Zobrazeno 1 - 10
of 656
pro vyhledávání: '"Timothy A. Cox"'
Autor:
Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)
Abstract Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters of
Externí odkaz:
https://doaj.org/article/d8bfbb8f7d514cd7a8d154657d67b4ca
Autor:
Simona D’Amore, Kenneth Eric Poole, Uma Ramaswami, Derralynn Hughes, Kathleen Page, Antonio Giovanni Solimando, Angelo Vacca, Timothy Martin Cox, Patrick Deegan
Publikováno v:
Metabolites, Vol 14, Iss 11, p 601 (2024)
Background/Objectives: Patients with Gaucher disease have a high risk of bone disease, with osteonecrosis representing the most debilitating complication. The pathogenesis of osteonecrosis has not been fully elucidated yet, and there is an unmet need
Externí odkaz:
https://doaj.org/article/1c5320cc03cc40789d85e22213dd1f19
Autor:
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures deri
Externí odkaz:
https://doaj.org/article/1d57089cec0e40f9ac05f0b75d18ed43
Autor:
Mingli Fang, Ao Zhang, Yong Du, Wenting Lu, Junying Wang, Laurie J. Minze, Timothy C. Cox, Xian Chang Li, Junji Xing, Zhiqiang Zhang
Publikováno v:
Journal of Biomedical Science, Vol 29, Iss 1, Pp 1-20 (2022)
Abstract Background Infections by viruses including severe acute respiratory syndrome coronavirus 2 could cause organ inflammations such as myocarditis, pneumonia and encephalitis. Innate immunity to viral nucleic acids mediates antiviral immunity as
Externí odkaz:
https://doaj.org/article/82994d7153f24275860532824be4a797
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract The interaction between the metabolic activities of the intestinal microbiome and its host forms an important part of health. The basis of this interaction is in part mediated by the release of microbially-derived metabolites that enter the
Externí odkaz:
https://doaj.org/article/2e354b69d1e54a8290675574f1a72e4e
Autor:
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited def
Externí odkaz:
https://doaj.org/article/87856b3cd87144b293aea32047560137
Autor:
Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, the MRC GAUCHERITE Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Abstract Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and impro
Externí odkaz:
https://doaj.org/article/2d16bd7af15d425fa25f19e95c76a8ad
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/06b1275a9a1c4a6dbb09121d7b6f2ceb
Autor:
Stanley M. Kanai, Caleb Heffner, Timothy C. Cox, Michael L. Cunningham, Francisco A. Perez, Aaron M. Bauer, Philip Reigan, Cristan Carter, Stephen A. Murray, David E. Clouthier
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 4 (2022)
Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked to multiple genetic variants in the coding sequence of phospholipase C β4 (PLCB4). PLCB4 is a direct signaling effector of the endothelin rec
Externí odkaz:
https://doaj.org/article/1018cf0b961340698266dbc93ce8cfff
Autor:
Piranit Nik Kantaputra, Peeranat Jatooratthawichot, Ploy Adisornkanj, Panita Kitsadayurach, Massupa Kaewgahya, Bjorn Olsen, Atsushi Ohazama, Chumpol Ngamphiw, Sissades Tongsima, Timothy C. Cox, James R. Ketudat Cairns
Publikováno v:
Biology, Vol 12, Iss 2, p 220 (2023)
Background: Low density lipoprotein receptor-related protein 4 (LRP4; MIM 604270) modulates WNT/β-catenin signaling, through its binding of WNT ligands, and to co-receptors LRP5/6, and WNT inhibitors DKK1, SOSTDC1, and SOST. LRP4 binds to SOSTDC1 an
Externí odkaz:
https://doaj.org/article/a12550c94e7143ec94c16309622f5817