Results 161 to 170 of about 111,505 (342)

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human Mutation, Volume 43, Issue 12, Page 2308-2323, December 2022., 2022
Abstract Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via disruption/creation of splicing motifs such as 5′/3′ splice sites, branch sites, or splicing regulatory elements.
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, Emmanuelle Girodon, Laurence Pacot, Gérald Le Gac, Chandran Ka, Claude Ferec, Yann Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, Dominique Vaur, Laurent Castera, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, Omar Soukarieh, Pascaline Gaildrat, Florence Riant, Marine Guillaud‐Bataille, Sandrine M. Caputo, Virginie Caux‐Moncoutier, Nadia Boutry‐Kryza, Françoise Bonnet‐Dorion, Ines Schultz, Maria Rossing, Olivier Quenez, Louis Goldenberg, Valentin Harter, Michael T. Parsons, Amanda B. Spurdle, Thierry Frébourg, Alexandra Martins, Claude Houdayer, Sophie Krieger   +35 more
wiley   +1 more source

Blocking ITGA5 potentiates the efficacy of anti‐PD‐1 therapy on glioblastoma by remodeling tumor‐associated macrophages

Cancer Communications, EarlyView.
Abstract Background Glioblastoma (GBM) is largely refractory to antibodies against programmed cell death 1 (anti‐PD‐1) therapy. Fully understanding the cellular heterogeneity and immune adaptations in response to anti‐PD‐1 therapy is necessary to design more effective immunotherapies for GBM.
Rongrong Zhao, Ziwen Pan, Jiawei Qiu, Boyan Li, Yanhua Qi, Zijie Gao, Wei Qiu, Weijie Tang, Xiaofan Guo, Lin Deng, Gang Li, Hao Xue   +11 more
wiley   +1 more source

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Human Mutation, Volume 43, Issue 12, Page 1872-1881, December 2022., 2022
Abstract ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a highly variable recessive ectopic calcification disorder.
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F. Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M. Vanakker, Kalman Tory, Tamas Aranyi   +15 more
wiley   +1 more source

A Systematic Review of Risk Factors for Intimate Partner Violence

Partner Abuse, 2012
D. Capaldi, N. Knoble, J. Shortt, Hyoun K. Kim   +3 more
semanticscholar   +1 more source

Commentary: Three questions for the study of traumatic brain injury in animals

The Anatomical Record, EarlyView.
Gregory Hollin
wiley   +1 more source

Immunosuppressive JAG2+ tumor‐associated neutrophils hamper PD‐1 blockade response in ovarian cancer by mediating the differentiation of effector regulatory T cells

Cancer Communications, EarlyView.
Abstract Background Tumor‐associated neutrophils (TANs) play a critical role in modulating immune responses and exhibit significant heterogeneity. Our previous study demonstrated that jagged canonical Notch ligand 2 (JAG2)+ TANs were associated with an immunosuppressive microenvironment in high‐grade serous ovarian cancer (HGSOC), but the underlying ...
Chenyang Wang, Moran Yang, Yujing Zhong, Kankan Cao, Xueling Wang, Chen Zhang, Yiying Wang, Mengdi He, Jiaqi Lu, Guodong Zhang, Yan Huang, Haiou Liu   +11 more
wiley   +1 more source

Towards Scalable Defenses against Intimate Partner Infiltrations [PDF]

arXiv
Intimate Partner Infiltration (IPI)--a type of Intimate Partner Violence (IPV) that typically requires physical access to a victim's device--is a pervasive concern in the United States, often manifesting through digital surveillance, control, and monitoring.
arxiv  

What distinguishes unintentional injuries from injuries due to intimate partner violence: a study in Greek ambulatory care settings [PDF]

, 2002
Eleni Petridou, Angela Browne, Edward A. Lichter, Xanthi Dedoukou, Delia-Marina Alexe, Nick Dessypris   +5 more
openalex   +1 more source

Privacy or Transparency? Negotiated Smartphone Access as a Signifier of Trust in Romantic Relationships [PDF]

arXiv
In this work, we analyze two large-scale surveys to examine how individuals think about sharing smartphone access with romantic partners as a function of trust in relationships. We find that the majority of couples have access to each others' devices, but may have explicit or implicit boundaries on how this access is to be used.
arxiv  

Gender Differences in the Experience of Intimate Partner Violence among Active Duty U.S. Army Soldiers [PDF]

, 2002
Leora N. Rosen, Angela Moore Parmley, Kathryn H. Knudson, Peggy Fancher   +3 more
openalex   +1 more source