Results 81 to 90 of about 18,763 (263)

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, Volume 108, Issue 6, Page 731-741, December 2025.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Anaemia of inflammation in sickle cell disease: A review of aetiopathogenesis, management, and prevention of sterile and septic inflammation in patients with sickle cell disease

Ibom Medical Journal
Background: SCD is strongly associated with sterile inflammation (STERIN) and septic inflammation (SEPTIN). Thus, in addition to haemolysis, anaemia in SCD has dual ‘inflammatory’ components; (1)-anaemia of sterile inflammation (ASTERIN) and (2)-anaemia
Ahmed SG, Ibrahim UA
doaj   +1 more source

Revealing Causal Protein Biomarkers and Potential Therapeutic Targets for Histologic‐Specific Lung Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 23, December 2025.
ABSTRACT Considering the distinct etiological pathways and molecular characteristics of different lung cancer subtypes, it is crucial to develop subtype‐specific prevention strategies and therapeutic targets. This study aimed to identify protein biomarkers and potential therapeutic targets for specific subtypes of lung cancer by integrating population ...
Wen Sun, Jingyang Liu, Jiayan Li, Ning Li, Xiaoyu Zhang, Changwei Li, Li Zhang, Yan He, Lijuan Wu, Xiao Wang, Jianguang Ji, Deqiang Zheng   +11 more
wiley   +1 more source

Cytoskeleton: Cirque du Septins [PDF]

Current Biology, 2014
Septins and F-actin are familiar cohabitants of the cleavage furrow yet how they might be functionally connected has been ambiguous. New work shows that septins can promote the assembly of curved bundles of F-actin, providing an unexpected molecular function for septins in cytokinesis.
openaire   +2 more sources

c‐Abl Kinase Targets Tight Junction Protein ZO‐2 in Regulation of Cell Migration and Morphology

The FASEB Journal, Volume 39, Issue 22, 30 November 2025.
c‐Abl binds and phosphorylates ZO‐2 directly at its C‐terminus and indirectly at the N‐terminus via JAK1. These phosphorylation events weaken cytoskeletal contractility, lower traction forces, and reduce cell migration, establishing ZO‐2 as a central mediator linking c‐Abl activity to changes in cell morphology and motility.
Doo Eun Choi, Bomi Gweon, Jacob Notbohm, Heejin Kim, Xue‐Song Liu, Jeffrey J. Fredberg   +5 more
wiley   +1 more source

SEPT2 (septin 2) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on SEPT2 (septin 2), with data on DNA, on the protein encoded, and where the gene is implicated.
N Cerveira, MR Teixeira
openaire   +1 more source

Cytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, Volume 12, Issue 11, Page 2258-2270, November 2025.
ABSTRACT Objectives To investigate the value of cytokine, chemokine, and neurofilament light chain (NfL) concentrations in predicting relapse risk, chronic epilepsy, and functional impairment in LGI1 autoimmune encephalitis (AE). Methods Cytokines/chemokines (IL‐1‐beta, IL‐2, IL‐4, IL‐5, IL‐6, IL‐8/CXCL8, IL‐10, IL‐12p70, IL‐13, IL‐17A, GM‐CSF, TNF ...
Albert Aboseif, Georgios Mangioris, Binxia Yang, Vanessa K. Pazdernik, Jeffrey W. Britton, Divyanshu Dubey, Eoin P. Flanagan, Sarosh R. Irani, Gregory S. Day, Charles L. Howe, A. Sebastian López‐Chiriboga, Andrew McKeon, John R. Mills, Yahel Segal, Michel Toledano, Ivana Vodopivec, Sean J. Pittock, Anastasia Zekeridou   +17 more
wiley   +1 more source

SEPT6á(septin 6) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on SEPT6 (septin 6), with data on DNA, on the protein encoded, and where the gene is implicated.
U Fuchs, A Borkhardt
openaire   +1 more source

SEPT7 (septin 7) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017
Review on SEPT7, with data on DNA/RNA, on the protein encoded and where the gene is implicated.
Arman, Kaifee, Bozgeyik, Esra, Igci, Yusuf Ziya, Igci, Mehri   +3 more
openaire   +2 more sources

Septin 9 has Two Polybasic Domains Critical to Septin Filament Assembly and Golgi Integrity

iScience, 2019
Summary: Septins are GTP-binding proteins involved in several membrane remodeling mechanisms. They associate with membranes, presumably using a polybasic domain (PB1) that interacts with phosphoinositides (PIs).
Mohyeddine Omrane, Amanda Souza Camara, Cyntia Taveneau, Nassima Benzoubir, Thibault Tubiana, Jinchao Yu, Raphaël Guérois, Didier Samuel, Bruno Goud, Christian Poüs, Stéphane Bressanelli, Richard Charles Garratt, Abdou Rachid Thiam, Ama Gassama-Diagne   +13 more
doaj   +1 more source