Affinage

LAMB2

Laminin subunit beta-2 · UniProt P55268

Round 2 corrected
Length
1798 aa
Mass
196.0 kDa
Annotated
2026-04-28
70 papers in source corpus 14 papers cited in narrative 14 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

LAMB2 encodes laminin subunit beta-2, a basement membrane glycoprotein that assembles into heterotrimeric laminin isoforms (e.g., laminin-521) and is essential for structural integrity at the neuromuscular junction, glomerular filtration barrier, and cortical pial surface (PMID:2922051, PMID:21511833, PMID:22961762). At the neuromuscular junction, laminin beta-2 concentrates in the synaptic cleft where it organizes pre- and postsynaptic architecture; its complete absence causes a congenital myasthenic syndrome with reduced quantal content, simplified postsynaptic folds, and Schwann cell invasion of the synaptic space (PMID:19251977). In the kidney, disease-causing missense mutations—clustered in the N-terminal LN domain—impair laminin-521 secretion from podocytes, resulting in glomerular basement membrane defects and nephrotic syndrome (Pierson syndrome), with severity inversely proportional to residual secretion (PMID:21511833, PMID:20556798). LAMB2 translation in podocytes is post-transcriptionally regulated by the lncRNA Airn via Igf2bp2, and under hypoxia LAMB2 is sorted into extracellular vesicles through ROCK1-phosphorylated Caveolin-1/Rab11 to activate AKT signaling in recipient cells (PMID:32437062, PMID:39138263).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1988 High

    Chromosomal localization of LAMB2 provided the first genomic context for the gene, initially assigned to 1q25–q31 and later corrected to 3p21, establishing it as a distinct locus from LAMB1.

    Evidence cDNA cloning with somatic cell hybrid and FISH mapping across two independent studies

    PMID:3234037 PMID:7795887

    Open questions at the time
    • Promoter and regulatory elements were not characterized
    • Evolutionary relationship to LAMB1 was only later addressed by physical mapping
  2. 1989 High

    Identification of S-laminin (LAMB2) as a synaptic cleft-specific laminin variant answered the question of how the neuromuscular junction basal lamina is molecularly distinct from extrasynaptic basement membrane.

    Evidence Protein purification, molecular cloning, and immunolocalization at neuromuscular junctions in frog and rat

    PMID:2922051

    Open questions at the time
    • Mechanism of selective synaptic targeting was unknown
    • Functional consequences of loss at the NMJ were not yet tested
  3. 1995 High

    Tissue-specific expression profiling revealed that LAMB2 and LAMB1 have non-overlapping expression in many tissues (e.g., LAMB2 in glomeruli and brain, LAMB1 in striated muscle), establishing that the two beta chains fulfill distinct biological roles.

    Evidence Northern blot and in situ hybridization across human fetal tissues

    PMID:7795887

    Open questions at the time
    • Functional significance of tissue-specific expression not yet tested by loss-of-function
    • Whether compensatory upregulation of LAMB1 occurs in LAMB2-deficient tissues was unknown
  4. 2009 High

    Analysis of a human patient with truncating LAMB2 mutations resolved the functional requirement for laminin beta-2 at the NMJ, showing that complete loss causes a synaptic congenital myasthenic syndrome with ultrastructural disruption and reduced quantal content.

    Evidence Human muscle biopsy with electron microscopy, electrophysiology (endplate potential and miniature endplate potential recording), Western blot, and mutation analysis

    PMID:19251977

    Open questions at the time
    • Whether NMJ defects are secondary to developmental mis-patterning or ongoing structural maintenance failure was unclear
    • Mechanism by which laminin beta-2 organizes the postsynaptic apparatus was not defined
  5. 2010 Medium

    Systematic genotype-phenotype correlation across 39 families established that missense mutations cluster in the LN domain—the intermolecular interaction domain—and cause milder phenotypes, while truncating mutations throughout the gene cause severe Pierson syndrome, mapping functional criticality to the LN domain.

    Evidence Mutational analysis of 39 families with genotype-phenotype correlation

    PMID:20556798

    Open questions at the time
    • No structural basis for why specific LN domain residues are critical
    • Contribution of other domains (e.g., coiled-coil) to function not systematically tested
  6. 2011 High

    The molecular mechanism of the R246Q missense mutation was resolved: it impairs secretion of laminin-521 from podocytes, and dose-dependent transgenic expression demonstrated that increasing mutant protein levels rescues glomerular permselectivity, establishing secretion efficiency as the rate-limiting step.

