Results 111 to 120 of about 4,732,768 (313)

Glucosylceramide synthase modulation ameliorates murine renal pathologies and promotes macrophage effector function in vitro

Communications Biology
While significant advances have been made in understanding renal pathophysiology, less is known about the role of glycosphingolipid (GSL) metabolism in driving organ dysfunction.
Agnes Cheong, Florin Craciun, Hervé Husson, Joseph Gans, Javier Escobedo, Yi-Chien Chang, Lilu Guo, Mariana Goncalves, Nathan Kaplan, Laurie A. Smith, Sarah Moreno, Joseph Boulanger, Shiguang Liu, Jacqueline Saleh, Mindy Zhang, Anna S. Blazier, Weiliang Qiu, Andrew Macklin, Tejaswi Iyyanki, Clément Chatelain, Shameer Khader, Thomas A. Natoli, Oxana Ibraghimov-Beskrovnaya, Dimitry Ofengeim, Jonathan D. Proto   +24 more
doaj   +1 more source

Cancer‐associated mutations in endometriosis reframe a benign disease through molecular oncology

Molecular Oncology, EarlyView.
This review aims to comprehensively analyse cancer‐associated somatic mutations (CAMs) present in endometriotic lesions, emphasizing their biological roles, spatial distribution and implications for translational applications in medicine. By contextualizing a benign state within a genomic framework, this analysis seeks to establish its value as a ...
Clarissa Mujacic, Maria Concetta Vitale, Rita Siino, Emilia Di Giovanni, Carla Ferrante Bannera, Enrico Di Marco, Andrea Gottardo, Tancredi Didier Bazan Russo, Nadia Barraco, Alessandro Perez, Valerio Gristina, Antonio Galvano, Giuseppe Badalamenti, Antonio Russo, Viviana Bazan, Lorena Incorvaia   +15 more
wiley   +1 more source

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

, 2020
During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the "COVID-19 Helpline for Rare Bone Diseases" in an attempt to provide high ...
Boero S, Adami G, Bedeschi MF, Giannini S, Baroncelli GI, Berardi P, Gatti D, Brandi ML, Sangiorgi L, Castagnola E, Brizola E, Casareto L, Fraschini P   +12 more
core   +2 more sources

Preoperative circulating tumor cells integrated with imaging analysis for prognostic evaluation in head and neck squamous cell carcinoma

Molecular Oncology, EarlyView.
Detecting circulating tumor cells (CTCs) in blood before surgery may help predict outcomes in patients with head and neck squamous cell carcinoma (HNSCC). Here, we show when combined with tumor size and lymph node involvement from routine imaging, CTC status identifies high‐risk patients with poorer survival—offering a simple, minimally invasive tool ...
Susanne Flach, Gizem Abaci, Tom Huberty, Axel Lechner, Lukas Käsmann, Jens Ricke, Sophia Stöcklein, Martin Canis, Philipp Baumeister, Marianna Alunni‐Fabbroni   +9 more
wiley   +1 more source

New frontiers for rare pulmonary diseases

, 2005
This Issue of Sarcoidosis Vasculitis and Diffuse Lung Diseases is dedicated to a special event which was held in Milan in February 2005. The First International Conference on Rare Pulmonary Diseases and Orphan Drugs in Respiratory Medicine brought ...
Harari S., Agostini C.
core   +2 more sources

A Rare Opportunity in a Rare Disease [PDF]

Advances in Pulmonary Hypertension, 2018
Pulmonary hypertension (PH) is a chronic disease of the pulmonary vasculature, characterized by vessel remodeling that leads to increased pulmonary vascular resistance, right ventricular failure, and ultimately, death. While PH is somewhat simply defined as a mean pulmonary artery pressure (mPAP) on right heart catheterization (RHC) of greater than or ...
openaire   +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

Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer

Molecular Oncology, EarlyView.
Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso, Md Shohel Ul Islam, Rosa M Xicola, Raj Ramesar, Xavier Llor, Sinclair Steele   +5 more
wiley   +1 more source

The Effect of New Drugs on Mortality from Rare Diseases and HIV [PDF]

I investigate the effect of large increases in the number of drugs available to treat rare diseases and HIV on mortality associated with them. Mortality from both diseases declined dramatically following increases in drug approvals.
Frank R. Lichtenberg
core  

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source