Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

European journal of human genetics : EJHG - 1 Oct 2020

Harita Yutaka, Urae Seiya, Akashio Riki, Isojima Tsuyoshi, Miura Kenichiro, Yamada Takeshi, Yamamoto Katsusuke, Miyasaka Yasunori, Furuyama Masayuki, Takemura Tsukasa, Gotoh Yoshimitsu, Takizawa Hideki, Tamagaki Keiichi, Ozawa Atsushi, Ashida Akira, Hattori Motoshi, Oka Akira, Kitanaka Sachiko

Abstract excerpt

Nail-patella syndrome (NPS) is a multi-system disorder characterized by hypoplastic nails, hypoplastic patella, skeletal deformities, and iliac horns, which is caused by heterozygous variants of LMX1B. Nephropathy ranging from mild urinary abnormality to end-stage renal disease occurs in some individuals with NPS. Because of the low prevalence of NPS and the lack of longitudinal studies of its kidney involvement,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to LIM-Homeodomain Proteins

Share to Nephritis, Hereditary

Share to Promoter Regions, Genetic

Share to Proteinuria

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 32457516
DOI: 10.1038/s41431-020-0655-3
PMCID: PMC7608088

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.PMID 32457516Read ↗

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.Semantic proximity Read ↗

Clinico-genetic study of nail-patella syndrome.Semantic proximity Read ↗

Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.Semantic proximity Read ↗

Kidney disease in nail-patella syndrome.Semantic proximity Read ↗

Nail-patella syndrome. Overview on clinical and molecular findings.Semantic proximity Read ↗

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.Semantic proximity Read ↗

Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.Semantic proximity Read ↗

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.Semantic proximity Read ↗

Functional characterization of LMX1B mutations associated with nail-patella syndrome.Semantic proximity Read ↗

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: Triangular lunula of the thumb and lack of finger creases as cluesSemantic proximity Read ↗

A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.Semantic proximity Read ↗

A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.