    Evidence In vitro laminin secretion assay, three transgenic mouse lines with graded expression, proteinuria measurement, immunolocalization, and electron microscopy

    PMID:21511833

    Open questions at the time
    • Whether the secretion defect reflects misfolding or specific ER retention was not determined
    • Therapeutic strategies to boost secretion were not tested
  7. 2012 High

    Double knockout of Lamb2 and Lamc3 demonstrated a dose-dependent role for beta-2/gamma-3-containing laminins in maintaining the pial basement membrane, with loss causing cobblestone lissencephaly, disrupted Cajal-Retzius cell distribution, and radial glial detachment.

    Evidence Lamb2/Lamc3 single and double knockout mice with cortical histology, immunofluorescence for dystroglycan, Cajal-Retzius, and radial glial markers

    PMID:22961762

    Open questions at the time
    • Individual contributions of LAMB2 versus LAMC3 to pial BM integrity were partially confounded by the double-knockout design
    • Downstream signaling through dystroglycan was correlative rather than causally tested
  8. 2020 Medium

    Identification of the lncRNA Airn/Igf2bp2 axis as a post-transcriptional regulator of LAMB2 translation in podocytes revealed how glomerular laminin beta-2 levels are maintained, with downregulation under high-glucose conditions linking LAMB2 to diabetic nephropathy pathogenesis.

    Evidence RNA immunoprecipitation, RNA pull-down, lncRNA overexpression/knockdown, Western blot in podocyte cell lines

    PMID:32437062

    Open questions at the time
    • In vivo validation of the Airn-Igf2bp2-LAMB2 axis in animal models was not performed
    • Whether this regulatory axis operates outside podocytes was not tested
  9. 2022 Medium

    Discovery that LAMB2 is an abundant cargo of OPC-derived exosomes downstream of connexin 47 signaling, and that exogenous LAMB2 promotes OPC proliferation via cyclin D1 activation, extended LAMB2 function to paracrine signaling in glial biology.

    Evidence Mass spectrometry of exosome content, nanoparticle tracking, exogenous LAMB2 treatment with cell cycle analysis in OPCs

    PMID:35596050

    Open questions at the time
    • The receptor or integrin through which extracellular LAMB2 activates cyclin D1 in OPCs was not identified
    • In vivo relevance for myelination or remyelination was not demonstrated
  10. 2024 Medium

    The ROCK1–phospho-Caveolin1(Y14)–Rab11 axis was identified as the mechanism by which hypoxic cancer cells sort LAMB2 into extracellular vesicles that activate AKT-dependent peritoneal metastasis, establishing a pathological gain-of-function role for LAMB2 in cancer.

    Evidence Proteomics, co-IP, phosphorylation assays, EV isolation, and in vivo peritoneal metastasis models in gastric cancer

    PMID:39138263

    Open questions at the time
    • The receptor on recipient cells through which EV-associated LAMB2 activates AKT was not identified
    • Generalizability beyond gastric cancer was not addressed
    • Single-lab finding awaiting independent replication

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis for LN domain missense mutation pathogenicity, the receptor(s) mediating extracellular LAMB2 signaling on OPCs and cancer cells, whether ER chaperone-assisted strategies can rescue secretion-deficient mutants therapeutically, and the relative individual contributions of LAMB2 versus LAMC3 to pial basement membrane integrity.
  • No high-resolution structure of laminin beta-2 LN domain
  • No identified receptor for paracrine/EV-mediated LAMB2 signaling
  • No therapeutic rescue of secretion-deficient mutants demonstrated

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0098631 cell adhesion mediator activity 3
Localization
GO:0005576 extracellular region 4 GO:0031012 extracellular matrix 4 GO:0031410 cytoplasmic vesicle 2
Pathway
R-HSA-1474244 Extracellular matrix organization 4 R-HSA-1643685 Disease 4 R-HSA-5653656 Vesicle-mediated transport 2 R-HSA-1266738 Developmental Biology 1
Partners
CAV1IGF2BP2LAMA5LAMC1LAMC3RAB11AROCK1
Complex memberships
Laminin-521 heterotrimer

