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5 results on '"Maria Molina-Ruiz, A."'

1. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Author

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, and John A. McGrath

Subjects
Science
Abstract

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 which highlights HLA-B*07:02 as a risk factor.

Published
2019
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2. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Author

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., Vano-Galvan, S., Maria Molina-Ruiz, A., Ormaechea Perez, N., 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., and McGrath, J.A.

Abstract

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-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme. Transcriptomic analysis of affected scalp tissue highlights overrepresentation of transcripts encoding components of innate and adaptive immune response pathways. These findings provide insight into disease pathogenesis and characterise FFA as a genetically predisposed immuno-inflammatory disorder driven by HLA-B*07:02.

Published
2019

3. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Author

Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, JR, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, SH, Wood, K, Liu, L, Seegobin, S, Michelotti, GA, Lwin, SM, Christou, EAA, Curtis, CJ, 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, HL, Vano-Galvan, S, Maria Molina-Ruiz, A, Ormaechea Perez, N, Patel, GK, 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, MS, Dlova, NC, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, CM, Flohr, C, Spector, T, Watt, FM, Smith, CH, Barker, JN, Fenton, DA, Simpson, MA, McGrath, JA, Tziotzios, C, Petridis, C, Dand, N, Ainali, C, Saklatvala, JR, Pullabhatla, V, Onoufriadis, A, Pramanik, R, Baudry, D, Lee, SH, Wood, K, Liu, L, Seegobin, S, Michelotti, GA, Lwin, SM, Christou, EAA, Curtis, CJ, 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, HL, Vano-Galvan, S, Maria Molina-Ruiz, A, Ormaechea Perez, N, Patel, GK, 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, MS, Dlova, NC, Setterfield, J, Lewis, F, Bhargava, K, Kirkpatrick, N, Estivill, X, Stefanato, CM, Flohr, C, Spector, T, Watt, FM, Smith, CH, Barker, JN, Fenton, DA, Simpson, MA, and McGrath, JA

Abstract

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-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme. Transcriptomic analysis of affected scalp tissue highlights overrepresentation of transcripts encoding components of innate and adaptive immune response pathways. These findings provide insight into disease pathogenesis and characterise FFA as a genetically predisposed immuno-inflammatory disorder driven by HLA-B*07:02.

Published
2019

4. Cutaneous epithelioid hemangioendothelioma on the sole of a child

Author

Carmen Carranza-Romero, Ana Maria Molina-Ruiz, Luis Requena, Jesús Cuevas Santos, and Cristian Perna Monroy

Subjects
Male, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Foot, Biopsy, Soft tissue, Dermatology, Malignant Vascular Tumor, Malignant Vascular Neoplasm, medicine.disease, Immunohistochemistry, Hemangioendothelioma, Diagnosis, Differential, Lymphatic system, Pediatrics, Perinatology and Child Health, Medicine, Hemangioendothelioma, Epithelioid, Humans, business, Child, Epithelioid hemangioendothelioma
Abstract

Epithelioid hemangioendothelioma (EHE) has been considered to be a low-grade malignant vascular neoplasm, although follow-up of recent series has demonstrated that EHE involving the skin and soft tissues should be better regarded as a fully malignant vascular tumor since it has more metastatic potential than previously thought. We report a case of an EHE involving the left sole of 6-year-old boy, the youngest patient with cutaneous EHE described to date. Immunohistochemical studies demonstrated a lymphatic endothelial line of differentiation for neoplastic cells. Cutaneous EHE is rare in childhood, with only five previously described cases.

Published
2015

5. Calidad de vida en pacientes tratados por un cáncer de laringe inicial y en personas sanas y con otras patologías

Author

E. Gómez Gracia, Maria J Fernández-Crehuet Serrano, J. Caballero villarraso, J Maria Molina Ruiz del Portal, M. Gutiérrez bedmar, and J. Fernández-Crehuet Navajas

Subjects
Gynecology, medicine.medical_specialty, Otorhinolaryngology, Quality of life, Glottic cancer, business.industry, Healthy population, medicine, Cancer, Treatment options, business, medicine.disease, Surgery
Abstract

Nowadays there are different non aggressive treatment options for early laryngeal cancer. However, they are not free of undesirable effects. We have studied this patients' quality of life, by comparing it with that obtained from healthy population and other illness groups (post-AMI patients, Chronic Kidney patients). We have studied 62 T1-T2NoMo laryngeal carcinoma diagnosed at the "Virgen de la Victoria" clinical hospital from Malaga, Spain, between 1990 and 1998. We used the Quality of Life in Malaga (QLM), general QL questionnaire which was developed and validated at the Department of Preventive Medicine of the University of Malaga, Spain. The results were compared with those obtained from ramdom samples in healthy population from Malaga and from various pathology groups. The global QOL of our patients treated for an early glottic cancer (Index Quality of life 29.4%) was better than almost all the other ones.

Published
2004

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