Browsing Centre for Cell Biology and Cutaneous Research by Title
Now showing items 223-242 of 375
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Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4
(2014-01-01)ABCB4 flops phosphatidylcholine into the bile canaliculus to protect the biliary tree from the detergent activity of bile salts. Homozygous-null ABCB4 mutations cause the childhood liver disease, progressive familial ... -
Molecular Modeling Studies to Probe the Binding Hypothesis of Novel Lead Compounds against Multidrug Resistance Protein ABCB1.
(2024-01-16)The expression of drug efflux pump ABCB1/P-glycoprotein (P-gp), a transmembrane protein belonging to the ATP-binding cassette superfamily, is a leading cause of multidrug resistance (MDR). We previously curated a dataset ... -
Monocyte gene-expression profiles associated with childhood-onset type 1 diabetes and disease risk: a study of identical twins.
(2010-07)OBJECTIVE: Monocytes in childhood-onset type 1 diabetes show distinct gene expression. We hypothesize that monocyte activation in monozygotic (MZ) twin pairs discordant for childhood-onset type 1 diabetes could reflect ... -
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
(2016-04)Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and ... -
A multidimensional systems biology analysis of cellular senescence in aging and disease.
(BioMed Central, 2020-04-07)BACKGROUND: Cellular senescence, a permanent state of replicative arrest in otherwise proliferating cells, is a hallmark of aging and has been linked to aging-related diseases. Many genes play a role in cellular senescence, ... -
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria.
(2004-06-22)BACKGROUND: Mutations in the gene coding for the RNA component of telomerase, hTERC, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia. Paroxysmal nocturnal hemoglobinuria (PNH) is a ... -
n-3 Docosapentaenoic acid-derived protectin D1 promotes resolution of neuroinflammation and arrests epileptogenesis.
(2018-11-01)Epilepsy therapy is based on drugs that treat the symptoms rather than the underlying mechanisms of the disease (epileptogenesis). There are no treatments for preventing seizures or improving disease prognosis, including ... -
n-3 Docosapentaenoic acid-derived protectin D1 promotes resolution of neuroinflammation and arrests epileptogenesis.
(Oxford University Press, 2018-10-10)Epilepsy therapy is based on drugs that treat the symptoms rather than the underlying mechanisms of the disease (epileptogenesis). There are no treatments for preventing seizures or improving disease prognosis, including ... -
Nationwide Incidence of Metastatic Cutaneous Squamous Cell Carcinoma in England.
(2019-03-01)Importance: Cutaneous squamous cell carcinoma (cSCC) is the most common skin cancer with metastatic potential, but epidemiologic data are poor. Changes to the National Cancer Registration and Analysis Service (NCRAS) in ... -
The "Needle-splint" Technique: A Method of Accurate Apposition and Eversion during Microvascular Anastomosis.
(Published by Wolters Kluwer Health, Inc. on behalf of The American Society of Plastic Surgeons., 2020-01-17)We present the "needle-splint" technique, a microsurgical suturing technique that enhances micro-suturing technique, while ensures finer apposition and vessels walls eversion during the placement of sutures in microvascular ... -
Neuropilin-1 Controls Endothelial Homeostasis by Regulating Mitochondrial Function and Iron-Dependent Oxidative Stress.
(Elsevier/Science Direct, 2019-01-25)The transmembrane protein neuropilin-1 (NRP1) promotes vascular endothelial growth factor (VEGF) and extracellular matrix signaling in endothelial cells (ECs). Although it is established that NRP1 is essential for angiogenesis, ... -
New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
(2016-07)GAPO syndrome is a very rare genetic disorder characterized by growth retardation, alopecia, pseudoanodontia and progressive optic atrophy (GAPO). To date, only 30 cases have been described worldwide. Recently, gene ...