Evidence

Reading pass · 14 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1989 S-laminin (LAMB2) was identified as a laminin-like glycoprotein selectively concentrated in the synaptic cleft of the neuromuscular junction and recognized by motoneurons, establishing it as a synaptic basal lamina component that guides motor axon reinnervation. Protein purification, molecular cloning, immunolocalization at neuromuscular junctions Nature High 2922051
1988 The human laminin B2 (LAMB2) gene was chromosomally assigned to region 1q25–q31 using somatic cell hybrid hybridization and in situ hybridization, and a cDNA clone encoding the human laminin B2 chain was isolated and characterized. cDNA cloning, somatic cell hybrid panel hybridization, in situ hybridization Cytogenetics and cell genetics High 3234037
1995 The human LAMB2 gene was re-mapped to chromosome 3p21 (correcting the earlier 1q25 assignment from a different lab), and tissue-specific expression was established: LAMB2 (but not LAMB1) is expressed in fetal brain, renal glomeruli, bronchial epithelium, liver hepatocytes, and skin (both epidermal and dermal), while LAMB1 but not LAMB2 is expressed in striated muscle, demonstrating distinct biological roles for the two beta chains. Somatic cell hybrids, FISH, Northern blotting, in situ hybridization in multiple fetal tissues Matrix biology High 7795887
1994 A new laminin nomenclature was adopted in which the former B2 chain (S-laminin) is designated the beta2 chain, and LAMB2 encodes the laminin beta2 subunit that assembles into heterotrimeric laminin isoforms (e.g., laminin-521). Nomenclature consensus/biochemical classification Matrix biology Medium 7921537
1999 A detailed physical map of the LAMB2 locus on chromosome 3p21.3→p21.2 was generated, revealing that LAMB2 lies 16 kb from the glutaminyl tRNA synthetase gene (QARS) and ~20 kb downstream of a transcribed LAMB2-like pseudogene (LAMB2L), and that the locus is paralogous with the LAMB1 region on chromosome 7q22–q31. Genomic physical mapping, CpG island identification, microsatellite marker identification Cytogenetics and cell genetics Medium 10393422
2009 Truncating heteroallelic LAMB2 mutations (1478delG and 4804delC) in a human patient caused a synaptic form of congenital myasthenic syndrome, with profound distortion of neuromuscular junction architecture: reduced axon terminal size, Schwann cell encasement of nerve endings, widened synaptic cleft, Schwann cell invasion of the synaptic space, simplified postsynaptic folds, and reduced endplate potential quantal content. Western blot and immunohistochemistry confirmed complete absence of laminin beta2 protein in muscle and kidney. Muscle biopsy histology and electron microscopy, electrophysiology (endplate potential recording, miniature endplate potential analysis), Western blot, immunohistochemistry, mutational analysis Journal of medical genetics High 19251977
2010 Review and analysis of all known LAMB2 mutations revealed that truncating mutations are distributed across the entire gene and cause full loss of laminin beta2 function (Pierson syndrome), while missense mutations cluster in the N-terminal LN domain—which mediates intermolecular interactions—and are associated with milder/hypomorphic phenotypes, establishing genotype-phenotype correlations for the protein's functional domains. Mutational analysis across 39 families, genotype-phenotype correlation analysis Human mutation Medium 20556798
