Submicroscopic deletion involving the <i>fibroblast growth factor receptor 1</i> gene in a patient with combined pituitary hormone deficiency-Reference-Cited by-同舟云学术

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Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency

Published:2013 Issue:8 Volume:60 Page:1013-1020
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Fukami Maki¹,Iso Manami¹,Sato Naoko¹,Igarashi Maki¹,Seo Misuzu²,Kazukawa Itsuro³,Kinoshita Eiichi⁴,Dateki Sumito¹⁴,Ogata Tsutomu¹⁵

Affiliation:

1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

2. Department of Molecular Bioscience, Faculty of Life Sciences, Kyoto Sangyo University, Kyoto 603-8555, Japan

3. Department of Endocrinology, Chiba Children’s Hospital, Chiba 266-0007, Japan

4. Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501, Japan

5. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/60/8/60_EJ13-0023/_pdf

Reference14 articles.

1. 1. Miraoui H, Dwyer A, Pitteloud N (2011) Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. Mol Cell Endocrinol 346: 37-43.

2. 2. Mohammadi M, Olsen SK, Ibrahimi OA (2005) Structural basis for fibroblast growth factor receptor activation. Cytokine Growth Factor Rev 16: 107-137.

3. 3. Villanueva C, de Roux N (2010) FGFR1 mutations in Kallmann syndrome. Front Horm Res 39: 51-61.

4. 4. Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, et al. (2008) Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest 118: 2822-2831.

5. 5. Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, et al. (2010) Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA 107: 15140-15144.

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1. Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders;Genetics in Medicine;2023-09

2. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism;The Journal of Clinical Endocrinology & Metabolism;2022-05-16

3. Combined pituitary hormone deficiency in a patient with an <i>FGFR1</i> missense variant: case report and literature review;Clinical Pediatric Endocrinology;2022

4. Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders;The Journal of Clinical Endocrinology & Metabolism;2021-03-17

5. GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing;European Journal of Endocrinology;2018-03

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