Results 191 to 200 of about 202,059 (264)

Risks of non-breast, non-ovarian cancers for BRCA1 and BRCA2 pathogenic variant carriers: a prospective cohort study. [PDF]

BMC Med
Yang R, MacInnis RJ, Milne RL, Nguyen-Dumont T, Maxwell WF, Genkinger JM, Glendon G, Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer (kConFab), Ross EA, Andrulis IL, Colonna SV, Daly M, John EM, Kurian AW, Terry MB, Hopper JL, Southey MC, Phillips KA, Li S.   +18 more
europepmc   +1 more source

GelMA‐based 3D spheroids recapitulate transcriptomic and functional hallmarks of myeloid sarcoma

FEBS Open Bio, EarlyView.
GelMA 5% hydrogels support the formation of myeloid leukemia spheroids that recapitulate MS‐specific features, including G1 arrest, apoptosis, and ECM‐driven transcriptomic reprogramming. The 3D model mimicked soft‐tissue‐like stiffness and oxygen conditions, and transcriptomic convergence with primary MS samples confirmed its utility as a preclinical ...
Nicolas Germain, Elise Buret, Le Hoang Thanh Nguyen, Marion Cocheteux, Nicolas Touya, Mélanie Dhayer, Romain Dubois, Frank Lafont, Sebastien Janel, Patrice Maboudou, Steve Lancel, Philippe Marchetti   +11 more
wiley   +1 more source

Co-Existing Charcot-Marie-Tooth Disease Type II and Parkinson's Disease Linked to a Novel DNAjB2 Pathogenic Variant. [PDF]

J Cent Nerv Syst Dis
Lerint AN, Canenguez Benitez JS, Valaparla VL, Shanina E, Wu LJ.   +4 more
europepmc   +1 more source

BCG vaccination potentiates oxidative phosphorylation in neonatal myeloid‐derived suppressor cells

FEBS Open Bio, EarlyView.
BCG vaccination enhances oxidative phosphorylation in neonatal MDSCs, impairing their immunosuppressive function. It upregulates electron transport chain genes and mitochondrial activity, increasing ATP and oxygen consumption. Pharmacological OXPHOS inhibition partially restores suppressive capacity, confirming causality.
Yingying Chen, Hui Li
wiley   +1 more source

Case Report: Novel pathogenic variant in autosomal recessive <i>WNT10A</i>-related odonto-onycho-dermal dysplasia. [PDF]

Front Genet
Kalaszi M, Moore C, Koniari C, Mavridis T.   +3 more
europepmc   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation. [PDF]

J Clin Lab Anal
Hong YJ, Yang M, Kwon HJ, Cha J, Jang JH, Wang SE, Lee ES, Jang MA.   +7 more
europepmc   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Five‐Year Outcomes of Laparoscopic Sphincter‐Preserving Surgery for Rectal Cancer: A Prospective Study in Elderly Vietnamese Patients

Aging and Cancer, EarlyView.
This prospective study demonstrates that laparoscopic sphincter‐preserving surgery is feasible for elderly patients. While overall survival reaches 70% at 5 years, advanced T‐stage and the omission of neoadjuvant therapy significantly drive recurrence, highlighting the need for personalized geriatric protocols despite logistical challenges.
Huu Duc Ho, Quang Le, Ngoc Thach Tran, Van Viet Ung, Loc Vu   +4 more
wiley   +1 more source

A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32. [PDF]

Neurogenetics
Yang J, Yu Y, Jiang H, Che Y, Wu D, Li H, Hu Y, Zhu J, Ma D.   +8 more
europepmc   +1 more source