Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Rashida Pramanik"'
Autor:
Christos Tziotzios, Christos Petridis, Nick Dand, Chrysanthi Ainali, Jake R. Saklatvala, Venu Pullabhatla, Alexandros Onoufriadis, Rashida Pramanik, David Baudry, Sang Hyuck Lee, Kristie Wood, Lu Liu, Seth Seegobin, Gregory A. Michelotti, Su M. Lwin, Evangelos A. A. Christou, Charles J. Curtis, Emanuele de Rinaldis, Alka Saxena, Susan Holmes, Matthew Harries, Ioulios Palamaras, Fiona Cunningham, Gregory Parkins, Manjit Kaur, Paul Farrant, Andrew McDonagh, Andrew Messenger, Jennifer Jones, Victoria Jolliffe, Iaisha Ali, Michael Ardern-Jones, Charles Mitchell, Nigel Burrows, Ravinder Atkar, Cedric Banfield, Anton Alexandroff, Caroline Champagne, Hywel L. Cooper, Sergio Vañó-Galván, Ana Maria Molina-Ruiz, Nerea Ormaechea Perez, Girish K. Patel, Abby Macbeth, Melanie Page, Alyson Bryden, Megan Mowbray, Shyamal Wahie, Keith Armstrong, Nicola Cooke, Mark Goodfield, Irene Man, David de Berker, Giles Dunnill, Anita Takwale, Archana Rao, Tee-Wei Siah, Rodney Sinclair, Martin S. Wade, Ncoza C. Dlova, Jane Setterfield, Fiona Lewis, Kapil Bhargava, Niall Kirkpatrick, Xavier Estivill, Catherine M. Stefanato, Carsten Flohr, Timothy Spector, Fiona M. Watt, Catherine H. Smith, Jonathan N. Barker, David A. Fenton, Michael A. Simpson, John A. McGrath
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Frontal fibrosing alopecia (FFA) features lichenoid cutaneous inflammation and scarring hair loss. Here, Tziotzios et al. identify four genetic loci associated with FFA by GWAS followed by Bayesian fine-mapping, co-localisation and HLA imputation whi
Externí odkaz:
https://doaj.org/article/2a42af5d272646528b4002af71d71088
Autor:
Daphna Weissglas-Volkov, Ofer Sarig, J. Mohamad, Alon Peled, Eli Sprecher, N. Malchin, Noam Shomron, Kiril Malovitski, M. Pavlovsky, John A. McGrath, Rashida Pramanik, Arti Nanda
Publikováno v:
Experimental Dermatology. 29:742-748
Autosomal recessive congenital ichthyosis (ARCI) manifests with generalized scaling often associated with generalized erythema. Mutations in at least 13 different genes have been reported to cause ARCI. Acral peeling skin syndrome (APSS) is a rare au
Autor:
Alexandros Onoufriadis, Eman Rabie, Frank Po-Chao Chiu, Hagar Nofal, Rania Alakad, Ahmad Alabdulkareem, Rashida Pramanik, Ahmad Nofal, Thithiwat Chaikul
Publikováno v:
Dermatologic therapyREFERENCES. 34(5)
H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearing loss, heart anomalies, low height, hypogonadism and hepatosplenomegaly. H syndrome results from loss-of-function mutations
Autor:
Paul Farrant, Mark Goodfield, Catherine H. Smith, V. Jolliffe, Gregory Parkins, Caroline Champagne, Lu Liu, Nigel Burrows, A. S. Bryden, Kristie Wood, Anton B. Alexandroff, Irene Man, Alka Saxena, Su M. Lwin, Iaisha Ali, Catherine M. Stefanato, Kapil Bhargava, Sang Hyuck Lee, Melanie Page, Xavier Estivill, Tim D. Spector, Carsten Flohr, Susan Holmes, David de Berker, A. E. Macbeth, Ncoza C. Dlova, David Baudry, Jake Saklatvala, Nerea Ormaechea Perez, Archana Rao, David A. Fenton, Martin S Wade, Cedric Charles Banfield, Jennifer Jones, Evangelos A A Christou, Ravinder Atkar, Gregory A Michelotti, Sergio Vano-Galvan, Seth D. Seegobin, Jane Setterfield, Jonathan Barker, Chrysanthi Ainali, Christos Tziotzios, Charles Curtis, Rashida Pramanik, Matthew Harries, Girish K Patel, Niall Kirkpatrick, Venu Pullabhatla, Fiona Cunningham, Nick Dand, Hywel L Cooper, Rodney Sinclair, Keith Armstrong, Emanuele de Rinaldis, Andrew J. G. McDonagh, M R Kaur, Fiona Lewis, Michael A. Simpson, John A. McGrath, Charles E. Mitchell, Nicola Cooke, Fiona M. Watt, Alexandros Onoufriadis, Michael R. Ardern-Jones, Tee-Wei Siah, Ioulios Palamaras, Ana María Molina-Ruiz, Megan Mowbray, A. Takwale, Andrew G. Messenger, Giles Dunnill, Christos Petridis, Shyamal Wahie
