Results 151 to 160 of about 110,933 (294)

Interstitial 11q Deletions and Terminal 11q Duplications Cause a Bleeding Tendency due to Platelet Dysfunction That Is Similar to 11q Deletions Causing Jacobsen Syndrome

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Introduction Jacobsen syndrome, resulting from a terminal deletion of chromosome 11 (11q), may lead to an increased bleeding tendency due to low platelet counts or platelet dysfunction. Currently, information on bleeding tendency and platelet function in patients with nonterminal 11q‐aberrations such as larger deletions, interstitial 11q ...
Elise J. Huisman   +10 more
wiley   +1 more source

Aquaporin‐1, aquaporin‐3 and aquaporin‐5 differentially modulate cell biophysical and biomechanical properties, impacting cell stiffness and cell–cell adhesion

open access: yesThe FEBS Journal, EarlyView.
GA text Overexpression of aquaporins AQP1, AQP3, or AQP5 in HEK‐293 T cells induced changes in cell biophysical properties and migration. Atomic force microscopy (AFM)–based force spectroscopy studies demonstrated that AQP1 overexpression increased cell stiffness and cell–cell adhesion, AQP3 augmented cell stiffness but reduced cell–cell adhesion ...
Catarina Pimpão   +5 more
wiley   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

open access: yesThe FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola   +11 more
wiley   +1 more source

Exploring the synergy between telomere length and genomic complexity in CLL

open access: yes
British Journal of Haematology, EarlyView.
Silvia Ramos‐Campoy   +19 more
wiley   +1 more source

Bacterial porphyrins in healthy skin: Microbiota components impact melanogenesis and age‐related processes leading to Porphyr'ageing

open access: yesInternational Journal of Cosmetic Science, EarlyView.
Porphyrins, previously linked only to acne inflammation, are now implicated in skin ageing. Their presence correlates with increased melanin, inflammation, and oxidative stress, contributing to premature ageing signs. This study introduces the concept of “Porphyr'ageing,” highlighting the detrimental effects of bacterial metabolites on skin health and ...
Marie Meunier   +9 more
wiley   +1 more source

CBMT-45. A NOVEL C-CIRCLE ASSAY FOR DETECTING ALTERNATIVE LENGTHENING OF TELOMERES (ALT) MECHANISMS [PDF]

open access: bronze, 2018
Humaira Noor   +3 more
openalex   +1 more source

Practitioner Review: Infant mental health meets cell and molecular biology – a look to the future

open access: yesJournal of Child Psychology and Psychiatry, EarlyView.
Background A major research effort in the past two decades has begun to illuminate how experience ‘gets under the skin’ – that is – the cellular and molecular processes that are associated with adversity and resilience. Methods We selectively review three areas of this research: epigenetics, especially DNA methylation, telomere length, and inflammatory
Charles H. Zeanah   +3 more
wiley   +1 more source

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