Results 121 to 130 of about 4,553,133 (313)

The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community. [PDF]

, 2014
International audienceThe European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in ...
Charlotte Rodwell, Ségolène Aymé, Rodwell, Charlotte, Aymé, Ségolène   +3 more
core   +1 more source

Catastrophic health expenditure and equity in families of patients with phenylketonuria in China: a cross-sectional survey in 2025

Zhongguo gonggong weisheng
ObjectiveTo investigate the incidence, intensity, and influencing factors of catastrophic health expenditure (CHE) among families of patients with phenylketonuria (PKU) in China and to assess the contributions of various factors to the inequity in CHE ...
Hao DING, Jian GUO, Jiayin ZHENG, Linkang LI, Kun ZHAO   +4 more
doaj   +1 more source

Single‐cell DNA methylation profiling: Technologies, computation, and applications in precision oncology

Molecular Oncology, EarlyView.
Single‐cell DNA methylation (scDNAme) profiling maps epimutational clonal evolution, revealing mechanisms of malignancy and therapeutic resistance across diverse cancer types. By providing a high‐resolution landscape of intratumoral heterogeneity, these technologies empower precise patient stratification, guide the development of enhanced ...
Ik Soo Kim
wiley   +1 more source

Study on Drug List and Accessibility of Rare Diseases Based on the China′s Second List of Rare Diseases

Objective This study aims to sort out the rare disease drugs in the China′s Second List of Rare Diseases, to provide reference for the management of rare disease drug treatment.
ZHANG Bo, LIU Qingyang, ZHANG Shuyang, WANG Shaohong, ZUO Wei, LIU Xin   +5 more
core   +1 more source

Adult sickle cell disease and SARS-CoV-2: an increasingly common comorbidity for a rare disease

Italian Journal of Medicine
Sickle cell disease (SCD) is a collection of genetic lesions that manifest in the diminished effectiveness of hemoglobin. We collected and reviewed the recent and extant literature on SARS-CoV-2 (COVID-19) and SCD.
Michaela Boggan, Christopher L. Edwards, Jordan Meek, Mary Wood, W. Jeff Bryson, John J. Sollers, Debra O. Parker, Camela S. Barker, Jessica Miller, Brianna Downey, Asha Lockett, Jazmin Rosales, Courtney Munroe, Jr., Noa Wax, Sharena Scott   +14 more
doaj   +1 more source

Spatial biology in cancer epigenetics

Molecular Oncology, EarlyView.
Spatial epigenomics combines molecular profiling with tissue architecture to reveal how gene regulation is organized within intact tissues. In cancer, these technologies uncover the mechanisms driving tumor heterogeneity and microenvironmental interactions, opening new opportunities for biomarker discovery and precision medicine.
Eva Crespo‐García, Manel Esteller
wiley   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Oligodendrocyte precursor cells–microglia crosstalk via BMP4 drives microglial neuroprotective response and mitigates Alzheimer’s disease

Signal Transduction and Targeted Therapy
Oligodendrocyte precursor cells (OPCs) rapidly respond to neural injury, becoming activated to preserve myelin homeostasis and interacting with diverse cell types in the central nervous system (CNS). However, the molecular basis of OPC communication with
Soonbong Baek, Jaemyung Jang, Seungeun Yeo, Hyun Jin Jung, Youngshik Choe   +4 more
doaj   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

FEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura, Kengo Furuichi, Hiromitsu Akamatsu, Naoki Yamamoto, Sako Keisuke, Akihiko Koshino, Taichiro Minami, Megumi Oshima, Akinori Hara, Norihiko Sakai, Miho Shimizu, Kenta Takahashi, Minako Yamamura, Shin‐ichi Horike, Takiko Daikoku, Kenichi Harada, Yohei Shinmyo, Hiroshi Kawasaki, Takashi Wada, Yasunori Iwata   +19 more
wiley   +1 more source

The crystal structure of the Borrelia burgdorferi nicotinamidase BBE22 resolves a long‐standing annotation error

FEBS Open Bio, EarlyView.
The crystal structure of Borrelia burgdorferi nicotinamidase (PncA/BBE22) reveals the correct full‐length protein initiated from a non‐canonical AUU start codon. The structure validates previous biochemical findings and resolves a long‐standing annotation error, demonstrating that the truncated database sequence is structurally incompatible with the ...
Kalvis Brangulis
wiley   +1 more source