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Select item 109976251.

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

Abstract Article PDF–1.1M

Select item 109385282.

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

Abstract Article PDF–817K

Select item 101380223.

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

Abstract Article PDF–1.3M

Select item 98588404.

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

Abstract Article PDF–399K

Select item 88011365.

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

Abstract Article PDF–835K

Select item 78525086.

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

Abstract Article PDF–1.1M

Select item 77116377.

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

Abstract Article PDF–711K

Select item 76084898.

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

Abstract Article PDF–265K

Select item 72615159.

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

Abstract Article PDF–809K

Select item 702075610.

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

Abstract Article PDF–562K

Select item 509646811.

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

Abstract Article PDF–168K

Select item 497131012.

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

Abstract Article

Select item 323036413.

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Verónica Barca-Tierno, Miriam Aza-Carmona, Eva Barroso, Damia Heine-Suner, Dimitar Azmanov, Jordi Rosell, Begoña Ezquieta, Lucia Sentchordi Montané, Teresa Vendrell, Jaime Cruz, Fernando Santos, José Ignacio Rodríguez, Jesús Pozo, Jesús Argente, Luba Kalaydjieva, Ricardo Gracía, Ángel Campos-Barros, Sara Benito-Sanz, Karen E Heath

Eur J Hum Genet. 2011 Dec; 19(12): 1218–1225. Published online 2011 Jun 29. doi: 10.1038/ejhg.2011.128

PMCID:: PMC3230364

Abstract Article PDF–476K

Select item 315909914.

Evaluation of SHOX copy number variations in patients with Müllerian aplasia

Maria Sandbacka, Mervi Halttunen, Varpu Jokimaa, Kristiina Aittomäki, Hannele Laivuori

Orphanet J Rare Dis. 2011; 6: 53. Published online 2011 Aug 2. doi: 10.1186/1750-1172-6-53

PMCID:: PMC3159099

Abstract Article PDF–393K

Select item 306324915.

Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression

Claudia Durand, Ralph Roeth, Harsh Dweep, Irena Vlatkovic, Eva Decker, Katja Ute Schneider, Gudrun Rappold

PLoS One. 2011; 6(3): e18115. Published online 2011 Mar 23. doi: 10.1371/journal.pone.0018115

PMCID:: PMC3063249

Abstract Article PDF–1.4M

Select item 259798016.

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, Beate Niesler

J Med Genet. 2007 May; 44(5): 306–313. Published online 2006 Dec 20. doi: 10.1136/jmg.2006.046581

PMCID:: PMC2597980

Abstract Article PDF–168K

Select item 259796617.

Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature

Alexander A L Jorge, Ivo J P Arnhold

J Med Genet. 2007 Oct; 44(10): e90.

PMCID:: PMC2597966

Article PDF–86K

Select item 256457318.

High incidence of SHOX anomalies in individuals with short stature

C Huber, M Rosilio, A Munnich, V Cormier‐Daire

J Med Genet. 2006 Sep; 43(9): 735–739. Published online 2006 Apr 5. doi: 10.1136/jmg.2006.040998

PMCID:: PMC2564573

Abstract Article PDF–152K

Select item 173487719.

SHOX point mutations in dyschondrosteosis

C. Huber, V. Cusin, M. Le Merrer, M. Mathieu, V. Sulmont, N. Dagoneau, A. Munnich, V. Cormier-Daire

J Med Genet. 2001 May; 38(5): 323. doi: 10.1136/jmg.38.5.323

PMCID:: PMC1734877

Summary PDF–91K

Select item 155948820.

Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots

Sara Benito-Sanz, Darya Gorbenko del Blanco, Céline Huber, N. Simon Thomas, Miriam Aza-Carmona, David Bunyan, Vivienne Maloney, Jesús Argente, Valérie Cormier-Daire, Ángel Campos-Barros, Karen E. Heath

Am J Hum Genet. 2006 Aug; 79(2): 409–414. doi: 10.1086/506390