Affinage

LAMA5

Laminin subunit alpha-5 · UniProt O15230

Length
3695 aa
Mass
399.7 kDa
Annotated
2026-04-28
33 papers in source corpus 19 papers cited in narrative 23 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

LAMA5 encodes the laminin α5 chain, a major basement membrane glycoprotein that assembles into heterotrimeric laminins (e.g., laminin-511/521 with β1/β2 and γ1 chains) and functions as a multivalent signaling scaffold governing cell adhesion, polarity, migration, and tissue morphogenesis across diverse organ systems. Laminin α5 signals through multiple integrin receptors—β1 integrin to activate a PYK2–FYN focal adhesion complex and downstream WNT signaling in cartilage (PMID:33242826), integrin α4/STAT3 to drive acinar-to-ductal metaplasia in the pancreas (PMID:38154529), and integrin αvβ3 to mediate VEGF-independent angiogenesis upon MMP1-dependent proteolytic cleavage (PMID:27324842)—while also engaging non-integrin partners such as SV2A at neuromuscular junctions to regulate presynaptic quantal content (PMID:28544784) and BCAM on endothelial cells to mediate tumor cell adhesion during metastasis (PMID:27143691). Mutations in LAMA5 cause nephrotic syndrome/FSGS-like glomerulopathy through impaired heterotrimer assembly or secretion (PMID:34774562, PMID:35419533, PMID:36173685), bent bone dysplasia through disrupted integrin–focal adhesion signaling (PMID:33242826), and congenital myasthenic syndrome through defective SV2A binding at neuromuscular junctions (PMID:28544784). LAMA5 transcription is activated by the glucocorticoid receptor and MAZ, induced by TNFα/NF-κB signaling, and suppressed by canonical Wnt/β-catenin, and its expression is subject to a tissue-level laminin expression monitor that coordinately adjusts basement membrane output (PMID:21915268, PMID:31064120, PMID:33629734, PMID:40072648, PMID:40642838).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2011 Medium

    The discovery that transgenic human LAMA5 expression suppresses endogenous mouse Lama5 revealed a previously unknown tissue-level feedback mechanism—a laminin expression monitor—that controls total basement membrane laminin output, establishing that laminin α5 production is not simply constitutive but actively regulated.

    Evidence BAC transgenic mice expressing human LAMA5 in kidney, with immunoelectron microscopy and mRNA quantification

    PMID:21915268

    Open questions at the time
    • Molecular identity of the laminin expression monitor sensor is unknown
    • Whether this feedback operates in non-kidney tissues is untested
    • Single lab, not independently confirmed
  2. 2012 High

    Knockout and knockdown studies demonstrated that laminin α5 simultaneously promotes PI3K/AKT signaling and inhibits Wnt signaling in intestinal cells, establishing it as a bifunctional signaling scaffold rather than a purely structural ECM component.

    Evidence Lama5 knockout mouse RNA profiling and cell culture knockdown with PI3K and Wnt pathway readouts

    PMID:22666383

    Open questions at the time
    • Which integrin receptor mediates PI3K activation in intestinal cells is not defined
    • Whether PI3K promotion and Wnt inhibition are mechanistically linked or independent remains unclear
  3. 2016 High

    Two studies identified specific extracellular binding partners through which LAMA5 mediates pathological cell interactions: BCAM on tumor cells engages endothelial LAMA5 to drive colorectal cancer metastatic adhesion, while MMP1 cleavage of LAMA5 generates pro-angiogenic fragments signaling through integrin αvβ3, revealing that proteolytic processing of laminin α5 creates functionally distinct signaling species.

    Evidence Adhesion assays with shRNA suppression of BCAM/LAMA5 and BCAM-mimic peptides in vivo (metastasis); MMP1 knockdown with secretome proteomics and integrin-blocking antibodies (angiogenesis)

    PMID:27143691 PMID:27324842

    Open questions at the time
    • Specific MMP1 cleavage sites on LAMA5 are not mapped at amino acid resolution
    • Whether BCAM–LAMA5 interaction occurs in non-colorectal cancers is unknown
  4. 2017 High

    Patient mutations defined two distinct disease mechanisms: p.Arg2659Trp disrupts the LAMA5–SV2A binding interface causing neuromuscular junction failure and congenital myasthenic syndrome, while p.V3140M perturbs proteolytic processing and activates hedgehog signaling, revealing domain-specific functions of the laminin α5 chain.

