Heterozygous rare genetic variants in non-syndromic early-onset obesity

Autor: Francesc Bou de Pieri, Jesús Argente, Julie A. Chowen, Gabriel Á. Martos-Moreno, Raquel Flores, Luis A. Pérez-Jurado, Clara Serra-Juhé

Publikováno v: Biblos-e Archivo. Repositorio Institucional de la UAM
instname
International Journal of Obesity (2005)

Background: Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe obesity. Novel therapeutic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db3b54fedfda11bdb64d43db0cd846cf
http://hdl.handle.net/10486/688674

ENDO 2024 ABSTRACTS.

Publikováno v: Journal of the Endocrine Society; 2024 Supplement, Vol. 8, pA1-A1192, 3359p

Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics

Autor: Bang Sun, Xi Wang, Jiangfeng Mao, Zhiyuan Zhao, Wei Zhang, Min Nie, Xueyan Wu

Publikováno v: Frontiers in Genetics, Vol 12 (2022)

Purpose:CHD7 rare variants can cause congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome. We aimed to summarize the genotype and phenotype characteristics of CHH patients with CHD7 rare variants.Methods: Rare sequencing variants (RSVs)

Externí odkaz: https://doaj.org/article/a2b0f1cab6ae4939b6b8f4e7a786210b

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Autor: Xu, Cheng, Messina, Andrea, Somm, Emmanuel, Miraoui, Hichem, Kinnunen, Tarja, Acierno, James, Niederländer, Nicolas J, Bouilly, Justine, Dwyer, Andrew A, Sidis, Yisrael, Cassatella, Daniele, Sykiotis, Gerasimos P, Quinton, Richard, De Geyter, Christian, Dirlewanger, Mirjam, Schwitzgebel, Valérie, Cole, Trevor R, Toogood, Andrew A, Kirk, Jeremy MW, Plummer, Lacey

Publikováno v: EMBO Molecular Medicine; Oct2017, Vol. 9 Issue 10, p1379-1397, 19p

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

Autor: Serra-Juhé C; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader, 8, 08003, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, C/Sinesio Delgado, 4, 28029, Madrid, Spain., Martos-Moreno GÁ; Hospital Infantil Universitario Niño Jesús, Department of Endocrinology, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Avenida Menéndez Pelayo, 65, 28009, Madrid, Spain.; CIBER de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, C/Sinesio Delgado, 4, 28029, Madrid, Spain., Bou de Pieri F; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader, 8, 08003, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, C/Sinesio Delgado, 4, 28029, Madrid, Spain., Flores R; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader, 8, 08003, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, C/Sinesio Delgado, 4, 28029, Madrid, Spain., Chowen JA; Hospital Infantil Universitario Niño Jesús, Department of Endocrinology, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Avenida Menéndez Pelayo, 65, 28009, Madrid, Spain.; CIBER de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, C/Sinesio Delgado, 4, 28029, Madrid, Spain., Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM), C/Doctor Aiguader, 8, 08003, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, C/Sinesio Delgado, 4, 28029, Madrid, Spain.; Women's and Children's Hospital, South Australia Medical and Health Research Institute (SAMHRI) and University of Adelaide, 72 King William Road, North Adelaide, SA, 5006, Australia., Argente J; Hospital Infantil Universitario Niño Jesús, Department of Endocrinology, Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Department of Pediatrics, Avenida Menéndez Pelayo, 65, 28009, Madrid, Spain. jesus.argente@uam.es.; CIBER de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, C/Sinesio Delgado, 4, 28029, Madrid, Spain. jesus.argente@uam.es.; IMDEA Food Institute, CEIUAM + CSI, Crta. de Cantoblanco, 8, 28049, Madrid, Spain. jesus.argente@uam.es.

Publikováno v: International journal of obesity (2005) [Int J Obes (Lond)] 2020 Apr; Vol. 44 (4), pp. 830-841. Date of Electronic Publication: 2019 Mar 29.