Zobrazeno 1 - 10
of 1 554
pro vyhledávání: '"John A, McGrath"'
Autor:
Yi-Kai Hong, Yu-Chen Lin, Tsung-Lin Cheng, Chao-Han Lai, Yi-Han Chang, Yu-Lun Huang, Chia-Yi Hung, Chen-Han Wu, Kuo-Shu Hung, Ya-Chu Ku, Yen-Ting Ho, Ming-Jer Tang, Shu-Wha Lin, Guey-Yueh Shi, John A. McGrath, Hua-Lin Wu, Chao-Kai Hsu
Publikováno v:
Journal of Biomedical Science, Vol 31, Iss 1, Pp 1-25 (2024)
Abstract Background Pathologic scars, including keloids and hypertrophic scars, represent a common form of exaggerated cutaneous scarring that is difficult to prevent or treat effectively. Additionally, the pathobiology of pathologic scars remains po
Externí odkaz:
https://doaj.org/article/0668ee67d3c444a6ab6d5c3bd3c22df6
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-24 (2023)
Abstract Background Alternative splicing (AS) plays a crucial role in transcriptomic diversity and is a hallmark of cancer that profoundly influences the development and progression of prostate cancer (PCa), a prevalent and potentially life-limiting
Externí odkaz:
https://doaj.org/article/a018ef0f11b7414cb1688e0006461cf1
Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study
Autor:
Jemima E. Mellerio, Elizabeth I. Pillay, Lesedi Ledwaba-Chapman, Alessandra Bisquera, Susan J. Robertson, Marieta Papanikolaou, John A. McGrath, Yanzhong Wang, Anna E. Martinez, Eunice Jeffs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic EB (RDEB) subtypes. Objectives As part of a prospective register study of the natural hist
Externí odkaz:
https://doaj.org/article/fffd1c42edb4449fa70ef4bb51e829bf
Autor:
Wei-Ting Tu, Ping-Chen Hou, Peng-Chieh Chen, Wan-Rung Chen, Hsin-Yu Huang, Jing-Yu Wang, Yi-Ting Huang, Yi-Huei Wu, Chun-Lin Su, Yen-An Tang, Hiroaki Iwata, Ken Natsuga, Sheau-Chiou Chao, H. Sunny Sun, Ming-Jer Tang, Julia Yu-Yun Lee, John A. McGrath, Chao-Kai Hsu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese population remain scarce. Methods We gathered clinical information from EB patients at Nati
Externí odkaz:
https://doaj.org/article/0cb4dd617c1d453a9b25ad879496557a
Autor:
Adam Sheriff, Ina Guri, Paulina Zebrowska, Virginia Llopis-Hernandez, Imogen R. Brooks, Stavroula Tekkela, Kavita Subramaniam, Ruta Gebrezgabher, Gaetano Naso, Anastasia Petrova, Katarzyna Balon, Alexandros Onoufriadis, Dorota Kujawa, Martyna Kotulska, Gregory Newby, Łukasz Łaczmański, David R. Liu, John A. McGrath, Joanna Jacków
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-16 (2022)
Abstract Base editing introduces precise single-nucleotide edits in genomic DNA and has the potential to treat genetic diseases such as the blistering skin disease recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by mutations
Externí odkaz:
https://doaj.org/article/03e319002a21459e8249bcc2341dc40e
Autor:
Sanne Grundvad Boelt, Oleguer Plana-Ripoll, Clara Albiñana, Bjarni Vilhjálmsson, John J. McGrath, Arieh S. Cohen
Publikováno v:
BMC Research Notes, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Objective We developed an assay to measure the concentration of 25 hydroxyvitamin D2 and D3 in protein extracts derived from stored neonatal dried blood spots. During this study, we postulated that these samples had been contaminated with ex
Externí odkaz:
https://doaj.org/article/fa2f5198545d476cb3c350d621f68e77
Autor:
Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto, Amir Hossein Saeidian, Rana Samii, Elnaz Kalamati, Ali Reza Tavasoli, Zahra Saffarian, John A. McGrath, Soheila Sotoudeh
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100394- (2023)
Externí odkaz:
https://doaj.org/article/5078f96175b74cb19fbe3a91056b0cad
Autor:
Oleguer Plana-Ripoll, Julie W. Dreier, Natalie C. Momen, Anders Prior, Nanna Weye, Preben Bo Mortensen, Carsten B. Pedersen, Kim Moesgaard Iburg, Maria Klitgaard Christensen, Thomas Munk Laursen, Esben Agerbo, Marianne G. Pedersen, Jørgen Brandt, Lise Marie Frohn, Camilla Geels, Jesper H. Christensen, John J. McGrath
Publikováno v:
PLoS Medicine, Vol 19, Iss 6 (2022)
Background The provision of different types of mortality metrics (e.g., mortality rate ratios [MRRs] and life expectancy) allows the research community to access a more informative set of health metrics. The aim of this study was to provide a panel o
Externí odkaz:
https://doaj.org/article/b8fdf521588448e5a8bd9736dc2d820d
Autor:
Hassan Vahidnezhad, Leila Youssefian, Masoomeh Faghankhani, Nikoo Mozafari, Amir Hossein Saeidian, Fatemeh Niaziorimi, Fahimeh Abdollahimajd, Soheila Sotoudeh, Fateme Rajabi, Liaosadat Mirsafaei, Zahra Alizadeh Sani, Lu Liu, Alyson Guy, Sirous Zeinali, Ariana Kariminejad, Reginald T. Ho, John A. McGrath, Jouni Uitto
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype–phenotype correlations regarding the penetrance of cardiac involvement, and age of o
Externí odkaz:
https://doaj.org/article/ab057a9d7d3946ec9f202a73bd59378c
Autor:
Dimitra Kiritsi, Kathrin Dieter, Elke Niebergall-Roth, Silvia Fluhr, Cristina Daniele, Jasmina Esterlechner, Samar Sadeghi, Seda Ballikaya, Leoni Erdinger, Franziska Schauer, Stella Gewert, Martin Laimer, Johann W. Bauer, Alain Hovnanian, Giovanna Zambruno, May El Hachem, Emmanuelle Bourrat, Maria Papanikolaou, Gabriela Petrof, Sophie Kitzmüller, Christen L. Ebens, Markus H. Frank, Natasha Y. Frank, Christoph Ganss, Anna E. Martinez, John A. McGrath, Jakub Tolar, Mark A. Kluth
Publikováno v:
JCI Insight, Vol 6, Iss 22 (2021)
BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating, and life-threatening inherited skin fragility disorder that comes about due to a lack of functional type VII collagen, for which no effective therapy exists. ABCB5+
Externí odkaz:
https://doaj.org/article/b73355f8e6714783859f9acfbd51109d