ArticleNature communications2021
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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
22 citing papers in PubMed, 32 citations in OpenAlex.
- Epigenetic regulation of vertebrate limb development: from field specification to tissue morphogenesis.Epigenetics · 2026Review
- The origin and evolution of dorsal determination mechanisms in vertebrate paired appendages.Current biology : CB · 2026Article
- Temporal loss ofGenes & development · 2026Article
- Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.European journal of human genetics : EJHG · 2026Article
- Dorsoventral limb patterning in paired appendages emerged via regulatory repurposing of an ancestral posterior fin module.Molecular biology and evolution · 2026Article
- Evolutionary pathway and genetic mechanisms of fin-to-limb transition in vertebrates.Frontiers in cell and developmental biology · 2026Review
- Clinical characteristics and target exploration via scRNA-seq and high-throughput drug screening of FOXO1 fusion positive rhabdomyosarcoma.Pediatric surgery international · 2025Article
- Article
- LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.NPJ genomic medicine · 2025Article
- Identification of a novel missense variant in theFrontiers in genetics · 2025Article
- Convergent Degenerated Regulatory Elements Associated with Limb Loss in Limbless Amphibians and Reptiles.Molecular biology and evolution · 2024Article
- Overview of chromatin regulatory processes during surface ectodermal development and homeostasis.Developmental biology · 2024Review
- The limb dorsoventral axis: Lmx1b's role in development, pathology, evolution, and regeneration.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Review
- The development of hair follicles and nail.Developmental biology · 2024Review
- The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.BMC musculoskeletal disorders · 2024Article
- Article
- Article
- POSTRE: a tool to predict the pathological effects of human structural variants.Nucleic acids research · 2023Article
- Sox, Fox, and Lmx1b binding sites differentially regulate a Gdf5-Associated regulatory region during elbow development.Frontiers in cell and developmental biology · 2023Article
- Enhancer-gene specificity in development and disease.Development (Cambridge, England) · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in mice, Lmx1b has been shown to play crucial roles in the development of the limb, kidney and eye. Although one functional allele of Lmx1b appears adequate for development, Lmx1b null mice display ventral-ventral distal limbs with abnormal kidney, eye and cerebellar development, more disruptive, but fully concordant with NPS. In Lmx1b functional knockouts (KOs), Lmx1b transcription in the limb is decreased nearly 6-fold, indicating autoregulation. Herein, we report on two conserved Lmx1b-associated cis-regulatory modules (LARM1 and LARM2) that are bound by Lmx1b, amplify Lmx1b expression with unique spatial modularity in the limb, and are necessary for Lmx1b-mediated limb dorsalization. These enhancers, being conserved across vertebrates (including coelacanth, but not other fish species), and required for normal locomotion, provide a unique opportunity to study the role of dorsalization in the fin to limb transition. We also report on two NPS patient families with normal LMX1B coding sequence, but with loss-of-function variations in the LARM1/2 region, stressing the role of regulatory modules in disease pathogenesis.
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.