Results 21 to 30 of about 395,744 (213)

Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities

Frontiers in Genetics, 2020
The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice.
Crescenzio Francesco Minervini, Cosimo Cumbo, Paola Orsini, Luisa Anelli, Antonella Zagaria, Giorgina Specchia, Francesco Albano   +6 more
doaj   +1 more source

Precision Medicine in a Community Cancer Center: Pan-Cancer DNA/RNA Sequencing of Tumors Reveals Clinically Relevant Gene Fusions

Biologics, 2023
Background: Gene fusions occur when two independent genes form a hybrid gene through genomic rearrangements, which often leads to abnormal expression and function of an encoded protein.
Sourat Darabi, Carlos E. Zuazo, David R. Braxton, Burton L. Eisenberg, Michael J. Demeure   +4 more
doaj   +1 more source

Genetic Predictors of Mortality in Patients with Multiple Myeloma

The Application of Clinical Genetics, 2021
Hamza Hassan,1 Raphael Szalat1,2 1Department of Hematology and Medical Oncology, Boston University Medical Center, Boston, MA, USA; 2Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USACorrespondence: Raphael ...
Hassan H, Szalat R
doaj  

Recent advances and current challenges in population genomics of structural variation in animals and plants

Frontiers in Genetics, 2022
The field of population genomics has seen a surge of studies on genomic structural variation over the past two decades. These studies witnessed that structural variation is taxonomically ubiquitous and represent a dominant form of genetic variation ...
Ivan Pokrovac, Željka Pezer
doaj   +1 more source

Feasibility and Safety of Somato‐Cognitive Coordination Therapy for Cerebellar Ataxia Following Pediatric Brain Tumor Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Cerebellar ataxia after pediatric brain tumor treatment can cause persistent gait, balance, and speech impairment, yet no established rehabilitation strategy exists. Somato‐cognitive coordination therapy (SCCT) is a virtual reality–guided intervention designed to promote sensorimotor integration through visually constrained reaching
Masanobu Takeuchi, Takashi Matsuzawa, Jun Yamanishi, Masahiro Yoshitomi, Junji Ikeda, Shin‐Ichi Tsujimoto, Yasuteru Yamaguchi, Norio Shiba, Dhroov Pathare, Ayumi Kato, Masahiko Hara   +10 more
wiley   +1 more source

Intra-Species Genomic Variation in the Pine Pathogen Fusarium circinatum

Journal of Fungi, 2022
Fusarium circinatum is an important global pathogen of pine trees. Genome plasticity has been observed in different isolates of the fungus, but no genome comparisons are available.
Mkhululi N. Maphosa, Emma T. Steenkamp, Aquillah M. Kanzi, Stephanie van Wyk, Lieschen De Vos, Quentin C. Santana, Tuan A. Duong, Brenda D. Wingfield   +7 more
doaj   +1 more source

Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte, Hannah Koch, Olivia A. Coughlin, Jillian R. Bouck, Allie Carter, Seethal A. Jacob   +5 more
wiley   +1 more source

Genetic variation for adaptive traits is associated with polymorphic inversions in Littorina saxatilis

Evolution Letters, 2021
Chromosomal inversions have long been recognized for their role in local adaptation. By suppressing recombination in heterozygous individuals, they can maintain coadapted gene complexes and protect them from homogenizing effects of gene flow. However, to
Eva L. Koch, Hernán E. Morales, Jenny Larsson, Anja M. Westram, Rui Faria, Alan R. Lemmon, E. Moriarty Lemmon, Kerstin Johannesson, Roger K. Butlin   +8 more
doaj   +1 more source

Ironic Medications: A Narrative‐Based Psycho‐Educational Intervention to Explore Patient–Provider Communication in Adolescents With Haematological Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with haematological malignancies face significant emotional and relational challenges, often accompanied by difficulties in communicating their needs within the healthcare context. To address these issues, a narrative‐based psycho‐educational intervention based on the creation and prescription of Ironic Medications was ...
Marta Stoppa, Elena Pagani Bagliacca, Selena Russo, Giulia Rampoldi, Maria Grazia Strepparava, Adriana Cristina Balduzzi, Andrea Biondi, Marco Spinelli   +7 more
wiley   +1 more source

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Frontiers in Cell and Developmental Biology, 2021
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome.
Giulia Ascari, Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Miriam Bauwens, Mattias Van Heetvelde, Mattias Van Heetvelde, Gavin Arno, Gavin Arno, Gavin Arno, Julie Jacob, David Creytens, David Creytens, Jo Van Dorpe, Jo Van Dorpe, Thalia Van Laethem, Thalia Van Laethem, Toon Rosseel, Toon Rosseel, Tim De Pooter, Tim De Pooter, Peter De Rijk, Peter De Rijk, Wouter De Coster, Wouter De Coster, Björn Menten, Björn Menten, Alfredo Dueñas Rey, Alfredo Dueñas Rey, Mojca Strazisar, Mojca Strazisar, Mette Bertelsen, Mette Bertelsen, Lisbeth Tranebjaerg, Lisbeth Tranebjaerg, Elfride De Baere, Elfride De Baere   +40 more
doaj   +1 more source