    Evidence Binding assays (LAMA5–SV2A), electrophysiology, primary neuronal culture (NMJ); patient cell expression studies with WES/RNAseq and knock-in mouse (skin/hedgehog)

    PMID:28544784 PMID:28735299 PMID:29377152

    Open questions at the time
    • Structural basis for SV2A recognition by the LAMA5 LG domain is not resolved
    • How p.V3140M alters cleavage-derived peptide levels mechanistically is unclear
  5. 2018 Medium

    Endothelial cell knockdown showed that LAMA5 is required for PI3K/AKT/mTOR-dependent endothelial proliferation and survival, extending the PI3K-activating function beyond epithelial cells and linking it to vascular biology.

    Evidence siRNA knockdown in HUVECs with proliferation, apoptosis, migration, and western blot for p-AKT/p-mTOR

    PMID:30200802

    Open questions at the time
    • Which integrin receptor mediates PI3K activation in endothelial cells is not identified
    • Overexpression rescue not performed
    • Single lab
  6. 2019 High

    TNFα/NF-κB signaling was identified as an upstream inducer of LAMA5 in colorectal metastases, and LAMA5 was shown to suppress Notch signaling in tumor endothelia to promote branching angiogenesis, establishing a myeloid-cell→TNFα→LAMA5→Notch suppression axis in the metastatic microenvironment.

    Evidence shRNA knockdown in cancer cells, orthotopic hepatic metastasis mouse models, conditioned medium from CD11b+ myeloid cells, Notch pathway gene expression

    PMID:31064120

    Open questions at the time
    • Direct mechanism by which LAMA5 suppresses Notch (receptor engagement vs. ligand sequestration) is not defined
    • Whether this axis operates in primary tumors is untested
  7. 2020 High

    Discovery of a β1 integrin–PYK2–FYN focal adhesion signaling complex downstream of LAMA5 in skeletal cells explained the molecular mechanism of bent bone dysplasia: LAMA5 mutations disrupt this non-canonical focal adhesion pathway, impairing WNT signaling, actin organization, and cell migration.

    Evidence Exome sequencing, patient cell studies with western blot, WNT reporter assay, immunohistochemistry, migration assays

    PMID:33242826

    Open questions at the time
    • Whether PYK2–FYN complex formation requires direct LAMA5–β1 integrin binding or additional co-receptors is unresolved
    • Structural basis for how specific LAMA5 mutations impair β1 integrin engagement is unknown
  8. 2021 High

    In vitro heterotrimer assembly and knock-in mouse studies established that LAMA5 mutations causing nephrotic syndrome act through impaired laminin-521 heterotrimer formation or reduced protein levels, distinguishing a structural/assembly defect mechanism from the signaling defects seen in bone and NMJ disease.

    Evidence In vitro heterotrimer formation assays, knock-in mouse models, glomerular proteomics, histology/ultrastructure; separate study with truncating variants and trimerization assays

    PMID:34774562 PMID:35419533

    Open questions at the time
    • How partially truncated but trimerization-competent laminins cause disease is not mechanistically explained
    • Whether compensatory laminin isoform switching occurs in human glomeruli is unknown
  9. 2021 Medium

    Wnt/β-catenin signaling was shown to transcriptionally suppress Lama5 during salivary gland branching morphogenesis, with FGF acting upstream as a Wnt repressor, placing LAMA5 as a downstream effector that integrates growth factor and Wnt inputs to control epithelial branching.

    Evidence Embryonic mouse submandibular gland organ culture with Wnt3a activation, Wnt inhibitor treatment, and gene expression analysis

    PMID:33629734

    Open questions at the time
    • Whether Wnt directly targets the Lama5 promoter or acts indirectly is not demonstrated
    • Relevance to other branching organs not tested
    • Single lab
  10. 2022 Medium

    A heterozygous LAMA5 variant (p.Val3687Met) was shown to impair secretion of the LG4-5 domain in a cell-type-dependent manner, establishing that domain-specific secretion defects—not just assembly failure—can cause FSGS-like glomerulopathy.

