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Literature DB >> 26778095

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

Chiara Leoni¹, Roberta Onesimo¹, Valentina Giorgio², Antonella Diamanti³, Daniela Giorgio¹, Lucilla Martini¹, Aurora Rossodivita¹, Marco Tartaglia⁴, Giuseppe Zampino⁵.

Abstract

Costello syndrome is a rare multisystem disorder caused by mutations in the proto-oncogene HRAS. Failure to thrive is one of its cardinal clinical features. This study documents that individuals with Costello syndrome have increased resting energy expenditure. We speculate this could be one of the potential mechanisms causing failure to thrive.

Entities: Disease Gene

Mesh：

Year: 2016 PMID： 26778095 DOI： 10.1016/j.jpeds.2015.11.076

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

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Cited

12 in total

1. Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors: Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal: Am J Med Genet A Date: 2019-06-20 Impact factor: 2.802

2. Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.

Authors: Yu-Min Syu; Hung-Chang Lee; Jui-Hsing Chang; Chung-Lin Lee; Chih-Kuang Chuang; Huei-Ching Chiu; Ya-Hui Chang; Hsiang-Yu Lin; Shuan-Pei Lin
Journal: Children (Basel) Date: 2022-06-16

3. Mitochondria and the future of RASopathies: the emergence of bioenergetics.

Authors: Maria I Kontaridis; Saravanakkumar Chennappan
Journal: J Clin Invest Date: 2022-04-15 Impact factor: 19.456

4. Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

Authors: Roope A Kallionpää; Sirkku Peltonen; Jussi Leppävirta; Minna Pöyhönen; Kari Auranen; Hannu Järveläinen; Juha Peltonen
Journal: J Med Genet Date: 2020-06-22 Impact factor: 6.318

5. Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.

Authors: Daiju Oba; Shin-Ichi Inoue; Sachiko Miyagawa-Tomita; Yasumi Nakashima; Tetsuya Niihori; Seiji Yamaguchi; Yoichi Matsubara; Yoko Aoki
Journal: EBioMedicine Date: 2017-12-06 Impact factor: 8.143

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

1. Costello syndrome: Clinical phenotype, genotype, and management guidelines.

2. Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.

3. Mitochondria and the future of RASopathies: the emergence of bioenergetics.

4. Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

5. Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.

Review 6. The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases.

Review 7. The RASopathies: from pathogenetics to therapeutics.

Review 8. Feeding Problems in Patients with Noonan Syndrome: A Narrative Review.

9. High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorder.

10. Costello Syndrome: The Challenge of Hypoglycemia and Failure to Thrive.