Willer CJ, Speliotes EK, Loos RJF, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet. 2009;41(1):25–34.

Article  CAS  PubMed  Google Scholar 

Locke AE, Kahali B, Berndt SI, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 2015;518(7538):197–206.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morton GJ, Cummings DE, Baskin DG, Barsh GS, Schwartz MW. Central nervous system control of food intake and body weight. Nature. 2006;443(7109):289–95.

Article  CAS  PubMed  Google Scholar 

Elmquist JK, Elias CF, Saper CB. From lesions to leptin: hypothalamic control of food intake and body weight. Neuron. 1999;22(2):221–32.

Article  CAS  PubMed  Google Scholar 

Cui H, Lopez M, Rahmouni K. The cellular and molecular bases of leptin and ghrelin resistance in obesity. Nat Rev Endocrinol. 2017;13(6):338–51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brüning JC, Fenselau H. Integrative neurocircuits that control metabolism and food intake. Science. 2023;381(6665):eabl7398.

Article  PubMed  Google Scholar 

Farooqi IS, O’Rahilly S. Recent advances in the genetics of severe childhood obesity. Arch Dis Child. 2000;83(1):31–4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Loos RJF. Genetic causes of obesity: mapping a path forward. Trends Mol Med. 2025;31(4):319–25.

Article  CAS  PubMed  Google Scholar 

Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007;316(5826):889–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dina C, Meyre D, Gallina S, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet. 2007;39(6):724–6.

Article  CAS  PubMed  Google Scholar 

Rahimlou M, Ghobadian B, Ramezani A, Hejazi E, Mazloomzadeh S, Hejazi J. Fat mass and obesity-associated gene (FTO) rs9939609 (A/T) polymorphism and food preference in obese people with low-calorie intake and non-obese individuals with high-calorie intake. BMC Nutr. 2023;9(1):143.

Article  PubMed  PubMed Central  Google Scholar 

Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O’Rahilly S. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med. 2003;348(12):1085–95.

Article  CAS  PubMed  Google Scholar 

Zhang Y, Proenca R, Maffei M, Barone M, Leopold L, Friedman JM. Positional cloning of the mouse obese gene and its human homologue. Nature. 1994;372(6505):425–32.

Article  CAS  PubMed  Google Scholar 

Farooqi IS. Monogenic Obesity Syndromes Provide Insights Into the Hypothalamic Regulation of Appetite and Associated Behaviors. Biol Psychiatry. 2022;91(10):856–9.

Article  CAS  PubMed  Google Scholar 

Chandra B, Tung ML, Hsu Y, Scheetz T, Sheffield VC. Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future. Prog Retin Eye Res. 2022;89:101035.

Article  CAS  PubMed  Google Scholar 

Zhao Y, Rahmouni K. BBSome: a New Player in Hypertension and Other Cardiovascular Risks. Hypertension. 2022;79(2):303–13.

Article  CAS  PubMed  Google Scholar 

Tsang SH, Aycinena ARP, Sharma T. Ciliopathy: Bardet-Biedl Syndrome. Adv Exp Med Biol. 2018;1085:171–4.

Article  PubMed  Google Scholar 

Guo DF, Rahmouni K. Molecular basis of the obesity associated with Bardet-Biedl syndrome. Trends Endocrinol Metab. 2011;22(7):286–93.

CAS  PubMed  PubMed Central  Google Scholar 

Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM. Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome. Pediatr Obes. 2021;16(2):e12703.

Article  PubMed  Google Scholar 

Mykytyn K, Nishimura DY, Searby CC, et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003;72(2):429–37.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mykytyn K, Nishimura DY, Searby CC, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002;31(4):435–8.

Article  CAS  PubMed  Google Scholar 

Beales PL, Badano JL, Ross AJ, et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003;72(5):1187–99.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Croft JB, Morrell D, Chase CL, Swift M. Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. Am J Med Genet. 1995;55(1):12–5.

Article  CAS  PubMed  Google Scholar 

Li M, Li Y, Wen T, Zhou H, Xie W. Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report. J Int Med Res. 2024;52(8):3000605241274239.

Article  PubMed  Google Scholar 

Benzinou M, Walley A, Lobbens S, et al. Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes. 2006;55(10):2876–82.

Article  CAS  PubMed  Google Scholar 

Lim ET, Liu YP, Chan Y, et al. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. Am J Hum Genet. 2014;95(5):509–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hendricks AE, Bochukova EG, Marenne G, et al. Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Sci Rep. 2017;7(1):4394.

Article  PubMed  PubMed Central  Google Scholar 

Day SE, Muller YL, Koroglu C, et al. Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians. Obesity (Silver Spring). 2021;29(4):748–54.

Article  CAS  PubMed  Google Scholar 

Horwitz A, Birk R. Adipose Tissue Hyperplasia and Hypertrophy in Common and Syndromic Obesity-The Case of BBS Obesity. Nutrients. 2023;15(15):445.

Nachury MV, Loktev AV, Zhang Q, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129(6):1201–13.

Article  CAS  PubMed  Google Scholar 

Loktev AV, Zhang Q, Beck JS, et al. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell. 2008;15(6):854–65.

Article  CAS  PubMed  Google Scholar 

Zhang Q, Nishimura D, Vogel T, et al. BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J Cell Sci. 2013;126(Pt 11):2372–80.

CAS  PubMed  PubMed Central