de microcefalia-coriorretinopatia, forma autossômica recessiva. Um relato de caso

Rafael Fabiano Machado Rosa, Flávia Enk, Korine Camargo, Giovanni Marco Travi, André Freitas, Rosana Cardoso Manique Rosa, Carla Graziadio, Vinicius Freitas de Mattos, Paulo Ricardo Gazzola Zen

Sao Paulo Med J. 2015; 133(4): 377–380. Published online 2014 Oct 17. doi: 10.1590/1516-3180.2013.7930003

PMCID:: PMC10876356

Abstract Article PDF–1.1M

Select item 1080402019.

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

Claudio Fiorini, Andrea Degiorgi, Maria Lucia Cascavilla, Concetta Valentina Tropeano, Chiara La Morgia, Marco Battista, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Francesco Bandello, Valerio Carelli, Alessandra Maresca, Piero Barboni, Enrico Baruffini, Leonardo Caporali

J Med Genet. 2024 Jan; 61(1): 93–101. Published online 2023 Sep 21. doi: 10.1136/jmg-2023-109340

PMCID:: PMC10804020

Abstract Article PDF–4.4M

Select item 1025322720.

Genome-Wide Screening in Human Embryonic Stem Cells Highlights the Hippo Signaling Pathway as Granting Synthetic Viability in ATM Deficiency

Ruth Viner-Breuer, Tamar Golan-Lev, Nissim Benvenisty, Michal Goldberg

Cells. 2023 Jun; 12(11): 1503. Published online 2023 May 29. doi: 10.3390/cells12111503

PMCID:: PMC10253227

Abstract Article PDF–2.1M

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