PALISSON ETCHARREN, FRANCIS
Preferred name
PALISSON ETCHARREN, FRANCIS
Official Name
PALISSON ETCHARREN, FRANCIS
Main Affiliation
Email
fpalisson@udd.cl
ORCID
0000-0001-9196-841X
Scopus Author ID
18037973900
41 results
Now showing 1 - 10 of 41
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Item type:Publication, KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients(2025); ; 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, <i>De Novo COL7A1</i> mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome(2012); María J. Gana<jats:title>Abstract</jats:title><jats:p><jats:bold>Background </jats:bold> Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and erosions after minor trauma. Dystrophic EB (DEB) is inherited as an autosomal dominant (DDEB) or recessive (RDEB) trait. Both forms are caused by mutations in <jats:italic>COL7A1</jats:italic>, the gene coding for the type VII collagen. We report a patient affected by both conditions: DS and DDEB.</jats:p><jats:p><jats:bold>Methods </jats:bold> A patient with DS developed generalized blisters at the age of three months. Cytogenetic study was performed to confirm DS. Skin biopsies were examined with immunohistochemical and electron microscopy techniques to determine EB subtype. Genomic DNA was extracted from peripheral blood samples. <jats:italic>COL7A1</jats:italic> mutations were screened by heteroduplex analysis using conformation‐sensitive gel electrophoresis and sequencing.</jats:p><jats:p><jats:bold>Results </jats:bold> Karyotype analysis revealed trisomy 21. Histological study agreed with a DEB diagnosis. Mutational analysis showed a heterozygous c.6127G>T mutation in <jats:italic>COL7A1</jats:italic>, which is compatible with DDEB. Parental study suggests that c.6127G>T arises as a <jats:italic>de novo</jats:italic> mutation.</jats:p><jats:p><jats:bold>Conclusions </jats:bold> This report demonstrates that EB can be associated with other common conditions and reports the case of a patient who suffered two <jats:italic>de novo</jats:italic> independent genetic conditions. It also contributes to expanding the knowledge and database of clinical and molecular aspects of DDEB.</jats:p>32Scopus© Citations 3 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry(2021); 19Scopus© Citations 7 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Manifestaciones orales de la epidermolisis bulosa en el niño(Sociedad Chilena de Pediatria, 2005-12)2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Patients suffering from dystrophic epidermolysis bullosa are prone to developing autoantibodies against skin proteins: A longitudinal confirmational study(2024)Scopus© Citations 3 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa(2024); Scopus© Citations 1 4 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo(2022)Scopus© Citations 9 7 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Scopus© Citations 11 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa(2012); Scopus© Citations 14 1 - Some of the metrics are blocked by yourconsent settings
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