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Select item 61217351.

Novel Phenotype of Achondroplasia due to Biallelic FGFR3 Pathogenic Variants

Irene J. Chang, Angela Sun, Maryse L. Bouchard, Shawn E. Kamps, Susan Hale, Stephen Done, Michael J. Goldberg, Ian A. Glass

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

Published in final edited form as: Am J Med Genet A. 2018 Jul; 176(7): 1675–1679. doi: 10.1002/ajmg.a.38839

PMCID:: PMC6121735

Abstract Article PDF–235K

Select item 53549422.

Achondroplasia: Development, Pathogenesis, and Therapy

David M. Ornitz, Laurence Legeai-Mallet

Dev Dyn. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Dev Dyn. 2017 Apr; 246(4): 291–309. Published online 2017 Mar 2. doi: 10.1002/dvdy.24479

PMCID:: PMC5354942

Abstract Article PDF–2.0M

Select item 38525013.

Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia

Masaki Matsushita, Hiroshi Kitoh, Bisei Ohkawara, Kenichi Mishima, Hiroshi Kaneko, Mikako Ito, Akio Masuda, Naoki Ishiguro, Kinji Ohno

PLoS One. 2013; 8(12): e81569. Published online 2013 Dec 4. doi: 10.1371/journal.pone.0081569

PMCID:: PMC3852501

Abstract Article PDF–1.1M

Select item 28715954.

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

PM Pollock, MG Gartside, LC Dejeza, MA Powell, MA Mallon, Cancer Genome Project, H Davies, M Mohammadi, PA Futreal, MR Stratton, JM Trent, PJ Goodfellow

Oncogene. Author manuscript; available in PMC 2010 May 17.

Published in final edited form as: Oncogene. 2007 Nov 1; 26(50): 7158–7162. Published online 2007 May 21. doi: 10.1038/sj.onc.1210529

PMCID:: PMC2871595

Abstract Article PDF–92K

Select item 13777895.

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

P L Tavormina, G A Bellus, M K Webster, M J Bamshad, A E Fraley, I McIntosh, J Szabo, W Jiang, E W Jabs, W R Wilcox, J J Wasmuth, D J Donoghue, L M Thompson, C A Francomano

Am J Hum Genet. 1999 Mar; 64(3): 722–731. doi: 10.1086/302275

PMCID:: PMC1377789

Summary PDF–582K

Select item 12879186.

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

Gary A. Bellus, Elaine B. Spector, Phyllis W. Speiser, Christine A. Weaver, Anthony T. Garber, Christine R. Bryke, Jamie Israel, Sally S. Rosengren, Melanie K. Webster, Daniel J. Donoghue, Clair A. Francomano

Am J Hum Genet. 2000 Dec; 67(6): 1411–1421. Published online 2000 Oct 27. doi: 10.1086/316892

PMCID:: PMC1287918

Abstract Article PDF–922K

Select item 110312437.

What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?

Nadia Merchant, Lynda E Polgreen, Ron G Rosenfeld

J Clin Endocrinol Metab. 2024 May; 109(5): e1410–e1414. Published online 2023 Dec 11. doi: 10.1210/clinem/dgad726

PMCID:: PMC11031243

Abstract Article

Select item 109510418.

Novel therapeutic perspectives in Noonan syndrome and RASopathies

Céline Saint-Laurent, Laurène Mazeyrie, Armelle Yart, Thomas Edouard

Eur J Pediatr. 2024; 183(3): 1011–1019. Published online 2023 Oct 21. doi: 10.1007/s00431-023-05263-y

PMCID:: PMC10951041

Abstract Article PDF–977K

Select item 108883139.

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report

Zangbéwendé Guy Ouedraogo, Caroline Janel, Alexandre Janin, Gilles Millat, Sarah Langlais, Bénédicte Pontier, Marie Biard, Mathis Lepage, Christine Francannet, Fanny Laffargue, Isabelle Creveaux

Genes (Basel) 2024 Feb; 15(2): 225. Published online 2024 Feb 10. doi: 10.3390/genes15020225

PMCID:: PMC10888313

Abstract Article PDF–2.4M

Select item 1088825710.

Exploring the Micro-Mosaic Landscape of FGFR3 Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation

Yasmin Striedner, Barbara Arbeithuber, Sofia Moura, Elisabeth Nowak, Ronja Reinhardt, Leila Muresan, Renato Salazar, Thomas Ebner, Irene Tiemann-Boege

Genes (Basel) 2024 Feb; 15(2): 191. Published online 2024 Jan 30. doi: 10.3390/genes15020191

PMCID:: PMC10888257

Abstract Article PDF–2.5M

Select item 1082218111.

