ArticleAmerican journal of human genetics1998
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 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
63 citing papers in PubMed, 172 citations in OpenAlex.
- 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
- Unstructured transcription factor interactions enable emergent specificity.Science (New York, N.Y.) · 2026Article
- Article
- Prenatal opioid exposure alters pain perception and increases long-term health risks in infants with neonatal opioid withdrawal syndrome.Frontiers in pain research (Lausanne, Switzerland) · 2025Article
- 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
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- Multidisciplinary approach in diagnosis and treatment of Fong disease.Journal of surgical case reports · 2024Article
- Bone-cartilage crosstalk informed by aging mouse bone transcriptomics and human osteoarthritis genome-wide association studies.Bone reports · 2023Article
- Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome.Arthroplasty today · 2023Article
- Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?Internal medicine (Tokyo, Japan) · 2023Review
- Monogenic focal segmental glomerulosclerosis: A conceptual framework for identification and management of a heterogeneous disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Transcription Factor Lmx1b Negatively Regulates Osteoblast Differentiation and Bone Formation.International journal of molecular sciences · 2022Article
- Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.Human genetics · 2022Article
- Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.Nature communications · 2021Article
- Nails in systemic disease.Clinical medicine (London, England) · 2021Article
- Genetic background modifies vulnerability to glaucoma-related phenotypes inDisease models & mechanisms · 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
- Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report.Biomedical reports · 2020Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 10 institutions in 6 countries.
Funding
Abstract
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
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.