ArticleDevelopment (Cambridge, England)2020
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.
Article in Development (Cambridge, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- Article
- Chronic Psychological Stress Induces Cardiomyocyte Hypertrophy Through Corticosterone-Glucocorticoid Receptor-LAMA5 Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Candidate Genetic Modifiers in Alport Syndrome: A Case Series.Life (Basel, Switzerland) · 2025Article
- Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.BMC nephrology · 2025Article
- Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene.Pediatric nephrology (Berlin, Germany) · 2024Article
- Endothelial and mural laminin-α5 contributes to neurovascular integrity maintenance.Fluids and barriers of the CNS · 2024Article
- Artificial intelligence and the analysis of cryo-EM data provide structural insight into the molecular mechanisms underlying LN-lamininopathies.Scientific reports · 2023Article
- Review
- Identification and Characterization of the Wilms Tumor Cancer Stem Cell.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery.Human genetics · 2023Article
- Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery.Research square · 2023Article
- Potential Anti-Alzheimer Properties of Mogrosides in Vitamin B12-DeficientMolecules (Basel, Switzerland) · 2023Article
- Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.Journal of neuromuscular diseases · 2023Review
- A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects.JCI insight · 2022Article
- Laminin N-terminus α31 expression during development is lethal and causes widespread tissue-specific defects in a transgenic mouse model.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.Science advances · 2022Article
- A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background.Kidney international · 2022Article
- Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome.Frontiers in pediatrics · 2022Article
- PathogenicKidney360 · 2021Article
- Crosstalk between basal extracellular matrix adhesion and building of apical architecture during morphogenesis.Biology open · 2021Review
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 2 countries.
Funding
Abstract
Laminin alpha 5 (LAMA5) is a member of a large family of proteins that trimerise and then polymerise to form a central component of all basement membranes. Consequently, the protein plays an instrumental role in shaping the normal development of the kidney, skin, neural tube, lung and limb, and many other organs and tissues. Pathogenic mutations in some laminins have been shown to cause a range of largely syndromic conditions affecting the competency of the basement membranes to which they contribute. We report the identification of a mutation in the polymerisation domain of LAMA5 in a patient with a complex syndromic disease characterised by defects in kidney, craniofacial and limb development, and by a range of other congenital defects. Using CRISPR-generated mouse models and biochemical assays, we demonstrate the pathogenicity of this variant, showing that the change results in a failure of the polymerisation of α/β/γ laminin trimers. Comparing these
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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.