ReviewEndocrinology and metabolism clinics of North America2017
Genetics of Lipodystrophy.
Review in Endocrinology and metabolism clinics of North America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Bone phenotype of patients with genetic forms of lipodystrophy: a systematic review of literature.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).Orphanet journal of rare diseases · 2022Guideline
- Volanesorsen, an antisense oligonucleotide to apolipoprotein C-III, increases lipoprotein lipase activity and lowers triglycerides in partial lipodystrophy.Journal of clinical lipidologyTrial
- Effect of metreleptin treatment in congenital generalized lipodystrophy: a retrospective analysis from the MENA region.Journal of endocrinological investigation · 2026Observational
- Making a droplet: the adipogenin-seipin complex at work.Nature reviews. Endocrinology · 2026Article
- Unraveling the Mysteries of Hypoglycemia: A Case Report on Recurrent Hypoglycemic Episodes.The journal of applied laboratory medicine · 2026Article
- Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants inInternational journal of molecular sciences · 2026Article
- Energy's long game: thermogenic adipocytes and the metabolic diseases of modern life.Academia biology · 2026Article
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.Archives of endocrinology and metabolism · 2025Article
- Case Report: Metreleptin treatment enables successful pregnancy in a female with congenital generalized lipodystrophy.Frontiers in endocrinology · 2025Article
- The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.Frontiers in endocrinology · 2025Review
- A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.Frontiers in endocrinology · 2025Review
- Systems genetics analysis of human body fat distribution genes identifies adipocyte processes.Life science alliance · 2024Article
- Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma.World journal of diabetes · 2024Article
- Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.Orphanet journal of rare diseases · 2024Article
- High-throughput Second-generation Sequencing Technology Assisted Diagnosis of Familial Partial Lipodystrophy (Type 2 Kobberling-Dunnigan Syndrome): A Case Report.Combinatorial chemistry & high throughput screening · 2024Article
- Exploring lipodystrophy gene expression in adipocytes: unveiling insights into the pathogenesis of insulin resistance, type 2 diabetes, and clustering diseases (metabolic syndrome) in Asian Indians.Frontiers in endocrinology · 2024Article
- Genotype-stratified treatment for monogenic insulin resistance: a systematic review.Communications medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Lipodystrophy disorders are characterized by selective loss of fat tissue with metabolic complications including insulin resistance, hypertriglyceridemia, and nonalcoholic liver disease. These complications can be life-threatening, affect quality of life, and result in increased health care costs. Genetic discoveries have been particularly helpful in understanding the pathophysiology of these diseases, and have shown that mutations affect pathways involved in adipocyte differentiation and survival, lipid droplet formation, and lipid synthesis. In addition, genetic testing can identify patients whose phenotypes are not clearly apparent, but who may still be affected by severe metabolic complications.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.