ArticleAmerican journal of human genetics2013
Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 69 citations in OpenAlex.
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- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
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- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Myristoylated Neuronal Calcium Sensor-1 captures the preciliary vesicle at distal appendages.eLife · 2025Article
- Identification and functional validation of rare coding variants in genes linked to monogenic obesity.Obesity (Silver Spring, Md.) · 2024Article
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024Review
- Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant inMolecular syndromology · 2024Article
- The IFT81-IFT74 complex acts as an unconventional RabL2 GTPase-activating protein during intraflagellar transport.The EMBO journal · 2023Article
- Myristoylated Neuronal Calcium Sensor-1 captures the ciliary vesicle at distal appendages.bioRxiv : the preprint server for biology · 2023Article
- CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export.Molecular biology of the cell · 2022Article
- Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.Current genomics · 2022Review
- Identification of selection signatures in Iranian dromedary and Bactrian camels using whole genome sequencing data.Scientific reports · 2022Article
- The hypothalamus for whole-body physiology: from metabolism to aging.Protein & cell · 2022Review
- Mechanisms of Weight Control by Primary Cilia.Molecules and cells · 2022Review
- Genetic and epigenetic interplay allows rapid transgenerational adaptation to metal pollution in zebrafish.Environmental epigenetics · 2022Article
- Neuronal cilia in energy homeostasis.Frontiers in cell and developmental biology · 2022Review
- Comparative transcriptome provides insights into the selection adaptation between wild and farmed foxes.Ecology and evolution · 2021Article
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Authors and funding
23 authors at 6 institutions in 2 countries.
Funding
Abstract
Obesity is a major public health concern, and complementary research strategies have been directed toward the identification of the underlying causative gene mutations that affect the normal pathways and networks that regulate energy balance. Here, we describe an autosomal-recessive morbid-obesity syndrome and identify the disease-causing gene defect. The average body mass index of affected family members was 48.7 (range = 36.7-61.0), and all had features of the metabolic syndrome. Homozygosity mapping localized the disease locus to a region in 3q29; we designated this region the morbid obesity 1 (MO1) locus. Sequence analysis identified a homozygous nonsense mutation in CEP19, the gene encoding the ciliary protein CEP19, in all affected family members. CEP19 is highly conserved in vertebrates and invertebrates, is expressed in multiple tissues, and localizes to the centrosome and primary cilia. Homozygous Cep19-knockout mice were morbidly obese, hyperphagic, glucose intolerant, and insulin resistant. Thus, loss of the ciliary protein CEP19 in humans and mice causes morbid obesity and defines a target for investigating the molecular pathogenesis of this disease and potential treatments for obesity and malnutrition.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.