ReviewPediatric nephrology (Berlin, Germany)2017
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Review in Pediatric nephrology (Berlin, Germany), 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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Who cites it
26 citing papers in PubMed, 52 citations in OpenAlex.
- Transient Nephrotic Syndrome in an Infant With Heterozygous Variants of Uncertain Significance in LMX1B and TTC21B.Cureus · 2026Article
- Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.Clinical nephrology. Case studies · 2026Article
- Orthopedic manifestations and management of nail-patella syndrome: a narrative review.Frontiers in pediatrics · 2026Review
- Podocytopathies.Nature reviews. Disease primers · 2025Review
- A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.BMC nephrology · 2025Article
- Article
- Hereditary focal segmental glomerulosclerosis associated with an LMX1B mutation in the absence of extrarenal manifestations.Kidney research and clinical practice · 2025Article
- Split fingernails, underdeveloped thumbnails, and triangular lunulae.JAAD case reports · 2025Article
- Advances in focal segmental glomerulosclerosis research: genetic causes to non-coding RNAs.Molecular biology reports · 2025Review
- Article
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Identification of a novel missense variant in theFrontiers in genetics · 2025Article
- Human milk variation is shaped by maternal genetics and impacts the infant gut microbiome.Cell genomics · 2024Article
- A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.Human genome variation · 2024Article
- Article
- ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain dopaminergic neuronal resilience.The Journal of cell biology · 2023Article
- LMX1B-associated nephropathy that showed myelin figures on electron microscopy.CEN case reports · 2021Article
- A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.Internal medicine (Tokyo, Japan) · 2021Article
- Hereditary Nephritis and Thin Glomerular Basement Membrane Lesion.Glomerular diseases · 2021Review
- Collagenofibrotic Glomerulopathy.Internal medicine (Tokyo, Japan) · 2021Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Renal involvement is the major determinant of the prognosis for NPS. Patients often present with varying degrees of proteinuria or hematuria, and can occasionally progress to chronic renal failure. Recent genetic analysis has found that some mutations in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy). The classic term "nail-patella syndrome" would not represent disease conditions in these cases. This review provides an overview of NPS, and highlights the molecular genetics of NPS nephropathy and LMX1B-associated nephropathy. Our current understanding of LMX1B function in the pathogenesis of NPS and LMX1B-associated nephropathy is also presented, and its downstream regulatory networks discussed. This recent progress provides insights that help to define potential targeted therapeutic strategies for LMX1B-associated diseases.
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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.