[HTML][HTML] Experimental Cell Models for Investigating Neurodegenerative Diseases

C Evangelisti, S Ramadan, A Orlacchio… - International Journal of …, 2024 - mdpi.com
Experimental models play a pivotal role in biomedical research, facilitating the
understanding of disease mechanisms and the development of novel therapeutics. This is …

Epigenetic memory of radiotherapy in dermal fibroblasts impairs wound repair capacity in cancer survivors

X Bian, M Piipponen, Z Liu, L Luo, J Geara… - Nature …, 2024 - nature.com
Radiotherapy (RT), a common cancer treatment, unintentionally harms surrounding tissues,
including the skin, and hinders wound healing years after treatment. This study aims to …

The Inhibition of Interfacial Ice Formation and Stress Accumulation with Zwitterionic Betaine and Trehalose for High-Efficiency Skin Cryopreservation

X Liu, L Zhang, H Li, J Yang, L Zhang - Research, 2024 - spj.science.org
Cryopreservation is a promising technique for the long-term storage of skin. However, the
formation of ice crystals during cryopreservation unavoidably damages skin structure and …

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

DH Hock, NJ Caruana, LN Semcesen, NJ Lake… - medRxiv, 2024 - medrxiv.org
Only half of individuals with suspected rare diseases receive a definitive genetic diagnosis
following genomic testing. A genetic diagnosis allows access to appropriate patient care and …

Efficient protocol for isolating human fibroblast from primary skin cell cultures: application to keloid, hypertrophic scar, and normal skin biopsies

SS Ningsih, SWA Jusman, R Syaidah… - Biology Methods and …, 2024 - academic.oup.com
This protocol introduces a streamlined and efficient method for isolating human fibroblast
from skin primary cell culture with a specific focus on its application to keloid, hypertrophic …

Subcellular Region Morphology Reflects Cellular Identity

AC ROMAN, A Diaz-Pizarro, N Del Valle-Del Pino… - bioRxiv, 2024 - biorxiv.org
In multicellular organisms, various cells perform distinct physiological and structural roles.
Traditionally, cell identity has been defined through morphological features and molecular …

[HTML][HTML] An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder

T Shafiq, JL Feng, L Phillips, K Murias, M Ferguson… - Rare, 2024 - Elsevier
Disruption of genes within the HNRNP gene family has been observed in
neurodevelopmental and neurodegenerative diseases. The HNRNP-Related …

Mitochondrial ß-oxidation disorders: from screening to diagnosis, fasting metabolism and optimized treatment

DGE Olsson - 2024 - openarchive.ki.se
Mitochondrial beta-oxidation disorders are a group of recessive diseases characterized by
fasting intolerance and symptoms ranging from intermittent myalgia and rhabdomyolysis to …

Comparison of Culturing Methods of Primary Vaginal Fibroblasts

OO Cardenas-Trowers, TM Parsons, J Zhao… - …, 2022 - journals.lww.com
Study Design This was an in vitro study. Patients who were undergoing surgery for vaginal
prolapse were recruited. Excess vaginal epithelial tissue that would have otherwise been …

A Minimally Invasive Procedure for Fibroblasts Isolation from 1-mm Skin Punch Biopsies in Pediatric Patients

M Heredia-Torrejón, B Puga-López… - 2024 - protocols.io
The integration of multi-omics techniques has revolutionized the diagnosis of rare genetic
diseases. However, interpreting pediatric variants of uncertain significance (VUS) remains a …