PALISSON ETCHARREN, FRANCIS
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PALISSON ETCHARREN, FRANCIS
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PALISSON ETCHARREN, FRANCIS
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fpalisson@udd.cl
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18037973900

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Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy

2019 , Agnes Schwieger-Briel , FUENTES BUSTOS, MARIA IGNACIA , Daniele Castiglia , Antonio Barbato , Matthias Greutmann , Juna Leppert , Sabine Duchatelet , Alain Hovnanian , Sofia Burattini , M. Joao Yubero , Rodrigo Ibañez-Arenas , Boris Rebolledo-Jaramillo , Christoph Gräni , Hagen Ott , Martin Theiler , Lisa Weibel , Amy S. Paller , Giovanna Zambruno , Judith Fischer , Francis Palisson , Cristina Has

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Longitudinal study of wound healing status and bacterial colonisation of Staphylococcus aureus and Corynebacterium diphtheriae in epidermolysis bullosa patients

2022 , FUENTES BUSTOS, MARIA IGNACIA , YUBERO GONCALVEZ, MARIA JOAO , Pilar Morandé , Carmen Varela , Karen Oróstica , Francisco Acevedo , REBOLLEDO JARAMILLO, BORIS EDUARDO , Esteban Arancibia , PORTE TORRE, LORENA ISABEL , PALISSON ETCHARREN, FRANCIS

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APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

2018 , Raymond J. Cho , Ludmil B. Alexandrov , Nicoline Y. den Breems , Velina S. Atanasova , Mehdi Farshchian , Elizabeth Purdom , Tran N. Nguyen , Cristian Coarfa , Kimal Rajapakshe , Marco Prisco , Joya Sahu , Patrick Tassone , Evan J. Greenawalt , Eric A. Collisson , Wei Wu , Hui Yao , Xiaoping Su , Christina Guttmann-Gruber , Josefina Piñón Hofbauer , Raabia Hashmi , Ignacia Fuentes , Stephen C. Benz , Justin Golovato , Erik A. Ehli , Christel M. Davis , Gareth E. Davies , Kyle R. Covington , Dedee F. Murrell , Julio C. Salas-Alanis , Francis Palisson , Anna L. Bruckner , William Robinson , Cristina Has , Leena Bruckner-Tuderman , Matthias Titeux , Marcel F. Jonkman , Elham Rashidghamat , Su M. Lwin , Jemima E. Mellerio , John A. McGrath , Johann W. Bauer , Alain Hovnanian , Kenneth Y. Tsai , Andrew P. South

Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis.

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Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations

2021 , Blanca Urzúa , Susanne Krämer , Irene Morales-Bozo , Claudia Camacho , YUBERO GONCALVEZ, MARIA JOAO , PALISSON ETCHARREN, FRANCIS , FUENTES BUSTOS, MARIA IGNACIA , Ana Ortega-Pinto

Background: Epidermolysis bullosa (EB) corresponds to a series of conditions characterized by extreme fragility of the skin and/or mucous membranes. Of the four main types of EB, junctional EB (JEB) is the most associated with alterations in the teeth. The purposes of this study were to determine the clinical, histopathological, and ultrastructural characteristics of teeth with amelogenesis imperfecta (AI) in a patient with JEB, and compare them with control teeth, and correlate the findings with the mutations present in the patient.Case Report: The study was conducted on a 10-year-old patient with JEB carrier of two recessive mutations in the LAMB3 gene and absence of the laminin-332 protein (LM-332), determined by immunofluorescence on a skin biopsy. The patient presents hypoplastic AI with very thin and yellow-brown colored enamel. Extraction of two permanent molars was performed due to pain and soft tissue covering the crown, resembling pulp polyp or hyperplastic gingiva. Light and scanning electron microscopy (SEM) revealed very thin enamel varying from complete absence to 60 μm, absence of normal prismatic structure, and presence of a cross-banding with a laminated appearance. The histopathological study revealed granulation tissue causing external crown resorption.Conclusion: Although coronary resorption has been reported in patients with syndromic and non-syndromic AI, this is the first clinicopathological report of coronary resorption in partially erupted teeth in patients with JEB with mutations in the LAMB3 gene and hypoplastic AI. In patients with this condition, the presence of partially erupted teeth with soft tissue covering part of the crown, without a periodontal pocket, and with a radiographic image of partial coronal radiolucency should lead to suspicion of external coronary resorption.

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Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo

2022 , Qingqing Cao , Grace Tartaglia , Michael Alexander , Pyung Hung Park , Shiv Poojan , Mehdi Farshchian , FUENTES BUSTOS, MARIA IGNACIA , Mei Chen , John A. McGrath , PALISSON ETCHARREN, FRANCIS , Julio Salas-Alanis , Andrew P. South

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PROGNOSIS OF PATIENTS WITH EPIDERMOLYSIS BULLOSA INFECTED WITH PSEUDOMONA AERUGINOSA

2020 , YUBERO GONCALVEZ, MARIA JOAO , FUENTES BUSTOS, MARIA IGNACIA , PALISSON ETCHARREN, FRANCIS , Susanne Kramer , Fuentes, Constanza

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Life-Threatening Complications Following Orthognathic Surgery in a Patient With Undiagnosed Hereditary Angioedema

2013 , Julio Cifuentes , Francis Palisson , Salvador Valladares , Daniel Jerez

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Reply to “Whether the absence of tongue papillae caused by various reasons can be regarded as the clinical standard of a certain disease”

2020 , Susanne Krämer , FUENTES BUSTOS, MARIA IGNACIA , María Joao Yubero , Anne W. Lucky , Francis Palisson

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

2017 , M. Campos , REPETTO LISBOA, MARIA GABRIELA , P. Morandé , YUBERO GONCALVEZ, MARIA JOAO , S. Gonzalez , A. Klausegger , P. Schnitzhofer , G. Pohla-Gubo , J. Bauer , PALISSON ETCHARREN, FRANCIS , FUENTES BUSTOS, MARIA IGNACIA

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Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa

2020 , FUENTES BUSTOS, MARIA IGNACIA , Christina Guttmann-Gruber , Birgit Tockner , Anja Diem , Alfred Klausegger , Glenda Cofré-Araneda , Olga Figuera , Yessia Hidalgo , Pilar Morandé , PALISSON ETCHARREN, FRANCIS , Boris Rebolledo-Jaramillo , YUBERO GONCALVEZ, MARIA JOAO , Raymond J. Cho , Heather I. Rishel , M. Peter Marinkovich , Joyce M. C. Teng , Timothy G. Webster , Marco Prisco , Luis H. Eraso , Josefina Piñon Hofbauer , Andrew P. South

AbstractImpaired wound healing complicates a wide range of diseases and represents a major cost to healthcare systems. Here we describe the use of discarded wound dressings as a novel, cost effective, accessible, and non-invasive method of isolating viable human cells present at the site of skin wounds. By analyzing 133 discarded wound dressings from 51 patients with the inherited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers of cells, often in excess of 100 million per day, continually infiltrate wound dressings. We show, that the method is able to differentiate chronic from acute wounds, identifying significant increases in granulocytes in chronic wounds, and we show that patients with the junctional form of EB have significantly more cells infiltrating their wounds compared with patients with recessive dystrophic EB. Finally, we identify subsets of granulocytes and T lymphocytes present in all wounds paving the way for single cell profiling of innate and adaptive immune cells with relevance to wound pathologies. In summary, our study delineates findings in EB that have potential relevance for all chronic wounds, and presents a method of cellular isolation that has wide reaching clinical application.

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