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Nature Communications
Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, J R, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, S H, Wood, K, Liu, L, Seegobin, S, Michelotti, G A, Lwin, S M, Christou, E A A, Curtis, C J, de Rinaldis, E, Saxena, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, H L, Vañó-Galván, S, Molina-Ruiz, A M, Perez, N O, Patel, G K, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnill, G, Takwale, A, Rao, A, Siah, T-W, Sinclair, R, Wade, M S, Dlova, N C, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, C M, Flohr, C, Spector, T, Watt, F M, Smith, C H, Barker, J N, Fenton, D A, Simpson, M A & McGrath, J A 2019, ' Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 ', Nature Communications, vol. 10, no. 1, 1150 . https://doi.org/10.1038/s41467-019-09117-w
Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, J R, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, S H, Wood, K, Liu, L, Seegobin, S, Michelotti, G A, Lwin, S M, Christou, E A A, Curtis, C J, de Rinaldis, E, Saxena, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, H L, Vañó-Galván, S, Molina-Ruiz, A M, Perez, N O, Patel, G K, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnill, G, Takwale, A, Rao, A, Siah, T W, Sinclair, R, Wade, M S, Dlova, N C, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, C M, Flohr, C, Spector, T, Watt, F M, Smith, C H, Barker, J N, Fenton, D A, Simpson, M A & McGrath, J A 2019, ' Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 ', Nature Communications, vol. 10, no. 1, 1150 . https://doi.org/10.1038/s41467-019-09117-w
Nature Communications
Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, J R, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, S H, Wood, K, Liu, L, Seegobin, S, Michelotti, G A, Lwin, S M, Christou, E A A, Curtis, C J, de Rinaldis, E, Saxena, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, H L, Vañó-Galván, S, Molina-Ruiz, A M, Perez, N O, Patel, G K, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnill, G, Takwale, A, Rao, A, Siah, T-W, Sinclair, R, Wade, M S, Dlova, N C, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, C M, Flohr, C, Spector, T, Watt, F M, Smith, C H, Barker, J N, Fenton, D A, Simpson, M A & McGrath, J A 2019, ' Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 ', Nature Communications, vol. 10, no. 1, 1150 . https://doi.org/10.1038/s41467-019-09117-w
Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, J R, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, S H, Wood, K, Liu, L, Seegobin, S, Michelotti, G A, Lwin, S M, Christou, E A A, Curtis, C J, de Rinaldis, E, Saxena, A, Holmes, S, Harries, M, Palamaras, I, Cunningham, F, Parkins, G, Kaur, M, Farrant, P, McDonagh, A, Messenger, A, Jones, J, Jolliffe, V, Ali, I, Ardern-Jones, M, Mitchell, C, Burrows, N, Atkar, R, Banfield, C, Alexandroff, A, Champagne, C, Cooper, H L, Vañó-Galván, S, Molina-Ruiz, A M, Perez, N O, Patel, G K, Macbeth, A, Page, M, Bryden, A, Mowbray, M, Wahie, S, Armstrong, K, Cooke, N, Goodfield, M, Man, I, de Berker, D, Dunnill, G, Takwale, A, Rao, A, Siah, T W, Sinclair, R, Wade, M S, Dlova, N C, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, C M, Flohr, C, Spector, T, Watt, F M, Smith, C H, Barker, J N, Fenton, D A, Simpson, M A & McGrath, J A 2019, ' Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 ', Nature Communications, vol. 10, no. 1, 1150 . https://doi.org/10.1038/s41467-019-09117-w
Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome
Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH
Autor:
Lu Liu, Alexandros Onoufriadis, Adane Ayele, Kidist Y Dagnewu, Esubalewu Abebe, Rashida Pramanik, John A. McGrath
Publikováno v:
International Journal of Dermatology. 59
Autor:
Emanuele de Rinaldis, Dusko Ilic, Magdalena Martinez-Queipo, Sabrina Zeddies, Alka Saxena, Ineke Slaper-Cortenbach, Sophia Aristodemou, Lu Liu, Su M. Lwin, James R. McMillan, Anna E. Martinez, Chrysanthi Ainali, John A. McGrath, Kasper Westinga, Gabriela Petrof, Alyson Guy, Marcel P. H. van den Broek, Rashida Pramanik, Francesco Dazzi, Venu Pullabhatla, Rosamund Nuamah, Linda Ozoemena, Salma Ayis, John B. Mee, Sonia Serrano, Clarisse Maurin, Jemima E. Mellerio, Ellie Rashidghamat, Alexandros Onoufriadis, Tendai Kadiyirire
Publikováno v:
Journal of the American Academy of Dermatology. 83(2)
Background Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to a lack of type VII collagen. At present, treatment is mainly supportive. Objectives To determine whether intravenous allogeneic bone marrow–deri
Autor:
Michael Antoniou, Sophia Aristodemou, Alain Hovnanian, Christos Georgiadis, Mei Chen, Su M. Lwin, M. Titeux, S. Miskinyte, Rashida Pramanik, Waseem Qasim, Lucas Chan, Rachel Phillips, Jakub Tolar, Wei Li Di, John A. McGrath, Adrian J. Thrasher, Christos Tziotzios, Linda Ozoemena, Alyson Guy, Alya Abdul-Wahab, Fiona Reid, James R. McMillan, Magdalena Martinez-Queipo, Lu Liu, Fernando Larcher, Jemima E. Mellerio, Johann W. Bauer, Patricia A. Lovell, Marcela Del Rio, Sonia Serrano, Clarisse Maurin, Anastasia Petrova, Farhatullah Syed, Alexandros Onoufriadis, Tendai Kadiyirire, Ellie Rashidghamat, Maria Elstad, Racheal Rowles, Farzin Farzaneh, John B. Mee, Elizabeth Orrin
BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent of anchoring fibrils (AFs) in skin. We develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3df16e09632564610c72d70991aa6380
http://hdl.handle.net/10044/1/74451
http://hdl.handle.net/10044/1/74451
Publikováno v:
British Journal of Dermatology. 174:209-211
Publikováno v:
Oral Diseases. 17:109-114
Oral Diseases (2010) 17, 109–114 Background: Mucosal wetness (MW) reflects the layer of residual saliva that covers the oral mucosal surfaces. Objectives: The aim of this study was to determine MW at different oral mucosa sites and to investigate t
Publikováno v:
European Journal of Oral Sciences. 118:245-253
Oral homeostasis depends largely on proteins and mucins present in saliva that coat all oral surfaces. The present study compared the protein composition of residual fluid on mucosal surfaces in subjects with normal salivary flow with that of patient