    Evidence In vitro LG4-5 secretion assay, heterozygous and homozygous knock-in mice, histopathology, immunofluorescence

    PMID:36173685

    Open questions at the time
    • Mechanism of cell-type-dependent secretion defect is not resolved
    • Whether haploinsufficiency alone is sufficient or a dominant-negative effect contributes is unclear
    • Single lab
  11. 2023 High

    Multi-omics integration identified a LAMA5/integrin α4/STAT3 axis through which cancer-associated fibroblast-secreted LAMA5 drives pancreatic acinar-to-ductal metaplasia, while separate work showed LAMA5 activates Notch and EMT pathways in ovarian cancer, broadening the repertoire of integrin receptors and downstream pathways engaged by stromal laminin α5.

    Evidence CAF co-culture, LC-MS/MS proteomics, RNA-seq, organoid/explant models, KD validation (pancreas); shRNA knockdown with in vivo xenograft and Notch/EMT marker analysis (ovary)

    PMID:37527216 PMID:38154529

    Open questions at the time
    • Whether integrin α4 engagement and STAT3 activation occur in non-pancreatic contexts is unknown
    • Direct binding of LAMA5 to integrin α4 has not been shown by biophysical methods
  12. 2023 Medium

    Ex vivo palatal organ culture demonstrated that LAMA5 is required for palatogenesis through proliferation and SHH/GLI1 signaling, extending its developmental roles beyond kidney and salivary gland to craniofacial morphogenesis.

    Evidence shRNA adenovirus transfection of E13.5 mouse palatal process, organ culture fusion assay, western blot for SHH pathway

    PMID:37390938

    Open questions at the time
    • Whether LAMA5 directly regulates SHH ligand availability or signals intracellularly through integrins to GLI1 is not distinguished
    • Single lab, ex vivo only
  13. 2025 Medium

    Transcriptional regulation of LAMA5 was refined: MAZ directly binds the LAMA5 promoter to activate transcription feeding into STAT3 signaling in gastric cancer, and the glucocorticoid receptor was identified as a direct transcriptional activator of LAMA5 mediating stress-induced cardiomyocyte hypertrophy, revealing context-specific transcriptional inputs.

    Evidence ChIP and luciferase reporter for MAZ–LAMA5 promoter binding with STAT3 rescue (gastric cancer); GR target gene identification in vivo and in vitro (cardiomyocyte)

    PMID:40072648 PMID:40642838

    Open questions at the time
    • Whether GR binds the LAMA5 promoter directly via GREs or indirectly is not shown by ChIP
    • Interaction between MAZ and GR regulation of LAMA5 in overlapping tissues is unexplored
    • Both single-lab studies

Open questions

Synthesis pass · forward-looking unresolved questions
  • Major open questions remain: the structural basis for how laminin α5 engages different integrin receptors (β1, α4, αvβ3, α6) in different tissues, how proteolytic processing generates functionally distinct fragments with specific signaling outputs, the molecular identity of the laminin expression monitor, and genotype–phenotype rules explaining why different LAMA5 mutations cause kidney, bone, NMJ, or skin disease.
  • No crystal or cryo-EM structure of laminin-511/521 heterotrimer with integrin
  • Systematic domain–receptor mapping across tissue contexts is lacking
  • Laminin expression monitor mechanism entirely undefined at the molecular level

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098631 cell adhesion mediator activity 3 GO:0005198 structural molecule activity 2 GO:0048018 receptor ligand activity 2
Localization
GO:0031012 extracellular matrix 5 GO:0005576 extracellular region 4
Pathway
R-HSA-162582 Signal Transduction 5 R-HSA-1474244 Extracellular matrix organization 4 R-HSA-1500931 Cell-Cell communication 3 R-HSA-1266738 Developmental Biology 2
Partners
BCAMITGA4ITGAVITGB1LAMB1LAMB2LAMC1SV2A
Complex memberships
Laminin-511 (α5β1γ1)Laminin-521 (α5β2γ1)

