A mentally retarded child with a translocation involving chromosomes 12 and 19. [PDF]
T W Histinx+5 more
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The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen+23 more
wiley +1 more source
The Association of D-Group Chromosomal Translocations and Defective Spermatogenesis [PDF]
Stephen R. Plymate+2 more
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Harnessing the Biological Responses Induced by Nanomaterials for Enhanced Cancer Therapy
Nanomaterial (NM)‐induced toxicity can be strategically repurposed for cancer therapy. This review summarizes the mechanism by which NMs selectively activate specific cellular processes to regulate cell fate independently. We also discussed how NMs‐induced biological responses can be leveraged as therapeutic strategies for cancer treatment.
Liting Wang+6 more
wiley +1 more source
Translocation of chromosome 4 and 9 with ring formation of chromosome 4 short arm. [PDF]
Rinat Bernstein‐Molho+2 more
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Large chromosomal structural variations between M. acuminata and M balbisiana and their consequences on chromosome recombination and segregation in a AAAB polyploidy context [PDF]
Many banana cultivars are triploid interspecific hybrids between M. acuminata (Genome A, 2n=22) and M. balbisiana (Genome B, 2n=22). They included the important group of Plantain cooking bananas classified as AAB.
Baurens, Franc-Christophe+7 more
core
Illuminating Tau Aggregates: Multiscale Approaches for Detection, Imaging, and Understanding
This review presents recent advances in molecular imaging of tauopathies, focusing on tau aggregation mechanisms, structural polymorphism, and imaging strategies. It highlights the development of tau‐selective fluorescent probes and PET tracers and explores emerging techniques such as cryo‐EM and super‐resolution imaging, offering a multiscale ...
Kaustubh R. Bhuskute+2 more
wiley +1 more source
QUINACRINE FLUORESCENT CHROMOSOME ANALYSIS OF THE SNELL TRANSLOCATION IN THE MOUSE [PDF]
D.A. Miller+6 more
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Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison+3 more
wiley +1 more source