Zobrazeno 1 - 10
of 215
pro vyhledávání: '"Jemima E, Mellerio"'
Autor:
Eunice Jeffs, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Jemima E. Mellerio
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Pain is common in the genetic skin fragility disorder epidermolysis bullosa (EB), from skin and mucosal injury and inflammation as well as extra-mucocutaneous sites. Individuals living with EB have identified pain as a priority fo
Externí odkaz:
https://doaj.org/article/27e4f7b2ca81471cbd3bb1f4d45ccf26
Autor:
Grace Tartaglia, Ignacia Fuentes, Neil Patel, Abigail Varughese, Lauren E Israel, Pyung Hun Park, Michael H Alexander, Shiv Poojan, Qingqing Cao, Brenda Solomon, Zachary M Padron, Jonathan A Dyer, Jemima E Mellerio, John A McGrath, Francis Palisson, Julio Salas-Alanis, Lin Han, Andrew P South
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 4, Pp 870-884 (2024)
Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered de
Externí odkaz:
https://doaj.org/article/68b1c43ece124fbe9f6ab1f212aefc96
Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study
Autor:
Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Eunice Jeffs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes. Objectives As part of a prospective register study of the natural hist
Externí odkaz:
https://doaj.org/article/fffd1c42edb4449fa70ef4bb51e829bf
Autor:
Jemima E. Mellerio, MD, Dimitra Kiritsi, MD, PhD, M. Peter Marinkovich, MD, Natividad Romero Haro, RN, Kellie Badger, RN, Meena Arora, MSc, Marc A. Dziasko, PhD, Mansi Vithlani, PhD, Anna E. Martinez
Publikováno v:
JAAD International, Vol 11, Iss , Pp 224-232 (2023)
Background: The pathophysiological processes underlying the phenotypic spectrum of severe forms of epidermolysis bullosa (EB) are complex and poorly understood. Objective: To use burden mapping to explore relationships between primary pathomechanisms
Externí odkaz:
https://doaj.org/article/e4ae6b17e7704c7d9028491aded80452
Autor:
Anthony Bewley, Fiona Browne, Alan D Irvine, Gerard Leavey, Amy S Paller, Jemima E Mellerio, Carleen Walsh, Marian Mc Laughlin
Publikováno v:
BMJ Open, Vol 13, Iss 1 (2023)
Introduction Ichthyoses comprise a heterogenous group of rare genetic skin disorders that involves the entire skin surface, often with additional syndromic features, and pose many clinical challenges. Without curative intervention, the mainstay of li
Externí odkaz:
https://doaj.org/article/4248cd9c4d214c8c8f76c1ca358cd99c
Autor:
Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has, Christine Bodemer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence of extra-cutaneous involvement an
Externí odkaz:
https://doaj.org/article/07f519bcf443446581d2b8e646e4026e
Autor:
Susan J. Robertson, Elizabeth Orrin, Manpreet K. Lakhan, Gavin O’Sullivan, Jessie Felton, Alistair Robson, Danielle T. Greenblatt, Catina Bernardis, John A. McGrath, Anna E. Martinez, Jemima E. Mellerio
Publikováno v:
Acta Dermato-Venereologica, Vol 101, Iss 8, p adv00523 (2021)
Epidermolysis bullosa (EB), notably severe recessive dystrophic EB (RDEB-S), is associated with increased risk of aggressive mucocutaneous squamous cell carcinomas, the major cause of mortality in early adulthood. This observational, retrospective ca
Externí odkaz:
https://doaj.org/article/8b167f2a55ce4ede8d6ac221f1842504
Autor:
Andrew P. South, Johann W. Bauer, Jemima E. Mellerio, John A. McGrath, Alain Hovnanian, Francis Palisson, Julio C. Salas-Alanis, Cristina Has, Elham Rashidghamat, Marco Prisco, Ignacia Fuentes, Josefina Piñón Hofbauer, Christina Guttmann-Gruber, Michael Warkala, Sheila Wright, Stephen A. Watt, Christian A. Brown, Michael Lawler, Mehdi Farshchian, Celine Pourreyron, Velina S. Atanasova
Figure S1-3 Table S1-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd0a0cd7a6b4e06fbf2d8797cffb1d4
https://doi.org/10.1158/1078-0432.22470552.v1
https://doi.org/10.1158/1078-0432.22470552.v1
Autor:
Andrew P. South, Johann W. Bauer, Jemima E. Mellerio, John A. McGrath, Alain Hovnanian, Francis Palisson, Julio C. Salas-Alanis, Cristina Has, Elham Rashidghamat, Marco Prisco, Ignacia Fuentes, Josefina Piñón Hofbauer, Christina Guttmann-Gruber, Michael Warkala, Sheila Wright, Stephen A. Watt, Christian A. Brown, Michael Lawler, Mehdi Farshchian, Celine Pourreyron, Velina S. Atanasova
Purpose:Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying why patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0175eebfae6b38001fb717000ca8f83
https://doi.org/10.1158/1078-0432.c.6527610.v1
https://doi.org/10.1158/1078-0432.c.6527610.v1
Autor:
Anna E. Martinez, Lu Liu, D T Greenblatt, Gabriela Petrof, S J Robertson, Jemima E. Mellerio, C Prodinger, C Skilbeck
Publikováno v:
Clinical and Experimental Dermatology. 47:717-723
Summary Background The rare inversa subtype of recessive dystrophic epidermolysis bullosa (RDEB-I) is characterized by predominant intertriginous skin blistering and marked mucosal involvement. Specific recessive missense mutations in the collagen VI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7bce28ed27a8c10cb63b9ce0638e72
https://doi.org/10.1111/ced.15029
https://doi.org/10.1111/ced.15029