Review of published 467 achondroplasia patients: clinical and mutational spectrum

XinZhong Zhang, Shan Jiang, Rui Zhang, Siyi Guo, Qiqi Sheng, Kaili Wang, Yuanyuan Shan, Lin Liao, Jianjun Dong

Orphanet J Rare Dis. 2024; 19: 29. Published online 2024 Jan 27. doi: 10.1186/s13023-024-03031-1

PMCID:: PMC10822181

Abstract Article PDF–1.2M

Select item 1070212812.

Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia

Lin Zhou, Jing Chen, Qian Liu, Shuting Yang, Wanqin Xie, Ying Peng

Front Endocrinol (Lausanne) 2023; 14: 1267946. Published online 2023 Nov 23. doi: 10.3389/fendo.2023.1267946

PMCID:: PMC10702128

Abstract Article PDF–4.6M

Select item 1045458113.

Pharmacological and Genetic Disruption of C-Type Natriuretic Peptide (nppcl) Expression in Zebrafish (Danio rerio) Causes Stunted Growth during Development

Andrew J. Lessey, Samantha M. Mirczuk, Annisa N. Chand, Deborah M. Kurrasch, Márta Korbonits, Stijn J. M. Niessen, Craig A. McArdle, Imelda M. McGonnell, Robert C. Fowkes

Int J Mol Sci. 2023 Aug; 24(16): 12921. Published online 2023 Aug 18. doi: 10.3390/ijms241612921

PMCID:: PMC10454581

Abstract Article PDF–3.2M

Select item 1033260214.

Phase 1b study on the repurposing of meclizine hydrochloride for children with achondroplasia

Masaki Matsushita, Hiroshi Kitoh, Kenichi Mishima, Yasunari Kamiya, Daisaku Kato, Genta Takemoto, Kenta Sawamura, Shinji Ueno, Nakai Yasuhiro, Kazuki Nishida, Shiro Imagama

PLoS One. 2023; 18(7): e0283425. Published online 2023 Jul 10. doi: 10.1371/journal.pone.0283425

PMCID:: PMC10332602

Abstract Article PDF–1.4M

Select item 1011679315.

Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report

Shujun Chen, Hongmei Dong, Yong Luo, Yingpin Zhang, Pan Li

BMC Med Genomics. 2023; 16: 80. Published online 2023 Apr 19. doi: 10.1186/s12920-023-01517-8

PMCID:: PMC10116793

Abstract Article PDF–1.2M

Select item 1011438016.

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari

Orphanet J Rare Dis. 2023; 18: 88. Published online 2023 Apr 18. doi: 10.1186/s13023-023-02664-y

PMCID:: PMC10114380

Abstract Article PDF–2.4M

Select item 1001581017.

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

Orphanet J Rare Dis. 2023; 18: 56. Published online 2023 Mar 15. doi: 10.1186/s13023-023-02652-2

PMCID:: PMC10015810

Abstract Article PDF–2.8M

Select item 999374718.

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report

Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz

BMC Pediatr. 2023; 23: 110. Published online 2023 Mar 8. doi: 10.1186/s12887-023-03920-7

PMCID:: PMC9993747

Abstract Article PDF–1.6M

Select item 995984219.

CurQ+, a Next-Generation Formulation of Curcumin, Ameliorates Growth Plate Chondrocyte Stress and Increases Limb Growth in a Mouse Model of Pseudoachondroplasia

Jacqueline T. Hecht, Alka C. Veerisetty, Mohammad G. Hossain, Frankie Chiu, Karen L. Posey

Int J Mol Sci. 2023 Feb; 24(4): 3845. Published online 2023 Feb 14. doi: 10.3390/ijms24043845

PMCID:: PMC9959842

Abstract Article PDF–3.6M

Select item 985895520.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

Elisabetta Sforza, Gaia Margiotta, Valentina Giorgio, Domenico Limongelli, Francesco Proli, Eliza Maria Kuczynska, Chiara Leoni, Cristina De Rose, Valentina Trevisan, Domenico Marco Romeo, Rosalinda Calandrelli, Eugenio De Corso, Luca Massimi, Osvaldo Palmacci, Donato Rigante, Giuseppe Zampino, Roberta Onesimo

Genes (Basel) 2023 Jan; 14(1): 199. Published online 2023 Jan 12. doi: 10.3390/genes14010199

PMCID:: PMC9858955

Abstract Article PDF–483K

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