Evidence

Reading pass · 23 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2016 BCAM (basal cell adhesion molecule) on tumor cells binds LAMA5 on endothelial cells, mediating adhesion of KRAS-mutant colorectal cancer cells specifically to endothelial cells (but not pericytes or hepatocytes); genetic suppression or biochemical inhibition of either BCAM or LAMA5 impaired this adhesion, and BCAM-mimic peptides inhibited metastasis in preclinical models. Adhesion assays, shRNA/genetic suppression, BCAM-mimic peptide functional inhibition, phage display identification, in vivo mouse metastasis models Clinical Cancer Research High 27143691
2016 MMP1 secreted by oncogenically transformed (H-Ras) epithelial cells cleaves LAMA5, generating internal and C-terminal proteolytic fragments that promote endothelial cell angiogenesis (vessel length and branching) in a VEGF-independent manner; this pro-angiogenic effect is blocked by anti-integrin αvβ3 antibodies on endothelial cells. MMP1 knockdown (shRNA), secretome proteomics, in vitro angiogenesis assays, integrin antibody inhibition, in vivo xenograft tumors Scientific Reports High 27324842
2012 Laminin α5 (LAMA5) promotes PI3K signaling and inhibits Wnt signaling in intestinal epithelial and mesenchymal cells; loss of LAMA5 in knockout mice causes conflicting signals that alter cell adhesion, migration, and differentiation, mechanistically linked by RNA profiling and cell culture knockdown experiments. Lama5 knockout mouse RNA profiling, cell culture knockdown, signaling pathway analysis (PI3K/Akt and Wnt pathway readouts) PLoS One High 22666383
2019 Tumor-derived LAMA5 (laminin 511) in colorectal liver metastases is induced by TNFα/NFκB signaling from CD11b+ myeloid-cell-conditioned medium; LAMA5 downregulation by shRNA impaired hepatic metastatic growth, reduced intratumoral vessel branching, and increased Notch pathway gene expression in metastasis-derived endothelia, indicating LAMA5 promotes branching angiogenesis and suppresses Notch signaling. shRNA knockdown in cancer cells, qPCR with human-specific primers, orthotopic hepatic metastasis mouse models, Notch pathway gene expression analysis, conditioned medium experiments Cancers High 31064120
2017 The heterozygous LAMA5 mutation p.V3140M perturbs protein cleavage-derived peptide levels and disrupts epithelial-mesenchymal signaling, causing upregulation of Sonic hedgehog (SHH) and GLI1 and strong inhibition of ECM proteins COL1A1, MMP1, and MMP3 in patient-derived cells; a knock-in mouse model recapitulated similar tissue changes. Patient-derived cell expression studies, WES/RNAseq, skin biopsy morphology, knock-in mouse model generation and analysis Journal of Medical Genetics Medium 28735299
2017 The LAMA5 variant p.Arg2659Trp causes decreased binding of laminin α5 to SV2A (synaptic vesicle glycoprotein 2A), impairs laminin-521 cell-adhesion, and reduces cell projection support in primary neuronal cultures, leading to profound reduction of neuromuscular junction endplate potential quantal content and presynaptic terminal degeneration. Expression studies in neuronal cells, binding assays (laminin α5 to SV2A), cell-adhesion assays, primary neuronal culture, electrophysiology (repetitive nerve stimulation, endplate recordings), electron microscopy American Journal of Medical Genetics Part A High 28544784 29377152
2020 Loss of LAMA5 in skeletal cells disrupts a β1 integrin–PYK2–FYN focal adhesion complex, impairing non-canonical focal adhesion signaling in cartilage, negatively impacting actin cytoskeleton organization, vinculin localization, and WNT signaling, and causing a distinct bent bone dysplasia. Exome sequencing, Sanger confirmation, qPCR, western blot, immunohistochemistry, luciferase WNT reporter assay, migration/wound healing assays, patient cell studies EBioMedicine High 33242826
