| Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients. | Expanding the spectrum of LAMB2: Pierson syndrome associated with neuromuscular junction disorder in two patients.
Paiz F, Alawneh I, Nigro E, Gonorazky HD. | 06/27/2024 |
| Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant. | Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.
Alshamrani AA, Magliyah M, Alkuraya FS, Alabdi L, Alfaadhel TA, Alsulaiman SM. | 02/12/2024 |
| Laminin beta2 variants associated with isolated nephropathy that impact matrix regulation. | Laminin β2 variants associated with isolated nephropathy that impact matrix regulation.
Kikkawa Y, Hashimoto T, Takizawa K, Urae S, Masuda H, Matsunuma M, Yamada Y, Hamada K, Nomizu M, Liapis H, Hisano M, Akioka Y, Miura K, Hattori M, Miner JH, Harita Y., Free PMC Article | 03/19/2022 |
| Development of neovascular glaucoma after intraocular surgery in Pierson syndrome. | Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.
Magliyah MS, Alsulaiman SM. | 01/1/2022 |
| Collectively, these data show the pathogenicity of LAMB2-S80R and provide the first evidence of genetic modification of Alport phenotypes by variation in another GBM component. This | Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.
Funk SD, Bayer RH, Malone AF, McKee KK, Yurchenco PD, Miner JH., Free PMC Article | 09/21/2019 |
| Age-related modulation of laminin beta1 versus beta2 chain expression changes the functional properties and phenotype of endothelial cells. The dysregulation of the extracellular matrix during vascular aging may contribute to age-associated impairment of organ function and fibrosis. | Switch in Laminin β2 to Laminin β1 Isoforms During Aging Controls Endothelial Cell Functions-Brief Report.
Wagner JUG, Chavakis E, Rogg EM, Muhly-Reinholz M, Glaser SF, Günther S, John D, Bonini F, Zeiher AM, Schaefer L, Hannocks MJ, Boon RA, Dimmeler S. | 07/13/2019 |
| Disruption of LAMA4, LAMA5, and LAMB2 or the laminin-receptor interaction occurs in neuromuscular diseases including Pierson syndrome and Lambert-Eaton myasthenic syndrome (LEMS). (Review) | The role of laminins in the organization and function of neuromuscular junctions.
Rogers RS, Nishimune H., Free PMC Article | 01/6/2018 |
| In conclusion, we reported three Chinese cases with different LAMB2 mutations and different phenotypes, further broadening the range of eye and kidney pathology associated with mutations in LAMB2. | LAMB2 mutation with different phenotypes in China
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Zhang H, Cui J, Wang F, Xiao H, Ding J, Yao Y. | 02/25/2017 |
| Laminins 411 and 421 differentially promote tumor cell migration via alpha6beta1 integrin and MCAM (CD146). | Laminins 411 and 421 differentially promote tumor cell migration via α6β1 integrin and MCAM (CD146).
Ishikawa T, Wondimu Z, Oikawa Y, Gentilcore G, Kiessling R, Egyhazi Brage S, Hansson J, Patarroyo M. | 09/10/2015 |
| No pathogenic LAMB2 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis. | Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
Bińczak-Kuleta A, Rubik J, Litwin M, Ryder M, Lewandowska K, Taryma-Leśniak O, Clark JS, Grenda R, Ciechanowicz A., Free PMC Article | 01/17/2015 |
| Comprehensive gene sequencing revealed a novel LAMB2 variant (c.440A --> G; His147R) that was homozygous in the 9 living, affected family members, observed at a frequency of 2.1% in the Old Order Mennonite population, and absent in 91 non-Mennonite controls | A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC., Free PMC Article | 11/24/2012 |
| Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in LAMB2. | Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
Mbarek IB, Abroug S, Omezzine A, Pawtowski A, Gubler MC, Bouslama A, Harbi A, Antignac C. | 04/23/2011 |
| All previously reported and several novel LAMB2 mutations in relation to the associated phenotype in patients from 39 unrelated families, are reviewed. | Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M., Free PMC Article | 12/11/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
So HC, Fong PY, Chen RY, Hui TC, Ng MY, Cherny SS, Mak WW, Cheung EF, Chan RC, Chen EY, Li T, Sham PC. | 12/2/2009 |
| beta2 chain-containing laminins (beta2-laminins) bound more avidly to alpha3beta1 and alpha7X2beta1 integrins than beta1 chain-containing laminins (beta1-laminins). | The C-terminal region of laminin beta chains modulates the integrin binding affinities of laminins.
Taniguchi Y, Ido H, Sanzen N, Hayashi M, Sato-Nishiuchi R, Futaki S, Sekiguchi K., Free PMC Article | 01/21/2010 |
| LM alpha4 and beta2 have roles in in vitro migration and in vivo tumorigenicity of prostate cancer cells | Senescence-induced alterations of laminin chain expression modulate tumorigenicity of prostate cancer cells.
Sprenger CC, Drivdahl RH, Woodke LB, Eyman D, Reed MJ, Carter WG, Plymate SR., Free PMC Article | 01/21/2010 |
| Study excluded LAMB2 as a candidate gene for Galloway-Mowat syndrome. | Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.
Dietrich A, Matejas V, Bitzan M, Hashmi S, Kiraly-Borri C, Lin SP, Mildenberger E, Hoppe B, Palm L, Shiihara T, Steiss JO, Tsai JD, Vester U, Weber S, Wühl E, Zepf K, Zenker M. | 01/21/2010 |
| Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development. | Ophthalmological aspects of Pierson syndrome.
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I. | 01/21/2010 |
| Milder phenotypes of Pearson Syndrome may be related to hypomorphic LAMB2 alleles. | A milder variant of Pierson syndrome.
Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. | 01/21/2010 |
| Pierson syndrome is defined by the association of mental retardation, microcoria and DMS caused by mutation in LAMB2 gene | Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F. | 01/21/2010 |
| Study summarizes recent progress concerning the molecular mechanisms of laminins in development and disease. | Laminin isoforms in development and disease.
Schéele S, Nyström A, Durbeej M, Talts JF, Ekblom M, Ekblom P. | 01/21/2010 |
| We demonstrated that overabundance of the beta2 chain of laminin is associated with increased basement membrane thickness and is possibly related to spermatogenic dysfunction | Expression and distribution of laminin chains in the testis for patients with azoospermia.
Ooba T, Ishikawa T, Yamaguchi K, Kondo Y, Sakamoto Y, Fujisawa M. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (2) articlesEye involvement in children with primary focal segmental glomerulosclerosis.
Ozaltin F, Heeringa S, Poyraz CE, Bilginer Y, Kadayifcilar S, Besbas N, Topaloglu R, Ozen S, Hildebrandt F, Bakkaloglu A. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F, Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group. | 03/13/2008 |
| Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. | Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.
Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nürnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Bröking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nürnberg P, Zenker M, Hildebrandt F. | 01/21/2010 |