Search Results - "Mellerio, Jemima E"

Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper by Doolan, Brent J, McGrath, John A, Mellerio, Jemima E

“…Dystrophic epidermolysis bullosa (DEB) is a rare inherited blistering skin disease that causes lifelong, slow-to-heal wounds, which predispose patients to…”
Get full text

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB by Fine, Jo-David, MD, MPH, FRCP, Eady, Robin A.J., DSc, FRCP, FMedSci, Bauer, Eugene A., MD, Bauer, Johann W., MD, Bruckner-Tuderman, Leena, MD, PhD, Heagerty, Adrian, MD, FRCP, Hintner, Helmut, MD, Hovnanian, Alain, MD, PhD, Jonkman, Marcel F., MD, PhD, Leigh, Irene, MD, FRCP, FMedSci, McGrath, John A., MD, FRCP, Mellerio, Jemima E., MD, FRCP, Murrell, Dedee F., MD, Shimizu, Hiroshi, MD, PhD, Uitto, Jouni, MD, PhD, Vahlquist, Anders, MD, PhD, Woodley, David, MD, Zambruno, Giovanna, MD

“…Background Since publication in 2000 of the Second International Consensus Report on Diagnosis and Classification of Epidermolysis Bullosa, many advances have…”
Get full text

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

“…Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin and mucous membrane fragility disorder complicated by early-onset, highly malignant…”
Get more information

Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) by Jeffs, Eunice, Pillay, Elizabeth I, Ledwaba-Chapman, Lesedi, Bisquera, Alessandra, Robertson, Susan J, McGrath, John A, Wang, Yanzhong, Martinez, Anna E, Mellerio, Jemima E

“…Pain is common in the genetic skin fragility disorder epidermolysis bullosa (EB), from skin and mucosal injury and inflammation as well as extra-mucocutaneous…”
Get full text

Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study by Robertson, Susan J, Orrin, Elizabeth, Lakhan, Manpreet K, O'Sullivan, Gavin, Felton, Jessie, Robson, Alistair, Greenblatt, Danielle T, Bernardis, Catina, McGrath, John A, Martinez, Anna E, Mellerio, Jemima E

“…Epidermolysis bullosa (EB), notably severe recessive dystrophic EB (RDEB-S), is associated with increased risk of aggressive mucocutaneous squamous cell…”
Get full text

Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study by Mellerio, Jemima E, Pillay, Elizabeth I, Ledwaba-Chapman, Lesedi, Bisquera, Alessandra, Robertson, Susan J, Papanikolaou, Marieta, McGrath, John A, Wang, Yanzhong, Martinez, Anna E, Jeffs, Eunice

“…Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes…”
Get full text

Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial by Di, Wei-Li, Lwin, Su M, Petrova, Anastasia, Bernadis, Catina, Syed, Farhatullah, Farzaneh, Farzin, Moulding, Dale, Martinez, Anna E, Sebire, Neil J, Rampling, Dyanne, Virasami, Alex, Zamiri, Mozheh, Wang, Wei, Hara, Havinder, Kadiyirire, Tendai, Abdul-Wahab, Alya, Martinez-Queipo, Magdalena, Harper, John I, McGrath, John A, Thrasher, Adrian J, Mellerio, Jemima E, Qasim, Waseem

“…Netherton syndrome (NS) is a rare autosomal recessive skin disorder caused by mutations in . It is a debilitating condition with notable mortality in the early…”
Get more information

Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa by Wong, Tracy, Gammon, Luke, Liu, Lu, Mellerio, Jemima E., Dopping-Hepenstal, Patricia J.C., Pacy, John, Elia, George, Jeffery, Rosemary, Leigh, Irene M., Navsaria, Harshad, McGrath, John A.

“…Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-blistering disorder caused by mutations in the COL7A1 gene that lead to reduced…”
Get full text

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases by Mellerio, Jemima E, El Hachem, Maya, Bellon, Nathalia, Zambruno, Giovanna, Buckova, Hana, Autrata, Rudolf, Salavastru, Carmen, Caldaro, Tamara, Greco, Celine, Has, Cristina, Bodemer, Christine

“…Abstract Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of…”
Get full text

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa by Tartaglia, Grace, Fuentes, Ignacia, Patel, Neil, Varughese, Abigail, Israel, Lauren E, Park, Pyung Hun, Alexander, Michael H, Poojan, Shiv, Cao, Qingqing, Solomon, Brenda, Padron, Zachary M, Dyer, Jonathan A, Mellerio, Jemima E, McGrath, John A, Palisson, Francis, Salas-Alanis, Julio, Han, Lin, South, Andrew P

“…Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic…”
Get full text

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility by McGrath, John A., Stone, Kristina L., Begum, Rumena, Simpson, Michael A., Dopping-Hepenstal, Patricia J., Liu, Lu, McMillan, James R., South, Andrew P., Pourreyron, Celine, McLean, W.H. Irwin, Martinez, Anna E., Mellerio, Jemima E., Parsons, Maddy

“…The Rab GTPase Rab27B and one of its effector proteins, Slac2-b (also known as EXPH5, exophilin-5), have putative roles in intracellular vesicle trafficking…”
Get full text

Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR by Campbell, Patrick, Morton, Penny E., Takeichi, Takuya, Salam, Amr, Roberts, Nerys, Proudfoot, Laura E., Mellerio, Jemima E., Aminu, Kingi, Wellington, Cheryl, Patil, Sachin N., Akiyama, Masashi, Liu, Lu, McMillan, James R., Aristodemou, Sophia, Ishida-Yamamoto, Akemi, Abdul-Wahab, Alya, Petrof, Gabriela, Fong, Kenneth, Harnchoowong, Sarawin, Stone, Kristina L., Harper, John I., Irwin McLean, W.H., Simpson, Michael A., Parsons, Maddy, McGrath, John A.

