ArticleGenes2019
Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Classification of Congenital Leptin Deficiency.The Journal of clinical endocrinology and metabolism · 2024Pooled it
- [Genetic Susceptibility to Metabolic Syndrome: A Comparative Overview of the Mexican Population in a Global Context].Revista medica del Instituto Mexicano del Seguro Social · 2026Review
- Leptin Receptor b (LEPRb) Mutations Disrupt Hypothalamic Control of the Reproductive Axis.International journal of molecular sciences · 2026Review
- Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review.Acta biochimica Polonica · 2026Review
- Article
- Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.Human molecular genetics · 2025Article
- Response to long-term pharmacological management of metreleptin in a patient with monogenic obesity due to mutation in the LEP gene.Cardiovascular diabetology. Endocrinology reports · 2025Article
- Genetic Landscape of Obesity in Children: Research Advances and Prospects.Journal of obesity · 2025Review
- Novel compound heterozygous mutations inMolecular genetics and metabolism reports · 2024Article
- Impact of Resistance and Endurance Training on Ghrelin and Plasma Leptin Levels in Overweight and Obese Subjects.International journal of molecular sciences · 2024Review
- Nrf2 Signaling Pathway as a Key to Treatment for Diabetic Dyslipidemia and Atherosclerosis.International journal of molecular sciences · 2024Review
- A Saudi Heart Association Position Statement on Obesity and Cardiovascular Disease.Journal of the Saudi Heart Association · 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
- Alteration in the number of neuronal and non-neuronal cells in mouse models of obesity.Brain communications · 2023Article
- Leptin Signaling in Obesity and Colorectal Cancer.International journal of molecular sciences · 2022Review
- Cross-Talk Between Gut Microbiota and Adipose Tissues in Obesity and Related Metabolic Diseases.Frontiers in endocrinology · 2022Review
- Sparse System Identification of Leptin Dynamics in Women With Obesity.Frontiers in endocrinology · 2022Article
- First Account of Psychological Changes Perceived by a Female with Congenital Leptin Deficiency upon Treatment with Metreleptin.Obesity facts · 2022Article
- A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.Molecular and cellular pediatrics · 2021Review
- Impaired Leptin Signalling in Obesity: Is Leptin a New Thermolipokine?International journal of molecular sciences · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (
methodsWe present two severely obese sisters from Colombia, members of the same lineal consanguinity. Their serum leptin was measured by MicroELISA. DNA sequencing was performed on MiSeq equipment (Illumina) of a next-generation sequencing (NGS) panel involving genes related to severe obesity, including
resultsDirect sequencing of the coding region of
conclusionsThe mutation of
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.