ReviewNucleus (Austin, Tex.)2018
Lipodystrophic laminopathies: Diagnostic clues.
Review in Nucleus (Austin, Tex.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 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
25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Pooled it
- Clinical Spectrum ofCells · 2023Pooled it
- Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- An Unbiased Drug Screen in a Drosophila Model ofInternational journal of molecular sciences · 2026Article
- Early-onset type 1 diabetes mellitus in a child with a pathogenicTranslational pediatrics · 2026Article
- Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.Diabetology & metabolic syndrome · 2024Article
- Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.International journal of molecular sciences · 2024Review
- Navigating Lipodystrophy: Insights from Laminopathies and Beyond.International journal of molecular sciences · 2024Review
- NovelFrontiers in genetics · 2024Article
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2024Article
- Senescence-associated inflammation and inhibition of adipogenesis in subcutaneous fat in Werner syndrome.Aging · 2023Article
- Lipodystrophy-associated progeroid syndromes.Hormones (Athens, Greece) · 2022Review
- Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.Frontiers in pediatrics · 2022Article
- Adipocyte-Specific Deletion of Lamin A/C Largely Models Human Familial Partial Lipodystrophy Type 2.Diabetes · 2021Article
- Nuclear Envelope Integrity in Health and Disease: Consequences on Genome Instability and Inflammation.International journal of molecular sciences · 2021Review
- Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene.Journal of clinical medicine · 2021Article
- Partial Lipodystrophy and LMNA p.R545H Variant.Journal of clinical medicine · 2021Article
- Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.Human molecular genetics · 2021Article
- Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.Frontiers in endocrinology · 2021Article
- [Recognize rare diseases by the adipose tissue : Lipodystrophy-actually simple but nevertheless often overlooked].Der Internist · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery. Laminopathies are tissue-specific or systemic disorders caused by variants in LMNA gene (primary laminopathies) or in other genes encoding proteins which are playing some role in prelamin A maturation or in lamin A/C function (secondary laminopathies). Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial lipodystrophy and certain premature aging syndromes. This work summarizes the main clinical features of these syndromes, their associated comorbidities and the clues for the differential diagnosis with other lipodystrophic disorders.
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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.