Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Jumana Al-Aama"'
Autor:
Marzena Kurzawa‐Akanbi, Phillip Whitfield, Florence Burté, Pietro Maria Bertelli, Varun Pathak, Mary Doherty, Birthe Hilgen, Lina Gliaudelytė, Mark Platt, Rachel Queen, Jonathan Coxhead, Andrew Porter, Maria Öberg, Daniela Fabrikova, Tracey Davey, Chia Shyan Beh, Maria Georgiou, Joseph Collin, Veronika Boczonadi, Anetta Härtlova, Michael Taggart, Jumana Al‐Aama, Viktor I Korolchuk, Christopher M Morris, Jasenka Guduric‐Fuchs, David H Steel, Reinhold J Medina, Lyle Armstrong, Majlinda Lako
Publikováno v:
Journal of Extracellular Vesicles, Vol 11, Iss 12, Pp n/a-n/a (2022)
Abstract Age‐related macular degeneration (AMD) is a leading cause of blindness. Vision loss is caused by the retinal pigment epithelium (RPE) and photoreceptors atrophy and/or retinal and choroidal angiogenesis. Here we use AMD patient‐specific
Externí odkaz:
https://doaj.org/article/1398b9e7c68548ba80b5a5b5d9c80bee
Autor:
Khadijah Bakur, Jumana Al-Aama, Zuhair Alhassnan, Helen Brooks, Tara Clancy, Saud Takroni, Fiona Ulph
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 2, Pp 60-70 (2020)
Background: Religion/spirituality plays a vital role in most aspects of Muslims' lives. However, there has been little research on the part of religion/spirituality in health professionals' clinical experience with patients with genetic disorders, in
Externí odkaz:
https://doaj.org/article/78a98e74b24d4e64b4d94cebee785292
Autor:
Maria Georgiou, Chunbo Yang, Robert Atkinson, Kuan‐Ting Pan, Adriana Buskin, Marina Moya Molina, Joseph Collin, Jumana Al‐Aama, Franziska Goertler, Sebastian E. J. Ludwig, Tracey Davey, Reinhard Lührmann, Sushma Nagaraja‐Grellscheid, Colin A. Johnson, Robin Ali, Lyle Armstrong, Viktor Korolchuk, Henning Urlaub, Sina Mozaffari‐Jovin, Majlinda Lako
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 3, Pp n/a-n/a (2022)
Abstract Introduction Mutations in pre‐mRNA processing factor 31 (PRPF31), a core protein of the spliceosomal tri‐snRNP complex, cause autosomal‐dominant retinitis pigmentosa (adRP). It has remained an enigma why mutations in ubiquitously expre
Externí odkaz:
https://doaj.org/article/d0deada325104e39a8d523ef7fabc4d6
Autor:
Chunbo Yang, Maria Georgiou, Robert Atkinson, Joseph Collin, Jumana Al-Aama, Sushma Nagaraja-Grellscheid, Colin Johnson, Robin Ali, Lyle Armstrong, Sina Mozaffari-Jovin, Majlinda Lako
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Retinitis pigmentosa (RP) is the most common inherited retinal disease characterized by progressive degeneration of photoreceptors and/or retinal pigment epithelium that eventually results in blindness. Mutations in pre-mRNA processing factors (PRPF3
Externí odkaz:
https://doaj.org/article/f68e9ad4e4a948848fba0445af61964a
Autor:
Jumana Al-Aama, Hadiah B. Al Mahdi, Mohammed A. Salama, Khadija Bakur, Amani Alhozali, Hala Mosli, Suhad M. Bahijri, Ahmed Bahieldin, Ramu Elango, Lothar Willmitzer, Sherif Edris
Publikováno v:
Biotechnology & Biotechnological Equipment, Vol 33, Iss 1, Pp 1319-1326 (2019)
A large-scale DNA-based assay, namely SNaPshot, was developed and validated for the determination of allelic polymorphisms of genes associated with type II diabetes (T2D) mellitus disease in Saudi patients. The new approach is alternative to phenotyp
Externí odkaz:
https://doaj.org/article/2cc9c14f93824a289c432b779f092d19
Autor:
Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Kuan-Ting Pan, Achim Treumann, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Simon Zwolinski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F. Inglehearn, David J. Elliott, Susan Lindsay, Robin R. Ali, David H. Steel, Lyle Armstrong, Evelyne Sernagor, Henning Urlaub, Eric Pierce, Reinhard Lührmann, Sushma-Nagaraja Grellscheid, Colin A. Johnson, Majlinda Lako
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)
Mutations in pre-mRNA processing factors cause autosomal dominant retinitis pigmentosa. Here the authors provide insights into the pathophysiological mechanisms underlying non-syndromic retinal disease caused by heterozygous mutations in genes encodi
Externí odkaz:
https://doaj.org/article/39722a7de98941cab07e48fc0b8400de
Autor:
Agata Rozanska, Rodrigo Cerna-Chavez, Rachel Queen, Joseph Collin, Darin Zerti, Birthe Dorgau, Chia Shyan Beh, Tracey Davey, Jonathan Coxhead, Rafiqul Hussain, Jumana Al-Aama, David H Steel, Nissim Benvenisty, Lyle Armstrong, Manoj Parulekar, Majlinda Lako
Publikováno v:
Stem cells translational medicine. 11(4)
Retinoblastoma (Rb) is a childhood cancer of the developing retina, accounting for up to 17% of all tumors in infancy. To gain insights into the transcriptional events of cell state transitions during Rb development, we established 2 disease models v
Autor:
Majed, Felemban, Birthe, Dorgau, Nicola Claire, Hunt, Dean, Hallam, Darin, Zerti, Roman, Bauer, Yuchun, Ding, Joseph, Collin, David, Steel, Natalio, Krasnogor, Jumana, Al-Aama, Susan, Lindsay, Carla, Mellough, Majlinda, Lako
Publikováno v:
Acta biomaterialia. 74
The extracellular matrix (ECM) plays an important role in numerous processes including cellular proliferation, differentiation, migration, maturation, adhesion guidance and axonal growth. To date, there has been no detailed analysis of the ECM distri
Autor:
Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari-Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael Farkas, Gerrit Hilgen, Kathryn White, Dean Hallam, Katarzyna Bialas, Git Chung, Carla Mellough, Yuchun Ding, Natalio Krasnogor, Stefan Przyborski, Jumana Al-Aama, Sameer Alharthi, Yaobo Xu, Gabrielle Wheway, Katarzyna Szymanska, Martin McKibbin, Chris F Inglehearn, David J Elliott, Susan Lindsay, Robin R Ali, David H Steel, Lyle Armstrong, Evelyne Sernagor, Eric Pierce, Reinhard Lüehrmann, Sushma-Nagaraja Grellscheid, Colin A Johnson, Majlinda Lako
SummaryMutations in pre-mRNA processing factors (PRPFs) cause 40% of autosomal dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed PRPFs cause retinal disease. To understand the molecular basis of this phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3576fd9a8e320b379f3a6a5616bf33
Publikováno v:
Journal of Pediatric Genetics. :e1-e1