2021 A missense mutation (E884G) in the L4a domain of LAMA5 reduces LAMA5 protein levels in vivo and significantly reduces laminin 521 heterotrimer assembly in vitro; homozygous mice develop nephrotic syndrome with glomerular ultrastructural changes, and proteomic analysis revealed altered glomerular ECM composition. Mouse knock-in model, in vitro heterotrimer assembly assay, proteomics of glomerular ECM, histology, ultrastructural analysis Kidney International High 34774562
2021 Truncating LAMA5 variants produce shorter laminin α5 proteins that still form trimers with laminin β1 and γ1 chains, as demonstrated by in vitro heterotrimer formation assays, establishing that partial truncation does not abolish trimerization but causes infantile nephrotic syndrome. In vitro heterotrimer formation assay, targeted next-generation sequencing, clinical phenotyping Kidney360 Medium 35419533
2021 Canonical Wnt/β-catenin signaling regulates submandibular gland branching morphogenesis through modulation of Lama5 levels; FGF signaling acts upstream as a negative regulator of canonical Wnt, and Wnt inhibition promotes while Wnt overactivation suppresses epithelial branching, with Lama5 as a downstream effector. Embryonic mouse SMG organ culture, morphogenesis assays, gene expression analysis, Wnt pathway inhibitor/activator (Wnt3a) treatments International Journal of Developmental Biology Medium 33629734
2018 LAMA5 knockdown in human umbilical vein endothelial cells (HUVECs) decreases proliferation, migration, and vascular tube formation and increases apoptosis; mechanistically, reduced LAMA5 inhibits PI3K downstream p-AKT and p-mTOR protein expression. siRNA knockdown, CCK-8 proliferation assay, flow cytometry apoptosis, transwell migration, western blot of PI3K/AKT/mTOR pathway Journal of Maternal-Fetal and Neonatal Medicine Medium 30200802
2023 CAF-secreted LAMA5 signals through integrin α4 and STAT3 to drive acinar-to-ductal metaplasia in pancreatic cells; proteomic and transcriptomic integration identified the LAMA5/integrin α4/STAT3 axis, validated by KD experiments in cell lines, acinar explant co-cultures, and mouse models. CAF co-culture, conditioned medium experiments, LC-MS/MS proteomics, RNA-seq, confocal microscopy, immunoblotting, qRT-PCR, organoid and explant models Gastroenterology High 38154529
2023 LAMA5 knockdown in ovarian cancer cells inhibits cell proliferation, migration, and invasion in vitro and in vivo and reduces expression of EMT markers and Notch signaling pathway-related markers, placing LAMA5 upstream of Notch and EMT programs. Lentiviral shRNA knockdown, in vitro proliferation/migration/invasion assays, in vivo xenograft, western blot/qPCR for Notch and EMT markers FASEB Journal Medium 37527216
2022 A heterozygous LAMA5 variant (p.Val3687Met) impairs secretion of the laminin α5 LG4-5 domain in a cell-type-dependent manner; knockin mice develop FSGS-like glomerulopathy with reduced laminin α5 and increased glomerular vinculin levels, indicating that impaired LAMA5 secretion and consequent defective cell adhesion underlie the glomerulopathy. In vitro secretion assay of LG4-5 domain, knockin mouse model (heterozygous and homozygous), histopathology, immunofluorescence for laminin α5 and vinculin JCI Insight Medium 36173685
2011 Human LAMA5 transgene expression in mouse kidney suppresses endogenous mouse Lama5 mRNA and laminin α5 protein deposition, demonstrating the existence of a laminin expression monitor in kidney that regulates overall production of basement membrane protein; human laminin α5 is deposited from both glomerular endothelial cells and podocytes. Transgenic mice (BAC-based human LAMA5), immunoelectron microscopy, northern/western blot, mRNA quantification PLoS One Medium 21915268