2011 The R246Q missense mutation in LAMB2 causes nephrotic syndrome by impairing secretion of laminin-521 from podocytes into the glomerular basement membrane (GBM). In vitro studies demonstrated impaired laminin secretion as the molecular defect; transgenic mice expressing R246Q-mutant rat laminin beta2 showed that increased expression of the mutant protein overcomes the secretion defect and improves glomerular permselectivity, with proteinuria severity inversely correlating with transgene expression level. Transgenic mouse generation (three lines), in vitro laminin secretion assay, proteinuria measurement, immunolocalization, electron microscopy, slit diaphragm protein localization Journal of the American Society of Nephrology High 21511833
2012 Mice homozygous null for laminin beta2 (Lamb2) and gamma3 (Lamc3) exhibit severe cortical laminar disorganization with hallmarks of cobblestone lissencephaly: fractured pial basement membrane, altered dystroglycan distribution, disrupted Cajal-Retzius cell distribution, altered radial glial morphology, ectopic germinal zones, and midline fusion. Heterozygous mice also show laminar disruption, demonstrating a dose-dependent role for beta2/gamma3-containing laminins in cortical pial basement membrane integrity. Lamb2/Lamc3 double knockout mice, cortical histology, immunofluorescence (dystroglycan, Cajal-Retzius cell markers, radial glial markers), comparison of homozygous and heterozygous phenotypes Developmental neurobiology High 22961762
2014 A hypomorphic point mutation in mouse Lamb2 identified by ENU mutagenesis and next-generation sequencing causes a viable nephrotic phenotype, validating the glomerular filtration barrier role of LAMB2 in an animal model that recapitulates part of the human Pierson syndrome spectrum. ENU mutagenesis screen, whole-genome sequencing, renal phenotyping The Journal of pathology Medium 24293254
2020 The lncRNA Airn binds to the RNA-binding protein Igf2bp2 and facilitates translation of Lamb2 (and Igf2) in podocytes, maintaining normal laminin beta2 levels and glomerular barrier function; Airn downregulation in high-glucose conditions reduces LAMB2 protein and impairs podocyte viability. RNA immunoprecipitation, RNA pull-down assay, lncRNA overexpression/knockdown, Western blot, cell viability assay Cell biology international Medium 32437062
2022 LAMB2 is abundant in exosomes secreted by oligodendrocyte precursor cells (OPCs) in response to astrocyte connexin 47 (Cx47) signaling; exogenous LAMB2 induces DNA replication in the S phase of OPCs by activating cyclin D1, promoting OPC proliferation. Cx47 siRNA knockdown, transcriptome sequencing, transmission electron microscopy, Western blot, nanoparticle tracking analysis, mass spectrometry of exosome content, exogenous LAMB2 administration, cell cycle analysis Molecular biology reports Medium 35596050
2024 Under hypoxic conditions, ROCK1-mediated phosphorylation of Caveolin1 at Y14 promotes sorting of LAMB2 into extracellular vesicles derived from gastric cancer cells via activation of Rab11; extracellular vesicle-associated LAMB2 then promotes peritoneal metastasis in normoxic gastric cancer cells by activating the AKT pathway. Proteomic analysis, co-IP, phosphorylation assays, extracellular vesicle isolation, in vivo peritoneal metastasis models, pathway inhibition Oncogene Medium 39138263
2021 A novel LAMB2 intronic variant (c.2885-9C>A) was shown by minigene splicing assay to cause erroneous integration of a 7 bp sequence into intron 20, demonstrating a splicing mechanism by which non-canonical intronic variants disrupt laminin beta2 expression; immunohistochemistry confirmed absence of glomerular laminin beta2 protein in the affected patient. Minigene splicing assay, Sanger sequencing, immunohistochemistry Molecular genetics & genomic medicine Medium 33982833

