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Inherited epidermolysis bullosa: clinical and therapeutic aspects
(Brasil, 2013)
Inherited epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing patients to the development of blisters and/or erosions after ...
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa
(Wiley, 2020)
Background: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features.
Aims: To provide (a) a complete review of the oral manifestations in those living with ...
Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy
(2019)
Inherited epidermolysis bullosa (EB) comprises rare heterogeneous disorders characterized by cutaneous and mucosal fragility. Most of the 20 proteins affected have structural functions. Recently, a previously undescribed ...
Manifestações clínicas da epidermólise bolhosa: Revisão de literatura
(2012-06-04)
Introduction: Epidermolysis bullosa is a rare inherited skin condition characterized by the development of blisters on mucocutaneous regions of the body in response to minor traumas, heat or no apparent cause. It may ...
Epidermolysis bullosa simplex-generalized severe due to p.Glu477Lys mutation in keratin 5: a genotype-phenotype correlation with in silico modeling analysis
(2019)
Background/Objectives: Epidermolysis bullosa is a group of diseases caused by mutations in skin structural proteins. Availability of genetic sequencing makes identification of causative mutations easier, and genotype‐phenotype ...
Pro-inflammatory chemokines and cytokines dominate the blister fluid molecular signature in patients with epidermolysis bullosa and affect leukocyte and stem cell migration
(Elsevier, 2017)
Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the development of
chronic nonhealing wounds. Although clinical studies have shown that cell-based therapies improve
wound healing, the recruitment ...
Pro-inflammatory chemokines and cytokines dominate the blister fluid molecular signature in patients with epidermolysis bullosa and affect leukocyte and stem cell migration
(Elsevier, 2017)
Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the development of
chronic nonhealing wounds. Although clinical studies have shown that cell-based therapies improve
wound healing, the recruitment ...
Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24
(2021)
Fibroblasts from two patients carrying a heterozygous mutation in the translation initiation codon (c.2 T > G) of the kelch-like protein 24 (KLHL24) gene were used to
generate human induced pluripotent stem cells (hiPSCs), ...