Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene

Muruzábal, R. Santesteban; A, Irurzun; Arroyo, Μ.

doi:10.1016/j.adengl.2016.03.014

Cited by 2 publications

(8 citation statements)

References 11 publications

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“…Previous studies have shown diseases associated with ALOX12B include collodion baby (30,31) with autosomal recessive congenital ichthyosis (32). Low expression levels of ALOX12B were found to significantly reduce both cell proliferation and clone formation ability, and block cell cycle at G1 phase in cervical cancer.…”

Section: Discussionmentioning

confidence: 94%

“…Tumor growth was also suppressed in vivo in a xenograft tumor model (33). Studies associating PACSIN1 have revealed that it works as a critical regulator of synaptic inhibition (30), regulator for tolllike receptor (TLR)7/9 interferon response (34), for axonal elongation and branching (35), and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPA) receptor trafficking (36). PACSIN1 had been detected low expression levels in grade IV, IDH1 wild-type and 1p/19q non-codel group gliomas, its expression levels were positively correlated with OS in all gliomas and negatively correlated with the malignant degree of gliomas.…”

Section: Discussionmentioning

confidence: 99%

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Prediction and prognostic significance of ALOX12B and PACSIN1 expression in gastric cancer by genome-wide RNA expression and methylation analysis

Liu¹,

Li²,

Li³

et al. 2021

J Gastrointest Oncol

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Background: Stomach adenocarcinoma (STAD) is one of the common gastrointestinal cancers, characterized by late discovery and metastasis. However, research of gene methylation and expression in gastric cancer (GC) metastasis has been quite limited. This study aimed to investigate the altered gene expression patterns between metastasis and non-metastasis samples using high-throughput RNA and methylation profiles from a large number of patients. Another aim was to identify a specific potential metastasis biomarker, with the ability to predict the metastasis possibility and prognosis of patients with STAD.Methods: In this study, we integrated The Cancer Genome Atlas (TCGA) program STAD datasets, analyzed the RNA expression and DNA methylation data between non-metastasis (M0) and distant metastasis (M1) samples, and evaluated the candidate biomarker in survival and prognosis of GC.Results: Among all patients enrolled, 329 with M0 and M1 information were positive for RNA analysis, and 353 with M0 and M1 information were positive for methylation analysis. We found 29 upregulated and 200 downregulated genes in RNA level, and 5,046 hypermethylated and 8,563 hypomethylated probes in methylation level. Among these genes, we found high RNA expression level and low DNA methylation level of ALOX12B and PACSIN1 in GC metastasis samples. Patients with high expression of these 2 genes had poor overall survival (OS), progression-free survival (PFS), and post-progression survival (PPS). Conclusions:The expression levels of ALOX12B and PACSIN1 were higher in the metastasis than nonmetastasis group, and participants with high expression of these 2 genes were found to have poor survival.The genes ALOX12B and PACSIN1 are potential biomarkers of metastasis and poor prognosis, especially in early stage GC, and provide additional information for subsequent comprehensive treatment of GC.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Prediction and prognostic significance of ALOX12B and PACSIN1 expression in gastric cancer by genome-wide RNA expression and methylation analysis

Liu¹,

Li²,

Li³

et al. 2021

J Gastrointest Oncol

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“…In most studies, SICI represents 10-24% of ARCI cases, but in a Spanish report, it only accounted for 4.2% [1]. This phenotype has been associated with mutations in TGM1, ALOXE3, ALOX12B, and, more recently, CYP4F22 genes [1][2][3].…”

Section: Case Discussionmentioning

confidence: 99%

“…Autosomal recessive congenital ichthyosis (ARCI) is a major subgroup of the non-syndromic forms of congenital ichthyosis, characterized by abnormal skin cornification with hyperkeratosis, diffuse scaling, and a variable degree of erythema. Most of these patients are born as collodion babies (CB), a term that refers to the presence of a thin membrane encasing the whole body [1]. This rare condition, with an incidence between 1/50,000-100,000 births, can evolve into very different phenotypes, from severe ichthyosis to minor forms, like self-improving collodion ichthyosis (SICI), a rare subtype, characterized by almost complete remission [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…Most of these patients are born as collodion babies (CB), a term that refers to the presence of a thin membrane encasing the whole body [1]. This rare condition, with an incidence between 1/50,000-100,000 births, can evolve into very different phenotypes, from severe ichthyosis to minor forms, like self-improving collodion ichthyosis (SICI), a rare subtype, characterized by almost complete remission [1,2].…”

Section: Introductionmentioning

confidence: 99%

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