Results 101 to 110 of about 307,105 (258)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Advancing Research on Biomaterials and Biological Materials with Scanning Electron Microscopy under Environmental and Low Vacuum Conditions

Advanced Engineering Materials, EarlyView.
Herein, environmental scanning electron microscopy (ESEM) is discussed as a powerful extension of conventional SEM for life sciences. By combining high‐resolution imaging with variable pressure and humidity, ESEM allows the analysis of untreated biological materials, supports in situ monitoring of hydration‐driven changes, and advances the functional ...
Jendrian Riedel, Lea Dierker, Antoine Eyram Kwame, Kim Nora Wagner, Jonas J. Unterholzner, Jan‐Henning Dirks, Dorothea Brüggemann   +6 more
wiley   +1 more source

3D (Bio) Printing Combined Fiber Fabrication Methods for Tissue Engineering Applications: Possibilities and Limitations

Advanced Functional Materials, EarlyView.
Biofabrication aims at providing innovative technologies and tools for the fabrication of tissue‐like constructs for tissue engineering and regenerative medicine applications. By integrating multiple biofabrication technologies, such as 3D (bio) printing with fiber fabrication methods, it would be more realistic to reconstruct native tissue's ...
Waseem Kitana, Indra Apsite, Leonid Ionov   +2 more
wiley   +1 more source

Crouzon Syndrome: Report in a Family [PDF]

Journal of Clinical and Diagnostic Research, 2016
Dhanya S. Kumar, Devaki Murugesan, Kandasamy Murugan, Divya Subramanian, S. Uma Maheshwari   +4 more
doaj   +1 more source

Enhanced effect of fibroblast growth factor-2-containing dalteparin/protamine nanoparticles on hair growth

Clinical, Cosmetic and Investigational Dermatology, 2016
Yuki Takabayashi,1 Masaki Nambu,1 Masayuki Ishihara,2 Masahiro Kuwabara,1 Koichi Fukuda,2 Shingo Nakamura,2 Hidemi Hattori,2Tomoharu Kiyosawa1 1Department of Plastic and Reconstructive Surgery, 2Division of Biomedical ...
Takabayashi Y, Nambu M, Ishihara M, Kuwabara M, Fukuda K, Nakamura S, Hattori H, Kiyosawa T   +7 more
doaj  

Substrate Stress Relaxation Regulates Cell‐Mediated Assembly of Extracellular Matrix

Advanced Functional Materials, EarlyView.
Silicone‐based viscoelastic substrates with tunable stress relaxation reveal how matrix mechanics regulates cellular mechanosensing and cell‐mediated matrix remodelling in the stiff regime. High stress relaxation promotes assembly of fibronectin fibril‐like structures, increased nuclear localization of YAP and formation of β1 integrin‐enriched ...
Jonah L. Voigt, Jens Timmer, Elisabetta Ada Cavalcanti‐Adam   +2 more
wiley   +1 more source

Microporous Microgel Assemblies Facilitating the Recruitment and Osteogenic Differentiation of Progenitor Cells for Bone Regeneration

Advanced Functional Materials, EarlyView.
There is a significant need for biomaterials with well‐defined stability and bioactivity to support tissue regeneration. In this study, we developed a tunable microgel platform that enables the decoupling of stiffness from porosity, thereby promoting bone regeneration.
Silvia Pravato, Haishuo Guan, Bianca M. Carrara, Mira Jacobs, Matteo Monticelli, Lukas Moser, Thomas Moragues, Andrew J. deMello, Tomaso Zambelli, Martin Ehrbar   +9 more
wiley   +1 more source

Smart, Bio‐Inspired Polymers and Bio‐Based Molecules Modified by Zwitterionic Motifs to Design Next‐Generation Materials for Medical Applications

Advanced Functional Materials, EarlyView.
Bio‐based and (semi‐)synthetic zwitterion‐modified novel materials and fully synthetic next‐generation alternatives show the importance of material design for different biomedical applications. The zwitterionic character affects the physiochemical behavior of the material and deepens the understanding of chemical interaction mechanisms within the ...
Theresa M. Lutz, Jonas De Breuck, Sahar Salehi, Meike N. Leiske   +3 more
wiley   +1 more source

Fibroblast Growth Factor 2 [PDF]

, 2020
openaire   +1 more source