| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Matthias Przyklenk, Shreya Karmacharya, Debora Bonasera, Arthur-Lauri Pasanen-Zentz, Stanislav Kmoch, Mats Paulsson, Raimund Wagener, Gianmaria Liccardi, Alvise Schiavinat. ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder. Scientific reports. vol 14. issue 1. 2024-04-24. PMID:38653789. |
pathogenic variants in antxr1 lead to the rare gapo syndrome, named for its four primary features: growth retardation, alopecia, pseudoanodontia, and optic atrophy. |
2024-04-24 |
2024-04-26 |
human |
| Surya Balakrishnan, Iravathy Goud, Madhavi Latha Teegal. Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review. European journal of medical genetics. 2024-02-29. PMID:38423276. |
gapo syndrome is a rare genetic condition caused by bi-allelic variants in antxr1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. |
2024-02-29 |
2024-03-03 |
Not clear |
| Nuriye Dinckan, Renqian Du, Zeynep C Akdemir, Yavuz Bayram, Shalini N Jhangiani, 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 O Uyguner, Ariadne Letr. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. American journal of medical genetics. Part A. vol 176. issue 4. 2019-02-28. PMID:29436111. |
mutations in antxr1 have been associated with gapo (growth retardation, alopecia, pseudoanodontia, and optic atrophy) syndrome and infantile hemangioma, however no clinical characteristics associated with these conditions were observed in our study family. |
2019-02-28 |
2023-08-13 |
mouse |
| Bjorn R Olsen, Agnes D Berendsen, Tatiana Y Besschetnova, Xuchen Duan, Kai H. Fell-Muir Lecture: Regulatory mechanisms of skeletal and connective tissue development and homeostasis - lessons from studies of human disorders. International journal of experimental pathology. vol 97. issue 4. 2017-07-17. PMID:27581728. |
studies of a mouse model of the growth retardation, alopecia, pseudo-anodontia and optic atrophy (gapo) syndrome, caused by the loss-of-function mutations in antxr1, as well as knock-in mice carrying the ala-to-thr antxr1 mutation, confirm that antxr1 functions as a suppressor of vegf-a signalling. |
2017-07-17 |
2023-08-13 |
mouse |