ReviewPflugers Archiv : European journal of physiology2017
Nail-patella syndrome.
Review in Pflugers Archiv : European journal of physiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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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.
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Who cites it
26 citing papers in PubMed, 44 citations in OpenAlex.
- Nail-patella syndrome: Lesser known but more sensitive dermatologic features than triangular lunulae.JAAD case reports · 2026Article
- Proteasome inhibition alleviates proteinuria in Lmx1b knock-in mice with dysfunctional LIM domains.Nature communications · 2026Article
- Accuracy and Completeness of Online Patient Information on Nail-Patella Syndrome: A Pilot Cross-Sectional Study.Cureus · 2026Article
- From dystrophic nails to patellar hypoplasia: a closer look at nail-patella syndrome.Clinical rheumatology · 2026Article
- Clinicopathological characteristics and cyclosporine-responsive proteinuria in nail-patella syndrome with a novel LMX1B mutation.Pediatric nephrology (Berlin, Germany) · 2026Article
- Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.Clinical nephrology. Case studies · 2026Article
- Lessons learned from a muscle study in nail-patella syndrome.Orphanet journal of rare diseases · 2025Article
- Article
- Identification of a novel missense variant in theFrontiers in genetics · 2025Article
- Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study.Scientific reports · 2024Article
- Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.Pediatric nephrology (Berlin, Germany) · 2024Article
- 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
- A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.Human genome variation · 2024Article
- Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review.Skin appendage disorders · 2023Article
- Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?Internal medicine (Tokyo, Japan) · 2023Review
- Imaging More than Skin-Deep: Radiologic and Dermatologic Presentations of Systemic Disorders.Diagnostics (Basel, Switzerland) · 2022Review
- Loss of CLDN5 in podocytes deregulates WIF1 to activate WNT signaling and contributes to kidney disease.Nature communications · 2022Article
- Robotic-Assisted Lateral Unicompartmental Knee Arthroplasty in a Patient With Nail-Patella Syndrome.Arthroplasty today · 2021Article
- Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl.Frontiers in pediatrics · 2021Article
- Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome.American journal of ophthalmology case reports · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription factor LMX1B were identified as underlying this autosomal-dominant disease. The LMX1B gene is expressed in a variety of tissues, and the symptoms are reflected nicely by its expression pattern. LMX1B is essential for dorso-ventral pattern formation in the limbs, for differentiation of the anterior portions of the eyes, for development of certain neuron populations in the central nervous system, and for the differentiation and maintenance of podocytes. Accordingly, kidney biopsies of patients with nail-patella syndrome show an altered podocyte structure and defects in the glomerular basement membrane. Recent evidence suggests that LMX1B regulates genes which encode proteins associated with the actin cytoskeleton.
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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.