Results 71 to 80 of about 3,489,004 (303)

Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival

Orphanet Journal of Rare Diseases, 2022
Background Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare results with ...
Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi   +13 more
doaj   +1 more source

Synergistic perspectives—How single‐molecule biophysics complement biochemical understanding

FEBS Letters, EarlyView.
In this review, we discuss how ensemble biochemistry and single‐molecule approaches are complementary, outline commonly used single‐molecule techniques, and illustrate their relevance through two representative case studies: chromatin organization by SMC complexes and pathway choice during DNA double‐strand break repair.
Sara De Bragança, Eline L. Jansen, Jorine M. Eeftens   +2 more
wiley   +1 more source

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

Orphanet Journal of Rare Diseases
Background Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development.
Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi   +11 more
doaj   +1 more source

NGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry Nephropathy

Cells
Fabry disease (FD) is an X-linked lysosomal disorder caused by pathogenic variants in the GLA gene, resulting in α-galactosidase A deficiency and accumulation of Gb3/lyso-Gb3 (globotriaosylceramide/globotriaosylsphingosine) in cells, including podocytes ...
Margarita M. Ivanova, Julia Dao, Leah Svarny, Emily Nguyen, Sahithi Ponnam, Ozlem Goker-Alpan   +5 more
doaj   +1 more source

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

, 2023
Introduction: The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter-individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk ...
Biron-Andreani, Christine, De Mazancourt, Philippe, Frotscher, Birgit, Lucia Rugeri, Yesim Dargaud, Rugeri, Lucia, Nicolas Drillaud, Aurelien Lebreton, Philippe De Mazancourt, Chamouard, Valerie, Benoit Guillet, Dargaud, Yesim, Drillaud, Nicolas, De Raucourt, Emmanuelle, Valerie Roussel‐Robert, Lebreton, Aurelien, Guillet, Benoit, Christine Biron‐Andreani, Casini, Alessandro, Trossaert, Marc, Alessandro Casini, Emmanuelle De Raucourt, Birgit Frotscher, Valerie Chamouard, Roussel-Robert, Valerie, Marc Trossaert   +25 more
core   +1 more source

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk, Gailing Ma, Robin Antrobus, Diego Manni, Marco Trevisan‐Herraz, Mustafa Khwaja, Max Brown, Gavin D. Richardson, Masaaki Komatsu, Daniel Erskine, Viktor I. Korolchuk, Tetsushi Kataura   +11 more
wiley   +1 more source

A very rare bleeding disorder

BMJ, 1998
As a haematologist, I am often asked to evaluate patients for a possible bleeding disorder. A common story is that the patient has begun to notice bruising for which no antecedent cause can be identified. Many of the patients are young women who often present in early summer when they are more concerned about cosmetic disfigurement than a serious blood
openaire   +3 more sources

Functional comparison of EncB and EncC cargo proteins in iron storage within the Myxococcus xanthus encapsulin

FEBS Letters, EarlyView.
Encapsulins are protein nanocompartments that play an important role in iron storage. In the Myxococcus xanthus encapsulin system, two cargo proteins called EncB and EncC contribute to iron mineralization. Here, we show that EncB and EncC generate iron‐containing minerals with distinct chemical compositions, suggesting that the composition of stored ...
Harry B. McDowell, Thomas Walther, Egbert Hoiczyk   +2 more
wiley   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Metastatic niche shaped by host factors influences disseminated cancer cell fate

FEBS Letters, EarlyView.
Metastasis is shaped not only by cancer cells but also by the environments they encounter. This review explores how factors such as aging, diet, the microbiome, lifestyle, and environmental exposures remodel organ‐specific niches in the lung, liver, bone, and brain, influencing where metastatic cells survive, remain dormant, or grow, and ultimately ...
Gwennan Delyth Ward, Álvaro Ruiz‐Tabas, Patricia Altea‐Manzano   +2 more
wiley   +1 more source