Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity-Reference-Cited by-同舟云学术

Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity

Published:2019-02-27 Issue:7 Volume:104 Page:2961-2970
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

De Rosa Maria Caterina¹,Chesi Alessandra²³,McCormack Shana⁴⁵,Zhou Justin¹,Weaver Benjamin⁶,McDonald Molly⁷,Christensen Sinead⁷,Liimatta Kalle¹,Rosenbaum Michael¹⁸,Hakonarson Hakon⁵⁹¹⁰,Doege Claudia A¹⁸¹¹,Grant Struan F A²³⁴⁵⁹,Hirschhorn Joel N¹²¹³¹⁴,Thaker Vidhu V¹⁸^ORCID

Affiliation:

1. Division of Molecular Genetics, Columbia University Medical Center, New York, New York

2. Center for Spatial and Functional Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

3. Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

4. Division of Endocrinology and Diabetes, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

5. Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania

6. School of Medicine, Boston University School of Medicine, Boston, Massachusetts

7. Centers for Clinical and Translational Research, Boston Children’s Hospital, Boston, Massachusetts

8. Naomi Berrie Diabetes Center, Columbia University Medical Center, New York, New York

9. Department of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania

10. Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

11. Columbia Stem Cell Initiative, Columbia University Medical Center, New York, New York

12. Center for Basic and Translational Obesity Research and Division of Endocrinology, Boston Children’s Hospital, Boston, Massachusetts

13. Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, Massachusetts

14. Departments of Pediatrics and Genetics, Harvard Medical School, Boston, Massachusetts

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

National Center for Advancing Translational Sciences

Columbia University Medical Center

Children's Hospital of Philadelphia

New York State Department of Health

Harvard Catalyst

Yale Center for Mendelian Genomics

Baylor Hopkins Center for Mendelian Genomics

National Institutes of Health

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/104/7/2961/28760489/jc.2018-02657.pdf

Reference34 articles.

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2. MC4R-expressing glutamatergic neurons in the paraventricular hypothalamus regulate feeding and are synaptically connected to the parabrachial nucleus;Shah;Proc Natl Acad Sci USA,2014

3. Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity;Santoro;BMC Med Genet,2009

4. Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort;Vollbach;Int J Obes,2017

5. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene;Farooqi;N Engl J Med,2003

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