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Items: 1 to 20 of 39

1.
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes
Atsushi Hattori, Atsuhito Seki, Naoto Inaba, Kazuhiko Nakabayashi, Kazue Takeda, Kuniko Tatsusmi, Yasuhiro Naiki, Akie Nakamura, Keisuke Ishiwata, Kenji Matsumoto, Michiyo Nasu, Kohji Okamura, Toshimi Michigami, Yuko Katoh-Fukui, Akihiro Umezawa, Tsutomu Ogata, Masayo Kagami, Maki Fukami
Sci Rep. 2024; 14: 8069. Published online 2024 Apr 5. doi: 10.1038/s41598-024-58530-9
PMCID:
PMC10997625
AbstractArticlePDF–1.1M
2.
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Priyanka Srivastava, Ankita Tyagi, Chitra Bhardwaj, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mandal
J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 41–49. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2023.2023-3-13
PMCID:
PMC10938528
AbstractArticlePDF–817K
3.
Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant
Julia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, Franco Laccone, Dorota Garczarczyk-Asim, Matthias Hilkenmeier, Philipp Steinbauer, Andreas R. Janecke
Genes (Basel) 2023 Apr; 14(4): 877. Published online 2023 Apr 7. doi: 10.3390/genes14040877
PMCID:
PMC10138022
AbstractArticlePDF–1.3M
4.
Genetic Analysis and Sonography Characteristics in Fetus with SHOX Haploinsufficiency
Lushan Li, Fang Fu, Ru Li, Xiangyi Jing, Qiuxia Yu, Hang Zhou, You Wang, Xin Yang, Min Pan, Jin Han, Li Zhen, Dongzhi Li, Can Liao
Genes (Basel) 2023 Jan; 14(1): 140. Published online 2023 Jan 4. doi: 10.3390/genes14010140
PMCID:
PMC9858840
AbstractArticlePDF–399K
5.
Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri‐Weill dyschondrosteosis
Antonella Fanelli, Silvia Vannelli, Deepak Babu, Simona Mellone, Alessia Cucci, Alice Monzani, Wael Al Essa, Andrea Secco, Antonia Follenzi, Simonetta Bellone, Flavia Prodam, Mara Giordano
Mol Genet Genomic Med. 2022 Jan; 10(1): e1793. Published online 2021 Nov 23. doi: 10.1002/mgg3.1793
PMCID:
PMC8801136
AbstractArticlePDF–835K
6.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
7.
Impact of cytosine methylation on DNA binding specificities of human transcription factors
Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale
Science. Author manuscript; available in PMC 2021 Mar 30.
Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239
PMCID:
PMC8009048
AbstractArticlePDF–2.6M
8.
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
Deepak Babu, Silvia Vannelli, Antonella Fanelli, Simona Mellone, Ave Maria Baffico, Lucia Corrado, Wael Al Essa, Anna Grandone, Simonetta Bellone, Alice Monzani, Giulia Vinci, Luisa De Sanctis, Liborio Stuppia, Flavia Prodam, Mara Giordano
Eur J Hum Genet. 2021 Jan; 29(1): 110–121. Published online 2020 Jul 9. doi: 10.1038/s41431-020-0676-y
PMCID:
PMC7852508
AbstractArticlePDF–1.1M
9.
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu
J Clin Res Pediatr Endocrinol. 2020 Dec; 12(4): 358–365. Published online 2020 Nov 25. doi: 10.4274/jcrpe.galenos.2020.2019.0001
PMCID:
PMC7711637
AbstractArticlePDF–711K
10.
Rare and de novo duplications containing SHOX in clubfoot
Brooke Sadler, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett
J Med Genet. 2020 Dec; 57(12): 851–857. Published online 2020 Jun 9. doi: 10.1136/jmedgenet-2020-106842
PMCID:
PMC7688552
AbstractArticlePDF–635K
11.
Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region
Maki Fukami, Yasuko Fujisawa, Hiroyuki Ono, Tomoko Jinno, Tsutomu Ogata
Genome Biol Evol. 2020 Nov; 12(11): 1961–1964. Published online 2020 Aug 12. doi: 10.1093/gbe/evaa168
PMCID:
PMC7608489
AbstractArticlePDF–265K
12.
A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells
Jennifer Danzig, Michael A. Levine
J Pediatr Endocrinol Metab. Author manuscript; available in PMC 2020 May 31.
Published in final edited form as: J Pediatr Endocrinol Metab. 2012; 25(9-10): 889–895. doi: 10.1515/jpem-2012-0173
PMCID:
PMC7261515
AbstractArticlePDF–809K
13.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
14.
SHOX CNE9/10 Knockout in U2OS Osteosarcoma Cells and Its Effects on Cell Growth and Apoptosis
Xue-Jiao Xu, Shi-Jie Xin, Hui-Ying Mao, Hui-Jiao Zhang, Lan-Ni Chen, Li Li, Hua-Lei Bai, Hai-Hua Huang, Min Zhu
Med Sci Monit. 2020; 26: e921233-1–e921233-8. Prepublished online 2020 Feb 1. Published online 2020 Feb 7. doi: 10.12659/MSM.921233
PMCID:
PMC7020756
AbstractArticlePDF–562K
15.
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke‐Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold
EMBO Mol Med. 2016 Dec; 8(12): 1455–1469. Published online 2016 Nov 14. doi: 10.15252/emmm.201606623
PMCID:
PMC5167135
AbstractArticlePDF–3.2M
16.
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature
Kenan Delil, Halil Gürhan Karabulut, Bülent Hacıhamdioğlu, Zeynep Şıklar, Merih Berberoğlu, Gönül Öçal, Ajlan Tükün, Hatice Ilgın Ruhi
J Clin Res Pediatr Endocrinol. 2016 Jun; 8(2): 144–149. Published online 2016 Jun 6. doi: 10.4274/jcrpe.2307
PMCID:
PMC5096468
AbstractArticlePDF–168K
17.
Expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritis-like disease of the temporomandibular joint in postnatal mice
Wenna Liang, Xihai Li, Houhuang Chen, Xiang Shao, Xuejuan Lin, Jianying Shen, Shanshan Ding, Jie Kang, Candong Li
Mol Med Rep. 2016 Oct; 14(4): 3676–3682. Published online 2016 Sep 5. doi: 10.3892/mmr.2016.5715
PMCID:
PMC5042736
AbstractArticlePDF–2.8M
18.
A Track Record on SHOX: From Basic Research to Complex Models and Therapy
Antonio Marchini, Tsutomu Ogata, Gudrun A. Rappold
Endocr Rev. 2016 Aug; 37(4): 417–448. Published online 2016 Jun 29. doi: 10.1210/er.2016-1036
PMCID:
PMC4971310
AbstractArticle
19.
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
Valentina Gatta, Chiara Palka, Valentina Chiavaroli, Sara Franchi, Giovanni Cannataro, Massimo Savastano, Antonio Raffaele Cotroneo, Francesco Chiarelli, Angelika Mohn, Liborio Stuppia
BMC Med Genet. 2014; 15: 87. Published online 2014 Jul 23. doi: 10.1186/1471-2350-15-87
PMCID:
PMC4112833
AbstractArticlePDF–2.1M
20.
Replacing Shox2 with human SHOX leads to congenital disc degeneration of the temporomandibular joint in mice
Xihai Li, Hongbing Liu, Shuping Gu, Chao Liu, Cheng Sun, Yuqian Zheng, YiPing Chen
Cell Tissue Res. Author manuscript; available in PMC 2015 Feb 1.
Published in final edited form as: Cell Tissue Res. 2014 Feb; 355(2): 345–354. Published online 2013 Nov 19. doi: 10.1007/s00441-013-1743-2
PMCID:
PMC3945842
AbstractArticlePDF–6.4M

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