Results 41 to 50 of about 21,286 (221)

Natural variation in a glucuronosyltransferase modulates propionate sensitivity in a C. elegans propionic acidemia model.

PLoS Genetics, 2020
Mutations in human metabolic genes can lead to rare diseases known as inborn errors of human metabolism. For instance, patients with loss-of-function mutations in either subunit of propionyl-CoA carboxylase suffer from propionic acidemia because they ...
Huimin Na, Stefan Zdraljevic, Robyn E Tanny, Albertha J M Walhout, Erik C Andersen   +4 more
doaj   +1 more source

Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction

Advanced Functional Materials, EarlyView.
Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch, Sandra Kessler, Simone Ponta, Anna Puiggalí‐Jou, Guoliang Lyu, Killian Flégeau, Anastasiya Martyts, Florian Roth, David Fercher, Filippo M. Rijli, Daniel Simmen, Eva Novoa Olivares, Thomas Linder, Marcy Zenobi‐Wong   +13 more
wiley   +1 more source

Underlying IPEX syndrome in a patient with idiopathic juvenile arthritis and vitiligo

Allergy, Asthma & Clinical Immunology, 2022
Background IPEX syndrome is an X-linked inborn error of immunity clinically characterized by the triad of: enteropathy, polyendocrinopathy and eczema.
Leonardo Oliveira Mendonça, Adriana Pitchon dos Reis Chuster, Mayra Barros Dorna, Samar Freschi Barros, Janaina Baptista Alves, Victor Lucas Gonçalves, Ariana Campos Yang, Jorge Kalil, Myrthes Anna Maragna Toledo-Barros, Cristina Maria Kokron   +9 more
doaj   +1 more source

Microphysiological Systems of Lymphatics and Immune Organs

Advanced Healthcare Materials, EarlyView.
This review surveys recent progress in engineering lymphatic microenvironments and immune organoids within microphysiological systems, emphasizing innovative strategies to recreate the biochemical and biophysical complexity of native lymphatic tissues.
Ishita Jain, Ankur Singh, Andrés J. García   +2 more
wiley   +1 more source

Is adermatoglyphia an additional feature of Kindler Syndrome? [PDF]

Anais Brasileiros de Dermatologia, 2015
A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired ...
Hiram Larangeira de Almeida Jr, Fernanda Mendes Goetze, Kenneth Fong, Joey Lai-Cheong, John McGrath   +4 more
doaj   +2 more sources

Kidney Organoids in Drug Development: Integrating Technological Advances and Standardization for Effective Implementation

Advanced Healthcare Materials, EarlyView.
This review examines how emerging enabling technologies enhance the physiological relevance, scalability, and reproducibility of kidney organoids, while advanced analytical approaches support model validation and deepen mechanistic insight into nephrotoxicity.
Helen Kearney, Silvia M. Mihăilă, Lorenzo Moroni, Carlos Mota   +3 more
wiley   +1 more source

Fabrication, Properties, and Applications of Scaffolds for Bone Tissue Regeneration

Advanced Materials Technologies, EarlyView.
This review explores cutting‐edge biomaterials and fabrication techniques for scaffolds in bone tissue regeneration. It conducts a critical comparison of various strategies, meticulously analyzes the key contradictions in the field, and outlines an integrated development path spanning from biomaterial selection to clinical application, while ...
Shangsi Chen, Min Wang
wiley   +1 more source

Prevención de enfermedades genética en Las Tunas, nonestre de 2015

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: la inclusión de pacientes en los programas de prevención de enfermedades genéticas facilita la toma de conductas oportunas con la participación de la familia, contribuyendo a mantener indicadores adecuados de salud genética en la población ...
Orlando Peña Mancebo, Enelis Reyes Reyes, Nora María Orive Rodríguez, Lisset del Carmen Romero Portelles, Adriana Figuera Castillo   +4 more
doaj  

Hailey-Hailey disease: clinical, diagnostic and therapeutic update [PDF]

Anais Brasileiros de Dermatologia
Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes.
Adriana Maria Porro, Camila Arai Seque, Denise Miyamoto, Diego Vanderlei Medeiros da Nóbrega, Milvia Maria Simões e Silva Enokihara, Claudia Giuli Santi   +5 more
doaj   +1 more source

Lattice Structures for Bone Replacement: The Intersection of Bone Biomechanics, Lattice Design, and Additive Manufacturing

Advanced Materials Technologies, EarlyView.
This review outlines how understanding bone's biology, hierarchical architecture, and mechanical anisotropy informs the design of lattice structures that replicate bone morphology and mechanical behavior. Additive manufacturing enables the fabrication of orthopedic implants that incorporate such structures using a range of engineering materials ...
Stylianos Kechagias, Maxwell J. Munford, Frederik C.H. Masure, Richard J. van Arkel, Reece N Oosterbeek   +4 more
wiley   +1 more source