Results 71 to 80 of about 11,580,920 (364)

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine
Boston Children’s Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients.
Courtney E. French, Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra, Janet Chou, Wendy K. Chung, Alissa M. D’Gama, Ryan N. Doan, Darius Ebrahimi-Fakhari, Richard D. Goldstein, Mira Irons, Christina Jacobsen, Margaret Kenna, Ted Lee, Jill A. Madden, Amar J. Majmundar, Nina Mann, Sarah U. Morton, Annapurna Poduri, Adrienne G. Randolph, Amy E. Roberts, Stephanie Roberts, Matthew G. Sampson, Diane D. Shao, Wanqing Shao, Aditi Sharma, Eliot Shearer, Akiko Shimamura, Scott B. Snapper, Siddharth Srivastava, Jay R. Thiagarajah, Mary C. Whitman, Monica H. Wojcik, Shira Rockowitz, Piotr Sliz   +36 more
doaj   +1 more source

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

European Journal of Histochemistry, 2022
Sarcoglycanopathies are highly heterogeneous in terms of disease progression, muscular weakness, loss of ambulation and cardiac/respiratory involvement.
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco   +10 more
doaj   +1 more source

Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation

FEBS Letters, EarlyView.
The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt, Marcus S. Münchhoff, Jacqueline Krohn, Philip M. Palarz, Manuel H. Taft, Johannes N. Greve, Nataliya Di Donato, Falk F. R. Buettner, Dietmar J. Manstein   +8 more
wiley   +1 more source

Increased circulating progranulin is not sufficient to induce cardiac dysfunction or supraventricular arrhythmia

Scientific Reports, 2023
Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia, and the incidence of new-onset AF has been increasing over the past two decades. Several factors contribute to the risk of developing AF including age, preexisting cardiovascular disease,
Kevin E. McElhanon, Tyler C. Huff, Dinesh Hirenallur-Shanthappa, Russell A. Miller, Nicolas Christoforou   +4 more
doaj   +1 more source

Circulating histones as clinical biomarkers in critically ill conditions

FEBS Letters, EarlyView.
Circulating histones are emerging as promising biomarkers in critical illness due to their diagnostic, prognostic, and therapeutic potential. Detection methods such as ELISA and mass spectrometry provide reliable approaches for quantifying histone levels in plasma samples.
José Luis García‐Gimenez, Juan Carlos Ruiz‐Rodríguez, Ricard Ferrer, Raquel Durá, Antonio Artigas, Iván Bajaña, David Bolado López de Andujar, Irene Cánovas‐Cervera, Adrián Ceccato, Luis Chiscano‐Camón, Elena Climent‐Martinez, Georgia García Fernández, Gemma Goma, Verónica Monforte, Beatriz Quevedo‐Sánchez, Adolf Ruiz‐Sanmartín, Antonio Sierra‐Rivera, Nieves Carbonell Monleón   +17 more
wiley   +1 more source

Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of ALXN1820 (Tarperprumig) in Healthy Adults: Results of a Phase I Study

Clinical and Translational Science
Properdin is an endogenous positive regulator of the complement alternative pathway (AP). Tarperprumig (ALXN1820), a novel humanized bispecific antibody, binds properdin and albumin and is being developed to treat complement‐mediated diseases. This phase
Avner Sandhu, Tong Shen, Paz Martin Herrero, Chao‐Xing Yuan, Samirah Qureshi, Xiaoyu Jiang, Ye Sheng, Christoph Gasteyger, Yang Dai   +8 more
doaj   +1 more source

Flow‐based immunomagnetic enrichment of circulating tumor cells from diagnostic leukapheresis product

Molecular Oncology, EarlyView.
The number of circulating tumor cells obtained from prostate cancer patients was increased approximately 5‐fold compared to regular CellSearch when processing 2 mL diagnostic leukapheresis material aliquots and increased by 44‐fold when processing 20 mL DLA aliquots using the flow enrichment target capture Halbach‐array.
Michiel Stevens, Anouk Mentink, Frank A. W. Coumans, Eshwari Dathathri, Khrystany T. Isebia, Jaco Kraan, Ronald de Wit, John W. M. Martens, Leon W. M. M. Terstappen   +8 more
wiley   +1 more source

The Challenge of Rare Diseases [PDF]

Chest, 2018
Rare diseases pose particular challenges to patients who are affected, to the clinicians who care for them, and to the investigators who study their conditions. Although individually uncommon, rare diseases are common in the aggregate, with approximately 7,000 described rare diseases affecting 25 to 30 million US adults.
openaire   +3 more sources

IntroducingRare Diseases [PDF]

Rare Diseases, 2013
We are pleased to introduce Rare Diseases, an open access journal dedicated to publishing high-quality research that addresses the many aspects related to rare diseases. Rare Diseases will cover a range of topics including the studies of disease-related proteins, the analyses of rare disease mutations, gene expression studies, genotype-phenotype ...
Patricia Szajner, Timur Yusufzai
openaire   +3 more sources

Secondary sclerosing cholangitis in critically ill patients: a rare disease precipitated by severe SARS-CoV-2 infection

BMJ Case Reports, 2020
A previously well 59-year-old man required a prolonged intensive care unit stay due to severe COVID-19 symptoms. During the admission, he developed a cytokine storm, also known as secondary haemophagocytic lymphohistocytosis, and multiorgan failure ...
K. Edwards, M. Allison, S. Ghuman
semanticscholar   +1 more source