Results 141 to 150 of about 110,933 (294)

Genotype–Phenotype Correlations of Li–Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort

open access: yesCancer Science, EarlyView.
This study investigates genotype–phenotype correlations in Japanese families with germline TP53 pathogenic variants, collected through a nationwide prospective cancer surveillance study (JCCG LFS‐20). Among 41 families analyzed, 36 met criteria for Li–Fraumeni syndrome (LFS), and 5 were classified as attenuated LFS.
Fumito Yamazaki   +14 more
wiley   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

open access: yesClinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald   +10 more
wiley   +1 more source

Liquid–Liquid Phase Separation in Major Hallmarks of Cancer

open access: yesCell Proliferation, EarlyView.
Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie   +10 more
wiley   +1 more source

A mechanism for telomere-specific telomere length regulation. [PDF]

open access: yesNucleic Acids Res
Teplitz GM   +8 more
europepmc   +1 more source

Pulmonary Vascular Endothelial Cells in Lung Diseases: Mechanisms, Therapeutic Strategies, and Future Directions

open access: yesCell Proliferation, EarlyView.
The pathogenic mechanisms of pulmonary vascular endothelial cells (VECs) in lung diseases and their multimodal therapeutic strategies. ABSTRACT Pulmonary vascular endothelial cells (VECs) are essential for the normal function of the lung, through maintaining vascular barrier integrity, regulating blood flow, and participating in inflammatory responses ...
Qianyue Liu   +5 more
wiley   +1 more source

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