Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent <i>LAMB3</i>
 mutations in Chilean patients with diagnostic significance

Fuentes, Ignacia; Campos, Mário; Repetto, Gabriela M.; Morandé, Pilar; Yubero, María Joao; González, Sergio; Klausegger, Alfred; Schnitzhofer, Peter; Pohla‐Gubo, G.; Bauer, Johann; Palisson, Francis

doi:10.1111/bjd.14920

Cited by 18 publications

(17 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As expected, JEB was the EB type with the lowest prevalence and associated to the most severe clinical symptoms and to the highest risk of infant mortality . In developing countries such as Brazil, infant mortality may be even higher.…”

Section: Discussionsupporting

confidence: 69%

“…4,8 As expected, JEB was the EB type with the lowest prevalence and associated to the most severe clinical symptoms and to the highest risk of infant mortality. [47][48][49] In developing countries such as Brazil, infant mortality may be even higher. Despite the limitation of the small number of JEB patients analyzed, we could disclose four novel pathogenic variants, all private to families ( Table 2).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

et al. 2019

View full text Add to dashboard Cite

Epidermolysis bullosa (EB) is a genodermatosis that encompasses a group of clinically and genetically heterogeneous disorders classified in four major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty‐seven patients (25 EBS, 4 JEB and 58 DEB) were studied. We performed a next‐generation sequencing‐based multigene panel through ion torrent technology including 11 genes: KRT5, KRT14, PLEC, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGB4, COL7A1, and FERMT1. A total of 72 different pathogenic or likely pathogenic variants were identified, 32 of them are novel. The causal variant was detected in 82 patients (efficiency of 94.3%). Pathogenic variants in the residue 125 of KRT14 were identified in 32% of all EBS patients. In DEB patients, four COL7A1 variants were quite frequent, some of them clustered in specific Brazilian regions. Our study extends the spectrum of known mutations in EB and describes, for the first time, the genetic profile of EB patients from Brazil.

show abstract

Section: Discussionsupporting

confidence: 69%

Section: Discussionmentioning

confidence: 99%

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Many recent studies have indicated that adhesion and extracellular matrix proteins contribute to the progression of a variety of solid tumors, including pancreatic cancer 20–22 . LM-332, which is encoded by LAMA3, LAMB3, and LAMC2, is related to tumor invasiveness in various types of malignant tumors 23–25 . LAMB3 is a potential biomarker of cancer invasion and metastasis that is involved in the focal adhesion pathway, but a role for LAMB3 in pancreatic cancer has not been investigated previously 26,27 .…”

Section: Discussionmentioning

confidence: 99%

LAMB3 mediates apoptotic, proliferative, invasive, and metastatic behaviors in pancreatic cancer by regulating the PI3K/Akt signaling pathway

et al. 2019

View full text Add to dashboard Cite

The poor prognosis of patients with pancreatic ductal adenocarcinoma (PDAC) is partially attributed to the invasive and metastatic behavior of this disease. Laminin subunit beta-3 (LAMB3) encodes one of the three subunits of LM-332, an extracellular matrix protein secreted by cultured human keratinocytes. In addition, LAMB3 is involved in the invasive and metastatic abilities of some types of cancer, including colon, pancreas, lung, cervix, stomach, and prostate cancer, but the role and mechanism of LAMB3 in PDAC have not been previously determined. Herein, we tentatively investigated the role of LAMB3 in the malignant biological behavior of PDAC. In this study, we demonstrated that LAMB3 is upregulated in PDAC. Inhibition of LAMB3 abrogated the tumorigenic outcomes of PI3K/Akt signaling pathway activation, including those involving cell cycle arrest, cell apoptosis, proliferation, invasion and migration in vitro, and tumor growth and liver metastasis in vivo. Our results showed that LAMB3 could mediate cell cycle arrest and apoptosis in PDAC cells and alter the proliferative, invasive, and metastatic behaviors of PDAC by regulating the PI3K/Akt signaling pathway. LAMB3 may be a novel therapeutic target for the treatment of PDAC in the future.

show abstract

“…Residual laminin 332 results in intermediate generalized or localized phenotypes, and premature mortality appears to be rather an exception . In contrast, a mortality rate of 48% at the age of 15 years was reported, and a mean age of death of 6·9 years in 52% of cases, but these cohorts were genetically not clearly defined. Here we describe the natural history of JEB in three children with the same LAMA3 splice‐site mutation.…”

mentioning

confidence: 94%

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation

Reimer

Schwieger‐Briel

et al. 2018

British Journal of Dermatology

View full text Add to dashboard Cite

Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance

Cited by 18 publications

References 11 publications

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

LAMB3 mediates apoptotic, proliferative, invasive, and metastatic behaviors in pancreatic cancer by regulating the PI3K/Akt signaling pathway

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation

Contact Info

Product

Resources

About