“…Epidermal growth factor receptor (EGFR) signaling is fundamentally important for tissue homeostasis through EGFR/ligand interactions that stimulate numerous…”
Get full text

Novel mixed-method, inclusive protocol involving global key stakeholders, including carers as experts, to co-develop relevant Caregiver-Reported Outcome Domains (CRODs) in skin disease by Walsh, Carleen, Leavey, Gerard, Mc Laughlin, Marian, Paller, Amy S, Irvine, Alan D, Browne, Fiona, Mellerio, Jemima E, Bewley, Anthony

“…IntroductionIchthyoses comprise a heterogenous group of rare genetic skin disorders that involves the entire skin surface, often with additional syndromic…”
Get full text

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex by Groves, Richard W., Liu, Lu, Dopping-Hepenstal, Patricia J., Markus, Hugh S., Lovell, Patricia A., Ozoemena, Linda, Lai-Cheong, Joey E., Gawler, Jeffrey, Owaribe, Katsushi, Hashimoto, Takashi, Mellerio, Jemima E., Mee, John B., McGrath, John A.

“…Epidermolysis bullosa (EB) is a group of autosomal dominant and recessive blistering skin diseases in which pathogenic mutations have been reported in 13…”
Get full text

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa by Lwin, Su M, Syed, Farhatullah, Di, Wei-Li, Kadiyirire, Tendai, Liu, Lu, Guy, Alyson, Petrova, Anastasia, Abdul-Wahab, Alya, Reid, Fiona, Phillips, Rachel, Elstad, Maria, Georgiadis, Christos, Aristodemou, Sophia, Lovell, Patricia A, McMillan, James R, Mee, John, Miskinyte, Snaigune, Titeux, Matthias, Ozoemena, Linda, Pramanik, Rashida, Serrano, Sonia, Rowles, Racheal, Maurin, Clarisse, Orrin, Elizabeth, Martinez-Queipo, Magdalena, Rashidghamat, Ellie, Tziotzios, Christos, Onoufriadis, Alexandros, Chen, Mei, Chan, Lucas, Farzaneh, Farzin, Del Rio, Marcela, Tolar, Jakub, Bauer, Johann W, Larcher, Fernando, Antoniou, Michael N, Hovnanian, Alain, Thrasher, Adrian J, Mellerio, Jemima E, Qasim, Waseem, McGrath, John A

“…BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane…”
Get full text

The challenges of clinical trials in rare diseases by Mellerio, Jemima E.

Get full text

Preclinical comparison of proteasome and ubiquitin E1 enzyme inhibitors in cutaneous squamous cell carcinoma: the identification of mechanisms of differential sensitivity by McHugh, Angela, Fernandes, Kenneth, South, Andrew P, Mellerio, Jemima E, Salas-Alanís, Julio C, Proby, Charlotte M, Leigh, Irene M, Saville, Mark K

“…Proteasome inhibitors have distinct properties and the biochemical consequences of suppressing ubiquitin E1 enzymes and the proteasome differ. We compared the…”
Get full text

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification by Fine, Jo-David, MD, MPH, FRCP, Bruckner-Tuderman, Leena, MD, PhD, Eady, Robin A.J., DSc, FRCP, FMedSci, Bauer, Eugene A., MD, Bauer, Johann W., MD, Has, Cristina, MD, Heagerty, Adrian, MD, FRCP, Hintner, Helmut, MD, Hovnanian, Alain, MD, PhD, Jonkman, Marcel F., MD, PhD, Leigh, Irene, CBE, DSc, FRCP, FRSE, FMedSci, Marinkovich, M. Peter, MD, Martinez, Anna E., FRCPCH, McGrath, John A., MD, FRCP, FMedSci, Mellerio, Jemima E., MD, FRCP, Moss, Celia, DM, FRCP, MRCPCH, Murrell, Dedee F., MD, FACD, Shimizu, Hiroshi, MD, PhD, Uitto, Jouni, MD, PhD, Woodley, David, MD, Zambruno, Giovanna, MD

“…Background Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus…”
Get full text

Extracellular Vesicles as Biomarkers for the Detection of a Tumor Marker Gene in Epidermolysis Bullosa-Associated Squamous Cell Carcinoma by Sun, Yuchen, Woess, Katharina, Kienzl, Melanie, Leb-Reichl, Victoria M., Feinle, Andrea, Wimmer, Monika, Zauner, Roland, Wally, Verena, Luetz-Meindl, Ursula, Mellerio, Jemima E., Fuentes, Ignacia, South, Andrew P., Bauer, Johann W., Reichelt, Julia, Furihata, Tomomi, Guttmann-Gruber, Christina, Piñón Hofbauer, Josefina

Get full text

Infection and Colonization in Epidermolysis Bullosa by Mellerio, Jemima E., MD, FRCP

“…In all forms of epidermolysis bullosa (EB), skin fragility may result in bacterial colonization or infection, particularly in the more severe forms where…”
Get full text