Results 151 to 160 of about 59,057 (299)

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

Immune checkpoint inhibitor-driven smooth muscle cell phenotypic modulation: a potential contributor to atherosclerotic risk associated with these therapies. [PDF]

Front Cardiovasc Med
Chattopadhyay A, Dosunmu AO, Reddy D, Dharma S, Panchal K, Kwartler CS, Milewicz DM.   +6 more
europepmc   +1 more source

The Politics of (E)valuation in Community Projects: Creating a Living Impact Methodology to Pluralize Accountability and Center Lived Experience

Financial Accountability &Management, EarlyView.
ABSTRACT Increasingly, community‐based organizations (CBOs) that have a social impact are required to evidence their impact through accountability and evaluation methods that are complex and inappropriate for their specific context. In response to this challenge, we offer a participatory approach to social return on investment (SROI), which builds on a
Rebecca Warren, Christopher Cunningham, Lewis Smith   +2 more
wiley   +1 more source

Multiple Roles of G3BP1 in Regulating STING-Dependent Interferon and Cytokine Induction by Cytosolic dsDNA and HSV-1 Infection. [PDF]

Viruses
Devale T, Manivannan P, Malathi K.
europepmc   +1 more source

Parenting Program for Families in Contexts of Social Vulnerability Within the Spanish Red Cross

Family Relations, EarlyView.
ABSTRACT Objective The main aim of the present study was to test the impact of the Parenting Team Program (PTP), an intervention for families in contexts of social vulnerability with children aged 0–6 years, carried out in the regional offices of the Spanish Red Cross.
Florencia Barreto‐Zarza, Adriana Díaz‐Argüello, Carmen San Martin Cabezón, Enrique B. Arranz‐Freijo   +3 more
wiley   +1 more source

Gut microbiota-derived indole-3-propionic acid alleviates endoplasmic reticulum stress by regulating FMO2 in MASLD. [PDF]

Hepatol Commun
Luo Y, Zhang Y, Zhang Q, Li X, Cai K, Xu Y, Zhao R, Zhang S, Bai X, Chen H, Li H, Hong Y, Liao Q, Xie Z.   +13 more
europepmc   +1 more source

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

KATP Channel Expression Determines ONC212 Sensitivity via Mitochondrial Dysfunction and PERK/ATF4/CHOP Activation in Glioblastoma. [PDF]

J Cell Mol Med
Taskesen A, Hacioglu C.
europepmc   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

ATF4 orchestrates cancer hallmarks: Stress adaptation, metabolic reprogramming and immune suppression. [PDF]

iScience
Peng Z, Xu T, Xia Z, Han H, Ding B, Yang L, Ren W, Ye H.   +7 more
europepmc   +1 more source