ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 2 results

ey0017.11-2 | New Genetic Findings | ESPEYB17

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

M Baron , J Maillet , M Huyvaert , A Dechaume , R Boutry , H Loiselle , E Durand , B Toussaint , E Vaillant , J Philippe , J Thomas , A Ghulam , S Franc , G Charpentier , JM Borys , C Levy-Marchal , M Tauber , R Scharfmann , J Weill , C Aubert , J Kerr-Conte , F Pattou , R Roussel , B Balkau , M Marre , M Boissel , M Derhourhi , S Gaget , M Canouil , P Froguel , A Bonnefond

To read the full abstract: Nature Medicine. 2019;25(11):1733–8. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....
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ey0015.11-5 | New Developments in Monogenic Obesity | ESPEYB15

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

S Saeed , A Bonnefond , F Tamanini , MU Mirza , J Manzoor , QM Janjua , SM Din , J Gaitan , A Milochau , E Durand , E Vaillant , A Haseeb , F De Graeve , I Rabearivelo , O Sand , G Queniat , R Boutry , DA Schott , H Ayesha , M Ali , WI Khan , TA Butt , T Rinne , C Stumpel , A Abderrahmani , J Lang , M Arslan , P Froguel

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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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