- ►diabetesjournals.org F Stutzmann, K Tan, V Vatin, C Dina, B Jouret, … - Diabetes, 2008 - Am Diabetes Assoc RESULTS— Of the MC4R nonsynonymous mutations found in obese subjects, 68%
resulted in a loss of function in vitro. They were found in 1.72% of obese
versus 0.15% of nonobesed subjects (P = 6.9 × 10 −10 ). Among the ... Cited by 10 - Related articles - All 5 versions
CL Roth, M Ludwig, J Woelfle, ZC Fan, H … - Endocrine, 2009 - Springer Abstract This study targeted the identification of muta- tions of melanocortin-4
receptor gene (MC4R) in obese children. Fifty-one unrelated probands with early
onset severe obesity (body mass index (BMI) [99th percentile; 21 girls, ... Cited by 3 - Related articles - All 2 versions
K Tan, ID Pogozheva, GSH Yeo, D Hadaschik, … - Endocrinology, 2009 - Endocrine Soc Mutations in the melanocortin 4 receptor (MC4R) gene are the most common known
cause of monogenic human obesity. The MC4R gene was sequenced in 2000 subjects
with severe early-onset obesity. We detected seven different nonsense and ... Cited by 4 - Related articles - All 4 versions
Z Xiang, ID Pogozheva, NB Sorenson, AM … - Biochemistry, 2007 - pubs.acs.org Because you do not have JavaScript enabled, the Quick Search functionality is
not displayed here. Please enable JavaScript or use the Advanced Search Page. ... This work was supported by NIH Grants R01DK063974 (CHL), R01DK57080 ... Cited by 4 - Related articles - All 4 versions
E Rettenbacher, P Tarnow, H Brumm, D … - Experimental and clinical endocrinology & diabetes: …, 2007 - ncbi.nlm.nih.gov BACKGROUND: Functionally relevant mutations in the melanocortin-4 receptor gene
( MC4R) currently display the most common major gene/allele effect on extreme
obesity. OBJECTIVE: Mutation screen of the MC4R in consecutively ... Cited by 6 - Related articles - All 4 versions
- ►diabetesjournals.org [PDF] F Stutzmann, K Tan, V Vatin, C Dina, B Jouret, … - Diabetes, 2008 - Am Diabetes Assoc Page 1. Prevalence of MC4R deficiency in European population and their
age-dependant penetrance in multi-generational pedigrees Fanny ... Cited by 4 - Related articles - All 2 versions
J Krakoff, L Ma, S Kobes, WC Knowler, RL … - Diabetes, 2008 - Am Diabetes Assoc RESULTS—Among the 3,074 subjects, 43 were heterozygous for R165Q and 14 for
NT100 (frequency = 0.007 and 0.002). Mean (± SD) BMI was higher among subjects
with R165Q (39.3 ± 8.6 kg/m 2 ) or NT100 (41.2 ± 7.8) than subjects ... Cited by 6 - Related articles - All 4 versions
K Valli-Jaakola, JJ Palvimo, M Lipsanen- … - Horm Res, 2006 - content.karger.com Background/Aims: Mutations in melanocortin-4 receptor (MC4R) are the most common
genetic cause of human obesity. Mutations in MC4R promoter could also underlie
obesity, but have so far not been reported. Transcription factor nescient ... Cited by 7 - Related articles - BL Direct - All 8 versions
T Wangensteen, ML Kolsgaard, M Mattingsdal, … - Exp Clin Endocrinol Diabetes, 2009 - thieme-connect.com Results: Nine mutations were identified, of which four were novel and five
previously described. The prevalence of MC4R mutations was 1.6% in pediatric and
0.8% in adult patients. All four novel mutations, I69R, M79I, I195S, and ... Cited by 2 - Related articles - All 3 versions
ZC Fan, YX Tao - Journal of Cellular and Molecular Medicine, 2009 - interscience.wiley.com As the most common monogenic form of human obesity, about 130 naturally
occurring melanocortin-4 receptor (MC4R) gene mutations have been identified. In
this study, we reported detailed functional characterization of ten novel ... Cited by 2 - Related articles - All 2 versions