2023 LAMA5 silencing in murine palatal process cells causes cleft palate by inhibiting cell proliferation (reduced ki67, cyclin D1) and promoting apoptosis (increased caspase 3), and interferes with the SHH signaling pathway (reduced GLI1) without affecting EMT markers or Shh/Ptch1 expression. shRNA adenovirus transfection of E13.5 mouse palatal process, ex vivo organ culture fusion assay, PCR, western blot Biomedical Journal Medium 37390938
2025 Glucocorticoid receptor (GR) directly targets LAMA5 as a transcriptional target gene; corticosterone-GR-LAMA5 axis mediates chronic psychological stress-induced cardiomyocyte hypertrophy, validated in vivo and in vitro. Animal stress models, in vitro cardiomyocyte experiments, GR target gene identification (confirmed in vivo and in vitro) Advanced Science Medium 40642838
2025 MAZ (Myc-associated zinc finger protein) transcription factor binds the LAMA5 promoter and activates LAMA5 transcription; LAMA5 in turn activates STAT3 signaling to promote gastric cancer cell proliferation and migration. ChIP assay, luciferase reporter assay, shRNA knockdown of MAZ and LAMA5, STAT3 activator rescue (Colivelin), CCK-8, colony formation, wound healing, Transwell assays, in vivo tumor models Functional & Integrative Genomics Medium 40072648
2025 Loss of LAMA5 in human urine-derived stem cells impairs chondrogenesis and disrupts WNT signaling; WNT7A and FLI1 are key dysregulated genes, and pharmacologic WNT activation (LiCl) partially restores their expression, indicating LAMA5 is required for ECM–WNT signaling integration during chondrogenesis. CRISPR/Cas9 LAMA5 knockout, 2D/3D chondrogenic differentiation, bulk RNA-seq, WGCNA, LiCl pharmacologic rescue, qPCR bioRxivpreprint Medium
2025 In zebrafish, laminin α5 (Lama5) interacts with integrin α6b to maintain apicobasal polarity and epithelial identity in basal epidermal cells; loss of Lama5 reduces E-cadherin localization and promotes mesenchymal traits, and the integrin α6b mutant phenotype is not exacerbated in the double mutant, placing Lama5 and integrin α6b in the same pathway. Zebrafish lama5 loss-of-function, integrin α6b mutant, double mutant epistasis, confocal imaging of E-cadherin and polarity markers bioRxivpreprint Medium
2025 In zebrafish posterior lateral line primordium, laminin α5 (Lama5) is a key basement membrane component underlying migrating epithelial cells; simultaneous depletion of lama5 and itga6b (integrin α6b) markedly decreases collective migration velocity and ultimately blocks migration, whereas loss of lama5 alone compromises basement membrane integrity without impairing migration, revealing redundancy between Lama5 and integrin α6b adhesion systems. Zebrafish lama5 and itga6b loss-of-function, double mutant/morphant analysis, live imaging of collective cell migration bioRxivpreprint Medium
2025 In cerebral blood vessels, endothelial-specific loss of laminin α5 (Tek-cre:Lama5-/-) alters vascular zonation and junctional protein expression; compensatory upregulation of laminin α5 in Lama4-/- vessels enhances expression of junctional proteins (Ocln, Cldn5) and promotes vessel contractility, demonstrating that laminin α4/α5 ratios regulate functional zonation between arterioles, capillaries, and postcapillary venules. Single-cell RNA sequencing of cerebral blood vessels from conditional KO and Lama4-/- mice, in vitro and in vivo studies, transcriptomic profiling bioRxivpreprint Medium
2024 Luminal deletion of Lama5 in MMTV-PyMT mice markedly reduces emergence of early mammary hyperplasias and shifts phenotype from mature HR+ luminal epithelial to HR+ progenitor; biallelic Lama5 deletion causes widespread ECM and FGF signaling alterations including overexpression of Fgfr2, and inhibition of FGF receptors induces apoptosis specifically in Lama5-deleted organoids, revealing an ECM–FGF signaling interplay in mammary tumorigenesis. Conditional Lama5 deletion (prepubertal luminal), MMTV-PyMT mouse model, organoid culture, FGF receptor inhibitor treatment, gene expression analysis bioRxivpreprint Medium

