Results 301 to 310 of about 195,947 (391)

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.

, 1993
Steven Chessler, Gillian A. Wallis, Peter H. Byers   +2 more
openalex   +1 more source

Current Trends and Future Prospects of Integrating Electrospinning With 3D Printing Techniques for Mimicking Bone Extracellular Matrix Scaffolds

Journal of Polymer Science, Volume 63, Issue 6, Page 1481-1504, 15 March 2025.
ABSTRACT This article presents a review of the recent findings on the combination of electrospun nanofibers and three‐dimensional (3D)‐printed structures for extracellular matrix (ECM) scaffolds for bone tissue engineering. We explore the synergy between electrospinning (ES), which produces highly porous, fibrous structures from materials like collagen
Kardo Khalid Abdullah, Kolos Molnár
wiley   +1 more source

Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta

, 1993
Daniel H. Cohn, Xiaoming Zhang, Peter H. Byers   +2 more
openalex   +1 more source

Notch Signaling in Osteogenesis, Osteoclastogenesis, and Angiogenesis.

American Journal of Pathology, 2019
Zheng-liang Luo, X. Shang, Hao Zhang, Guangxi Wang, P. Massey, S. Barton, C. Kevil, Yufeng Dong   +7 more
semanticscholar   +1 more source

Forging a New Frontier: Antimicrobial Peptides and Nanotechnology Converging to Conquer Gastrointestinal Pathogens

Small, EarlyView.
This review explores the potential of antimicrobial peptides (AMPs) and nanotechnology for the treatment of gastrointestinal infections. It analyzes bacterial resistance mechanisms, the antimicrobial actions of AMPs, and advances in nanocarriers, such as lipid‐based, polymeric, metallic, and mesoporous silica systems, that enhance peptide protection ...
Christian Shleider Carnero Canales, Cesar Augusto Roque‐Borda, Jessica Ingrid Marquez Cazorla, Renzo Marianito Marquez Cazorla, Uner Josseph Pinto Apaza, Vanderson de Jesus Silva, Laura Maria Duran Gleriani Primo, Maura Jennifer Martínez‐Morales, Rafael Miguel Sábio, Hélder A. Santos, Fernando Rogério Pavan   +10 more
wiley   +1 more source

Estradiol and vitamin D exert a synergistic effect on preventing osteoporosis via the miR-351-5p/IRS1 axis and mTOR/NFκB signaling pathway. [PDF]

Sci Rep
Dai X, Liu C, Bi W, Zheng G, Lv K, Xia Z.   +5 more
europepmc   +1 more source

Therapeutic Trial with 3-Amino-1-hydroxypropylidene-1, 1-bisphosphonate (APD) in a Patient with Osteogenesis Imperfecta

, 1994
Hiroko Kodama, K. Kubota, Taketoshi Iizuka, Yutaka Nakazato, Toshiaki Abe, Hiroshi Igarashi   +5 more
openalex   +2 more sources

3D‐Printed Microfluidic Platform for Creating Porous Nanofibrous Microspheres to Regulate Cell Response and Enhance Tissue Regeneration

Small, EarlyView.
A 3D‐printed microfluidic platform enables the scalable production of porous nanofibrous microspheres (PNMs) with controlled size and porosity. These PNMs, functionalized with bioactive molecules, enhance osteogenesis, angiogenesis, and anti‐inflammatory responses, demonstrating significant potential for tissue regeneration.
Donghee Lee, Huy Quang Tran, Navatha Shree Sharma, Syed Muntazir Andrabi, Zishuo Yan, Amy C. Killeen, Richard A. Reinhardt, Wuqiang Zhu, Jingwei Xie   +8 more
wiley   +1 more source

<i>Ano5</i> Deficiency Leads to Abnormal Bone Formation via miR-34c-5p/KLF4/β-Catenin in Gnathodiaphyseal Dysplasia. [PDF]

Int J Mol Sci
Wang S, Zhang S, Xu H, Zhang M, Liu X, Liu S, Li H, Hu Y.   +7 more
europepmc   +1 more source