Results 281 to 290 of about 13,340,828 (402)

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases

open access: yesGenetics in Medicine, 2018
D. Marshall   +10 more
semanticscholar   +1 more source

Endoglin mediates the tumor‐ and metastasis‐promoting traits of stromal myofibroblasts in human breast carcinomas

open access: yesMolecular Oncology, EarlyView.
Carcinoma‐associated fibroblasts (CAFs) in tumors influence cancer progression. We identified endoglin (ENG) as a key factor in TGF‐β signaling in myofibroblastic CAFs (myCAFs), linked to poor breast cancer outcomes. Inhibiting ENG on myCAFs suppressed the TGF‐β‐Smad2/3 pathway, reducing primary tumor growth and metastasis.
Shoki Okubo   +11 more
wiley   +1 more source

Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China. [PDF]

open access: yesSci Rep
Pan L   +14 more
europepmc   +1 more source

URIDINE MONOPHOSPHATE KINASE (UMPK)-A NEW GENETIC MARKER FOR SUSCEPTIBILITY TO HAEMOPHILUS INFLUENZAE TYPE B (HIB) DISEASE [PDF]

open access: bronze, 1984
Gloria M. Petersen   +5 more
openalex   +1 more source

Integrative miRNOMe profiling reveals the miR‐195‐5p–CHEK1 axis and its impact on luminal breast cancer outcomes

open access: yesMolecular Oncology, EarlyView.
In luminal (ER+) breast carcinoma (BC), miRNA profiling identified miR‐195‐5p as a key regulator of proliferation that targets CHEK1, CDC25A, and CCNE1. High CHEK1 expression correlates with worse relapse‐free survival after chemotherapy, especially in patients with luminal A subtype.
Veronika Boušková   +14 more
wiley   +1 more source

Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

open access: yesFrontiers in Genetics
Lidia Larizza   +5 more
doaj   +1 more source

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

open access: yesEuropean Journal of Human Genetics, 2017
Jacqueline Neubauer   +6 more
semanticscholar   +1 more source

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