Source papers

Stage 0 corpus · 33 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2019 Tumour-Derived Laminin α5 (LAMA5) Promotes Colorectal Liver Metastasis Growth, Branching Angiogenesis and Notch Pathway Inhibition. Cancers 69 31064120
2016 BCAM and LAMA5 Mediate the Recognition between Tumor Cells and the Endothelium in the Metastatic Spreading of KRAS-Mutant Colorectal Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 58 27143691
2017 Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. Journal of medical genetics 39 28735299
2018 COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect? BMC nephrology 37 29764427
2017 Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. American journal of medical genetics. Part A 31 28544784
2023 LAMA5 promotes cell proliferation and migration in ovarian cancer by activating Notch signaling pathway. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 28 37527216
2023 Cancer-Associated Fibroblast Induces Acinar-to-Ductal Cell Transdifferentiation and Pancreatic Cancer Initiation Via LAMA5/ITGA4 Axis. Gastroenterology 27 38154529
2019 Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 27 29534211
2016 Transformed MDCK cells secrete elevated MMP1 that generates LAMA5 fragments promoting endothelial cell angiogenesis. Scientific reports 27 27324842
2012 Abnormal Wnt and PI3Kinase signaling in the malformed intestine of lama5 deficient mice. PloS one 25 22666383
2022 Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy. Frontiers in molecular neuroscience 24 35663266
2018 LAMA5 promotes human umbilical vein endothelial cells migration, proliferation, and angiogenesis and is decreased in preeclampsia. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 18 30200802
2021 Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome. Kidney360 13 35419533
2018 Early posterior vitreous detachment is associated with LAMA5 dominant mutation. Ophthalmic genetics 11 30589377
2020 Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia. EBioMedicine 10 33242826
2021 A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background. Kidney international 9 34774562
2018 A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Annals of the New York Academy of Sciences 8 29377152
2010 Association of a common LAMA5 variant with anthropometric and metabolic traits in an Italian cohort of healthy elderly subjects. Experimental gerontology 7 20951195
2016 Association of the Laminin, Alpha 5 (LAMA5) rs4925386 with height and longevity in an elderly population from Southern Italy. Mechanisms of ageing and development 6 26968355
2022 A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects. JCI insight 5 36173685
2016 Rare Variants in LAMA5 Gene associated with FLT4 and FOXC2 Mutations in Primary Lymphedema May Contribute to Severity. Lymphology 5 29908552
2011 Transgenic expression of human LAMA5 suppresses murine Lama5 mRNA and laminin α5 protein deposition. PloS one 5 21915268
2021 Canonical Wnt signaling regulates branching morphogenesis of submandibular gland by modulating levels of lama5. The International journal of developmental biology 4 33629734
2023 Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene. Pediatric nephrology (Berlin, Germany) 3 37985485
2020 Gene-based association analysis reveals involvement of LAMA5 and cell adhesion pathways in nicotine dependence in African- and European-American samples. Addiction biology 3 32281736
2025 The role of LAMA5 in breast cancer progression and its potential in immunotherapy. Discover oncology 2 40694271
2023 LAMA5-inspired adhesive dodecapeptide facilitates efficient dentine regeneration: An in vitro and in vivo study. International endodontic journal 2 37632694
2012 Common variants in the LAMA5 gene associate with fasting plasma glucose and serum triglyceride levels in a cohort of pre-and early pubertal children. Journal of pediatric genetics 2 23264881
2025 Chronic Psychological Stress Induces Cardiomyocyte Hypertrophy Through Corticosterone-Glucocorticoid Receptor-LAMA5 Axis. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 1 40642838
2023 LAMA5: A new pathogenic gene for non-syndromic cleft lip with or without cleft palate. Biomedical journal 1 37390938
1998 Evaluation of Lama5 as a candidate for the mouse ragged (Ra) mutation. Biochemical and biophysical research communications 1 9735344
2025 MAZ-mediated LAMA5 transcription activation promotes gastric cancer progression through the STAT3 signaling. Functional & integrative genomics 0 40072648
2025 Integrated Mendelian randomization analysis reveals causal relationship between LAMA5 and bladder cancer and its metabolic mechanisms. Contemporary oncology (Poznan, Poland) 0 41098863