Results 111 to 120 of about 10,428 (253)

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Circadian Deregulation in Multiple Myeloma: BMAL1/CLOCK Expression Patterns and Diagnostic Performance

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Circadian clock disruption has emerged as a relevant axis in cancer; however, the expression patterns and diagnostic relevance of BMAL1 and CLOCK in multiple myeloma (MM) remain insufficiently defined. Methods BMAL1 and CLOCK mRNA expression was quantified by RT‐qPCR in bone marrow samples from 46 newly diagnosed MM patients and 13 ...
Hamide Albayrak, Mustafa Ertan Ay, Anıl Tombak, Kenan Çevik, Özlem İzci Ay, Tuba Kabasakal, Mehmet Emin Erdal   +6 more
wiley   +1 more source

The Patient, the Provider, and the TikTok Creator: Qualitative Analysis of the Content and Quality of Videos on Prenatal Genetic Screening

Journal of Midwifery &Women's Health, EarlyView.
Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Erin P. Johnson, Naomi O. Riches, Stephanie Arceneaux, Emma Murdock, Caitlin Quade, Susanna R. Cohen, Robin E. Jensen   +6 more
wiley   +1 more source

ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies. [PDF]

Bioinformatics
Rohrlach AB, Tuke J, Prüfer K, Haak W.
europepmc   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing. [PDF]

Bioinformatics
Barco-Armengol N, Yubero D, Xiol C, Catasús N, Martí-Sánchez L, Armstrong J, Palau F, Fernandez G.   +7 more
europepmc   +1 more source

Kinetochore size correlates with chromosome size in Star of Bethlehem (Ornithogalum kochii Parl., Asparagaceae)

Plant Biology, EarlyView.
Cytogenetic quantification of KNL1‐labelled kinetochores in Ornithogalum kochii reveals a significant positive scaling relationship between chromosome size and kinetochore size, demonstrating that chromosome–kinetochore scaling operates even across moderate intra‐karyotype size variation.
K. Panda, M. Hroneš, F. Zedek
wiley   +1 more source

Cost-effectiveness of non-invasive prenatal testing (NIPT) versus direct amniocentesis for screening of fetal chromosomal aneuploidies in Brazilian private health system. [PDF]

Cost Eff Resour Alloc
Marinho JCN, Fandim JV, Simões RDS, Galendi JSC.   +3 more
europepmc   +1 more source