Chronogram: an R package for data curation and analysis of infection and vaccination cohort studies.

Autor: Greenwood, David, Shawe-Taylor, Marianne, Townsley, Hermaleigh, Gahir, Joshua, Sahadeo, Nikita, Alhassan, Yakubu, Chaloner, Charlotte, Galgut, Oliver, Kelly, Gavin, Bauer, David L V, Wall, Emma C, Wu, Mary Y, Carr, Edward J

Publikováno v: Bioinformatics Advances; 2024, Vol. 4 Issue 1, p1-4, 4p

Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease

Autor: Vergnano, Marta, Mockenhaupt, Maja, Benzian-Olsson, Natashia, Paulmann, Maren, Grys, Katarzyna, Mahil, Satveer K., Chaloner, Charlotte, Barbosa, Ines A., August, Suzannah, Burden, A. David, Choon, Siew-Eng, Cooper, Hywel, Navarini, Alex A., Reynolds, Nick J., Wahie, Shyamal, Warren, Richard B., Wright, Andrew, Huffmeier, Ulrike, Baum, Patrick, Visvanathan, Sudha, Barker, Jonathan N., Smith, Catherine H., Capon, Francesca, APRICOT and PLUM study team

The identification of disease alleles underlying human autoinflammatory diseases can provide important insights into the mechanisms that maintain neutrophil homeostasis. Here, we focused our attention on generalized pustular psoriasis (GPP), a potent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::b9a48a74c1cfc5df93f9da71d5d9b6ce
https://eprints.gla.ac.uk/224996/1/224996.pdf

Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease

Autor: Abraham, Thamir, Ali, Mahmud, August, Suzannah, Baudry, David, Bewley, Anthony, Cooper, Hywel, Griffiths, Christopher E.M., Ingram, John, Kelly, Susan, Korshid, Mohsen, Ladoyanni, Effie, McKenna, John, Meynell, Freya, Parslew, Richard, Patel, Prakash, Pushparajah, Angela, Reynolds, Nick, Smith, Catherine, Wahie, Shyamal, Warren, Richard, Wright, Andrew, Vergnano, Marta, Mockenhaupt, Maja, Benzian-Olsson, Natashia, Paulmann, Maren, Grys, Katarzyna, Mahil, Satveer K., Chaloner, Charlotte, Barbosa, Ines A., Burden, A. David, Choon, Siew-Eng, Navarini, Alex A., Reynolds, Nick J., Warren, Richard B., Huffmeier, Ulrike, Baum, Patrick, Visvanathan, Sudha, Barker, Jonathan N., Smith, Catherine H., Capon, Francesca

Publikováno v: In The American Journal of Human Genetics 1 April 2021 108(4):757-757

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

Autor: Vergnano M; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., Mockenhaupt M; Department of Dermatology, Medical Centre-University of Freiburg, Freiburg 79106, Germany., Benzian-Olsson N; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., Paulmann M; Department of Dermatology, Medical Centre-University of Freiburg, Freiburg 79106, Germany., Grys K; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., Mahil SK; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., Chaloner C; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., Barbosa IA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., August S; Poole Hospital NHS Foundation Trust, Poole BH15 2JB, UK., Burden AD; Department of Dermatology, University of Glasgow, Glasgow G12 8QQ, UK., Choon SE; Department of Dermatology, Sultanah Aminah Hospital, Clinical School Johor Bahru, Monash University, Malaysia., Cooper H; Portsmouth Dermatology Centre, St Marys Hospital, Portsmouth PO3 6AD, UK., Navarini AA; Department of Dermatology & Allergy, University Hospital of Basel, Basel 4031, Switzerland., Reynolds NJ; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK and Department of Dermatology and NIHR Newcastle Biomedical Research Centre, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4LP, UK., Wahie S; Department of Dermatology, University Hospital of North Durham, Durham DH1 5TW, UK., Warren RB; Dermatology Centre, Salford Royal NHS Foundation Trust, Manchester NIHR Biomedical Research Centre, University of Manchester, Manchester M6 8HD, UK., Wright A; Centre for Skin Sciences, St Lukes Hospital, Bradford BD5 0NA, UK., Huffmeier U; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Baum P; Boehringer-Ingelheim International GmbH, Biberach 88397, Germany., Visvanathan S; Boehringer-Ingelheim Pharmaceuticals, Ridgefield, CT 06877, USA., Barker JN; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., Smith CH; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK., Capon F; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London SE1 9RT, UK. Electronic address: francesca.capon@kcl.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 539-543. Date of Electronic Publication: 2020 Aug 05.