Results 41 to 50 of about 3,094 (152)

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

CircZXDC Promotes Vascular Smooth Muscle Cell Transdifferentiation via Regulating miRNA-125a-3p/ABCC6 in Moyamoya Disease

Cells, 2022
Moyamoya disease (MMD) is an occlusive, chronic cerebrovascular disease affected by genetic mutation and the immune response. Furthermore, vascular smooth muscle cells (VSMCs) and endothelial cells (ECs) participate in the neointima of MMD, but the ...
Yuan Liu, Yimin Huang, Xincheng Zhang, Xiaopeng Ma, Xuejun He, Chao Gan, Xin Zou, Sheng Wang, Kai Shu, Ting Lei, Huaqiu Zhang   +10 more
doaj   +1 more source

A review of xenobiotic membrane transporter expression within the human placenta: Lessons gained from primary tissue and in vitro methodologies

The Journal of Physiology, EarlyView.
Abstract figure legend A summary of the current knowledge around membrane transporter expression in the most widely used in vitro models of human trophoblasts, including primary placental tissue, cancer cell lines and trophoblast stem cells, as well as the techniques to attempt to mimic the human placenta in vivo.
Rhiannon Pass, Kathryn Wolton, Amanda N. Sferruzzi‐Perri   +2 more
wiley   +1 more source

Impact of the C-terminus on ABCC6 degradation.

, 2014
ABCC6 degradation was evaluated after treatment with a proteasome inhibitor (lactacystin) or a combination of lysosomal protease inhibitors, (leupeptin and pepstatin) and assessed by western blotting.
Patrick H. Thibodeau (565940), Chelsea M. Crum (565939), Peng Xue (219948)   +2 more
core   +1 more source

Identification of Crucial Drug Targets and Pathways to Reprogram Drug Resistance Through Epigenetic Modulation in Advanced Lung Cancer Using Integrated Bioinformatics Approach

Computational and Systems Oncology, Volume 6, Issue 1, December 2026.
ABSTRACT Resistance to chemotherapy, which is demonstrated in almost every patient with advanced‐stage lung cancer (ALC), underscores an urgent need to unravel the underlying molecular mechanisms and identify novel strategies to overcome drug resistance. In the present study, an attempt was made to identify epigenetic targets and modulators that can be
Okibur Rahman, Mossammat Rima Akter, Nur Alam   +2 more
wiley   +1 more source

Tissue‐Specific Isolation of Hepatocyte Extracellular Vesicles From Human Plasma Enables Tissue‐Resolved Proteomic and miRNA Profiling

Journal of Extracellular Vesicles, Volume 15, Issue 10, October 2026.
ABSTRACT Tissue‐specific resolution remains a critical barrier in liquid biopsy for precision medicine. To address this, we developed NEXPLOR (Novel EXtracellular vesicle PopuLation Omics Revealer), an immunoaffinity platform enabling selective enrichment of circulating tissue‐specific extracellular vesicles (TS‐EVs), demonstrated here for liver ...
Ricardo Figueiras, Susana Vagueiro, Raissa Kay, Elnaz Persia, Roger de Alwis, Razan Hijazi, Brian Davidson, Kristine von Bargen, Pierre Arsène, Tomás Dias   +9 more
wiley   +1 more source

Pulsed Focused Ultrasound–Mediated Mechanopriming Enhances the Therapeutic Efficacy of Mesenchymal Stromal Cell–Derived Extracellular Vesicles in Acute Respiratory Distress Syndrome

Journal of Extracellular Vesicles, Volume 15, Issue 10, October 2026.
ABSTRACT Extracellular vesicles (EVs) derived from mesenchymal stem or stromal cells (MSCs) have shown therapeutic potential for acute respiratory distress syndrome (ARDS), yet reproducible and scalable methods to enhance EV yield and therapeutic potency remain limited.
Shashank Chetty, Shobha Regmi, Abantika Ganguly, Reza Yarani, Fantahun Biadglegne Degeneh, Rosita Primavera, Jing Wang, Avnesh S. Thakor   +7 more
wiley   +1 more source

Prenatal Diagnosis and Postnatal Follow‐Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
In this prenatal cohort, 16p13.11 microduplication was associated with variable outcomes and incomplete penetrance. Most live‐born children showed mild or no abnormalities, highlighting the need for cautious interpretation and individualized genetic counseling.
Xiaoxiao Lv, Shufei Li, Lili Zhou, Ruipu Wang, Yuan Yu, Chenyang Xu, Xueqin Xu, Xiaohua Tang, Huanzheng Li   +8 more
wiley   +1 more source

Immunofluorescence staining of Abcc6 in the liver of mice.

, 2014
Note positive staining associated with the plasma membranes in C57BL/6J mice (arrowheads) and complete absence of the staining in Abcc6−/− mice. A low, yet detectable level of immunofluorescence was noted in the four other strains which harbor the A ...
John P. Sundberg (112938), Qiaoli Li (277667), Jouni Uitto (307381), Haitao Guo (276341), David W. Chou (524772), Annerose Berndt (283577)   +5 more
core   +1 more source

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

Frontiers in Genetics, 2012
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE).
Yvonne eNitschke, Frank eRutsch
doaj   +1 more source