Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients With Short Stature

Author:

Amano Naoko1,Mukai Tokuo23,Ito Yoshiya43,Narumi Satoshi1,Tanaka Toshiaki53,Yokoya Susumu63,Ogata Tsutomu73,Hasegawa Tomonobu13

Affiliation:

1. Department of Pediatrics (N.A., S.N., T.H.), Keio University School of Medicine, Tokyo 160–8582, Japan

2. Department of Pediatrics (T.M.), Asahikawa-Kosei General Hospital, Asahikawa 078–8211, Japan

3. Japan Growth Genome Consortium (T.M., Y.I., T.T., S.Y., T.O., T.H.), Hamamatsu 431–3125, Japan

4. Department of Basic Sciences (Y.I.), The Japanese Red Cross Hokkaido College of Nursing, Kitami 090–0011, Japan

5. Tanaka Growth Clinic (T.T.), Tokyo 158–0097, Japan

6. Department of Medical Subspecialties (S.Y.), National Center for Child Health and Development, Tokyo 157–0074, Japan

7. Department of Pediatrics (T.O.), Hamamatsu University School of Medicine, Hamamatsu 431–3125, Japan

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. C-natriuretic peptide: an important regulator of cartilage;Pejchalova;Mol Genet Metab,2007

2. C-type natriuretic peptide in growth: a new paradigm;Olney;Growth Horm IGF Res,2006

3. Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias;Yasoda;Endocr J,2010

4. Significance of C-type natriuretic peptide (CNP) in endochondral ossification: analysis of CNP knockout mice;Komatsu;J Bone Miner Metab,2002

5. Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia;Sogawa;J Hered,2007

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