Zobrazeno 1 - 10
of 42
pro vyhledávání: '"James Dowling"'
Publikováno v:
Ecology and Evolution, Vol 14, Iss 7, Pp n/a-n/a (2024)
Abstract Frozen water bodies provide a physiological challenge to fauna by physically limiting access to atmospheric oxygen. To tolerate low temperatures, reptiles use brumation as a physiological strategy in winter. Cryptodira vary in their toleranc
Externí odkaz:
https://doaj.org/article/2a6ef510e3f641959ba1fde5390a77d9
Autor:
David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101068- (2024)
Externí odkaz:
https://doaj.org/article/da13f9ba7b74444b8558dcca41060f10
Autor:
Kathleen Bell, Raymond Kim, Aaron Pollett, Wilson Yu, Syed Ahmed, Muna Aden, Rae Brager, June Carroll, Melissa Carter, Dervla Connaughton, James Dowling, Angela Du, Hanna Faghfoury, Harriet Feilotter, Elaine Goh, Andrea Guerin, Jennifer Hart, Ivy Haw, Rachel Healey, Richard Kim, Goran Klaric, Kaitlyn Lemay, Jerom Nguyen, Luis Peña, Erin Redwood, Julie Richer, Mary Schmitz, Julia Su, Frank Telfer
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101440- (2024)
Externí odkaz:
https://doaj.org/article/60d081e526cd46cea4159f6e77ba78db
Autor:
Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
Externí odkaz:
https://doaj.org/article/e75223815948439e9477ffcd46c3405b
Autor:
Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds, Annemieke Aartsma-Rus, James Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Muscular dystrophies (MDs) encompass a wide variety of inherited disorders that are characterized by loss of muscle tissue associated with a progressive reduction in muscle function. With a cure lacking for MDs, preclinical developments of therapeuti
Externí odkaz:
https://doaj.org/article/be4ae17280f34ef1b25bb64a7e091428
Autor:
Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Peripheral neuropathy (PN) is a complication of prediabetes and type 2 diabetes (T2D). Increasing evidence suggests that factors besides hyperglycaemia contribute to PN development, including dyslipidaemia. The objective of this study was to determin
Externí odkaz:
https://doaj.org/article/a851f0c85a1f46e2807311fb54f9c5f8
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
For many genetic diseases, researchers are developing personalized medicine approaches. These sometimes employ custom genetic interventions such as antisense-mediated exon skipping or genome editing, aiming to restore protein function in a mutation-s
Externí odkaz:
https://doaj.org/article/9a55427efd994412af34cf2720b2636b
Autor:
Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generat
Externí odkaz:
https://doaj.org/article/96cf025b67e84cd9944cad361424728a
Autor:
Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
The muscular dystrophy X-linked (mdx) mouse is commonly used as a mouse model of Duchenne muscular dystrophy (DMD). Its phenotype is, however, mild, and other mouse models have been explored. The mdx:Cmah−/− mouse carries a human-like mutation in
Externí odkaz:
https://doaj.org/article/115a85de5287469e82f3c757ce592baf
Autor:
Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Clinical trials for rare neuromuscular diseases imply, among other investments, a high emotional burden for the whole disease community. Translation of data from preclinical studies to justify any clinical trial must be carefully pondered in order to
Externí odkaz:
https://doaj.org/article/b12642a503f140a6ae7c7f73aad1b650