Source papers

Stage 0 corpus · 70 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2005 A human protein-protein interaction network: a resource for annotating the proteome. Cell 1704 16169070
2019 Blood-Brain Barrier: From Physiology to Disease and Back. Physiological reviews 1645 30280653
2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America 1479 12477932
2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. Nature biotechnology 1176 12754519
2015 The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell 1118 26186194
2017 Architecture of the human interactome defines protein communities and disease networks. Nature 1085 28514442
2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell 1015 26496610
2018 VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Cell discovery 829 29507755
2011 Basement membranes: cell scaffoldings and signaling platforms. Cold Spring Harbor perspectives in biology 720 21421915
1994 A new nomenclature for the laminins. Matrix biology : journal of the International Society for Matrix Biology 716 7921537
2021 Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Cell 705 33961781
2011 Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Briefings in bioinformatics 656 21873635
2008 Large-scale proteomics and phosphoproteomics of urinary exosomes. Journal of the American Society of Nephrology : JASN 607 19056867
1989 A laminin-like adhesive protein concentrated in the synaptic cleft of the neuromuscular junction. Nature 550 2922051
2022 OpenCell: Endogenous tagging for the cartography of human cellular organization. Science (New York, N.Y.) 432 35271311
1999 Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. The Journal of cell biology 432 9885251
1987 Laminin-nidogen complex. Extraction with chelating agents and structural characterization. European journal of biochemistry 423 3109910
2005 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome research 409 16344560
2015 Panorama of ancient metazoan macromolecular complexes. Nature 407 26344197
1996 Normalization and subtraction: two approaches to facilitate gene discovery. Genome research 401 8889548
2005 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. Journal of proteome research 350 16335952
2021 A proximity-dependent biotinylation map of a human cell. Nature 339 34079125
2001 Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. Journal of cell science 333 11683410
2007 Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 313 17371932
2012 Functional diversity of laminins. Annual review of cell and developmental biology 298 23057746
2020 The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis. Nature 292 32322062
2012 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology 283 23266556
2000 Integrins as receptors for laminins. Microscopy research and technique 278 11054877
2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Nature biotechnology 266 15146197
2011 A directed protein interaction network for investigating intracellular signal transduction. Science signaling 258 21900206
2004 Functional proteomics mapping of a human signaling pathway. Genome research 247 15231748
2010 Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Human mutation 155 20556798
2006 Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney international 136 16912710
2009 Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. Journal of medical genetics 97 19251977
2012 β2 and γ3 laminins are critical cortical basement membrane components: ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia. Developmental neurobiology 68 22961762
2005 Comparing PAP smear cytology, aided visual inspection, screening colposcopy, cervicography and HPV testing as optional screening tools in Latin America. Study design and baseline data of the LAMS study. Anticancer research 51 16101165
2011 A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion. Journal of the American Society of Nephrology : JASN 46 21511833
2006 A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 45 16921188
1995 The human laminin beta 2 chain (S-laminin): structure, expression in fetal tissues and chromosomal assignment of the LAMB2 gene. Matrix biology : journal of the International Society for Matrix Biology 42 7795887
2011 A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. Ophthalmology 29 21236492
2009 Immunosuppressive cytokine Interleukin-10 (IL-10) is up-regulated in high-grade CIN but not associated with high-risk human papillomavirus (HPV) at baseline, outcomes of HR-HPV infections or incident CIN in the LAMS cohort. Virchows Archiv : an international journal of pathology 25 19908064
1988 Isolation of a human laminin B2 (LAMB2) cDNA clone and assignment of the gene to chromosome region 1q25----q31. Cytogenetics and cell genetics 25 3234037
2020 Long noncoding RNA Airn protects podocytes from diabetic nephropathy lesions via binding to Igf2bp2 and facilitating translation of Igf2 and Lamb2. Cell biology international 17 32437062
2009 The first Chinese Pierson syndrome with novel mutations in LAMB2. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 16 19861315
2022 Astrocytes promote the proliferation of oligodendrocyte precursor cells through connexin 47-mediated LAMB2 secretion in exosomes. Molecular biology reports 13 35596050
2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience. Bosnian journal of basic medical sciences 12 24856380
2016 A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. European journal of medical research 11 27130041
2018 Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. Frontiers in genetics 9 30013592
2017 A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure. European journal of pediatrics 9 28188379
2024 Hypoxia-induced LAMB2-enriched extracellular vesicles promote peritoneal metastasis in gastric cancer via the ROCK1-CAV1-Rab11 axis. Oncogene 8 39138263
2020 Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism. The Journal of clinical endocrinology and metabolism 8 31769495
2016 Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. BMC pediatrics 8 27004562
1991 The gene for retinal rod 33-kDa protein is on mouse chromosome 1, near Lamb2. Cytogenetics and cell genetics 8 1675982
2017 Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. BMC nephrology 7 28683731
2010 Up-regulation of 14-3-3sigma (Stratifin) is associated with high-grade CIN and high-risk human papillomavirus (HPV) at baseline but does not predict outcomes of HR-HPV infections or incident CIN in the LAMS study. American journal of clinical pathology 6 20093232
2017 LAMB2 mutation with different phenotypes in China
. Clinical nephrology 5 27925579
2019 A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome. Frontiers in medicine 4 30778388
2014 Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome. The Journal of pathology 4 24293254
1999 Characterization of the human laminin beta2 chain locus (LAMB2): linkage to a gene containing a nonprocessed, transcribed LAMB2-like pseudogene (LAMB2L) and to the gene encoding glutaminyl tRNA synthetase (QARS). Cytogenetics and cell genetics 4 10393422
2024 Identification of conserved and tissue-restricted transcriptional profiles for lipid associated macrophages (LAMs). bioRxiv : the preprint server for biology 3 39386558
2023 Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant. Ophthalmology. Retina 3 37678612
2021 Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome. Molecular biology reports 3 34546508
2006 [LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. Przeglad lekarski 3 16898484
2023 LAMB2 gene: broad clinical spectrum in Pierson syndrome. CEN case reports 2 38038886
2025 How does LAMB2 contribute to kidney disease? Insights from a pediatric case. BMC nephrology 1 40826341
2024 Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients. Neuromuscular disorders : NMD 1 38723581
2024 The clinical characteristics and genotype analysis of LAMB2 gene mutation. Frontiers in medicine 1 39416865
2021 An extremely mild clinical course in a case with LAMB2-associated nephritis diagnosed with next-generation sequencing. CEN case reports 1 33476040
2025 Preservation of EUS-guided gastrojejunostomy LAMS during pancreaticoduodenectomy: a paradigm shift in the surgical management of borderline resectable pancreatic cancer. Updates in surgery 0 40875165
2021 LAMB2 novel variant c.2885-9 C>A affects RNA splicing in a minigene assay. Molecular genetics & genomic medicine 0 33982833