ReviewJournal of the Endocrine Society2019
Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.
Review in Journal of the Endocrine Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Classification of Congenital Leptin Deficiency.The Journal of clinical endocrinology and metabolism · 2024Pooled it
- Alternate-day fasting enhances leptin sensitivity via JMJD3-dependent epigenetic regulation of the leptin receptor in the hypothalamus.The Journal of nutritional biochemistry · 2026Article
- Maternal and offspring genome-wide association study of C-reactive protein reveals limited polygenic association with gestational diabetes mellitus.BMC genomics · 2026Article
- Clinical Improvements with Setmelanotide in a 2-Year-Old Patient with Hyperphagia and Obesity due to Leptin Receptor Deficiency: A Case Report.Obesity facts · 2026Article
- Leptin Receptor b (LEPRb) Mutations Disrupt Hypothalamic Control of the Reproductive Axis.International journal of molecular sciences · 2026Review
- Genomics Insights Into High-Latitude Adaptation of Tibetan Macaques.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review.Acta biochimica Polonica · 2026Review
- Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort.Obesity science & practice · 2025Article
- Leptin's potential mechanisms in ICU-acquired weakness.Lipids in health and disease · 2025Review
- Comparative Analysis of Aging-related Metabolic and Biological Markers between Cancer Survivors and Healthy Populations: A Systematic Review.Journal of cancer prevention · 2025Review
- Mechanism of Regulation of NaCl Homeostasis in the Distal Colon During Obesity.International journal of molecular sciences · 2025Article
- Towards Precision Medicine in Obesity: Genetic Copy Number Variations Profiling Linked to Specific Metabolic Dysregulation Patterns.International journal of molecular sciences · 2025Article
- Cross-trait multivariate GWAS confirms health implications of pubertal timing.Nature communications · 2025Article
- Epigenetic modification of hypothalamic neuropeptides and metabolic hormone receptors in metabolic health.Frontiers in endocrinology · 2025Review
- Discovery of a Novel Dual Targeting Peptide for Human Glioma: FromAdvanced pharmaceutical bulletin · 2024Article
- SEL1L-HRD1 ER-associated degradation regulates leptin receptor maturation and signaling in POMC neurons in diet-induced obesity.Research square · 2024Article
- Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.Molecular genetics and genomics : MGG · 2023Review
- Novel homozygous leptin receptor mutation in an infant with monogenic obesity.Pediatric endocrinology, diabetes, and metabolism · 2023Article
- The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits.Nature reviews. Endocrinology · 2022Review
- Effects of Heterozygous Variants in the Leptin-Melanocortin Pathway on Roux-en-Y Gastric Bypass Outcomes: a 15-Year Case-Control Study.Obesity surgery · 2022Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several case series of extreme early-onset obesity due to mutations in the human leptin receptor (LEPR) gene have been reported. In this review we summarize published functional and phenotypic data on mutations in the human LEPR gene causing severe early-onset obesity. Additionally, we included data on six new cases from our obesity center. Literature research was performed using PubMed and OMIM. Functional relevance of mutations was estimated based on reported functional analysis, mutation size, and location, as well as phenotypic characteristics of affected patients. We identified 57 cases with 38 distinct LEPR mutations. We found severe early-onset obesity, hyperphagia, and hypogonadotropic hypogonadism as cardinal features of a complete loss of LEPR function. Other features, for example, metabolic disorders and recurring infections, were variable in manifestation. Obesity degree or other manifestations did not aggregate by genotype. Few patients underwent bariatric surgery with variable success. Most mutations occurred in the fibronectin III and cytokine receptor homology II domains, whereas none was found in cytoplasmic domain.
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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.