Results 51 to 60 of about 193,234 (311)

Capillary Malformation-Arteriovenous Malformation Syndrome with Spinal Involvement

, 2014
Capillary malformation-arteriovenous malformation (CM-AVM) is a recently identified autosomal dominant disorder. Arteriovenous lesions have been reported in the brain, limbs, and face.
YİŞ, ULUÇ, MEN, SÜLEYMAN, GÜLERYÜZ UÇAR, HANDAN, Kurul, Semra H.   +3 more
core   +1 more source

Intra-mitochondrial glycolysis maintains mitochondrial function and underlies the pathogenesis of retinitis pigmentosa

Nature Communications
Glycolysis is classically defined as a cytoplasmic process. Here, in our investigation of mitochondrial dysfunction in Retinitis Pigmentosa (RP), we report the unexpected discovery of a complete and functional glycolytic pathway operating inside ...
Linghui Kong, Jiajian Liang, Dan Liu, Shanshan Jia, Hui Gu, Yiwen He, Wenting Luo, Songying Cao, Yizhang Dong, Chao Yang, Minghui Liao, Guojia Wan, Bo Du, Dongxue Ding, Wei Ma, Xiaowei Wei, Anhua Wu, Zhengwei Yuan   +17 more
doaj   +1 more source

TNF-α mediated secretory component is positively regulated by PI3K/AKT/mTOR in Caco-2 cells [PDF]

Journal of Medical Biochemistry, 2013
Background: Secretory component (SC) is the extracellular component of the polymeric immunoglobulin receptor (pIgR) that functions as a receptor for externally secreted polymeric immunoglobulins such as secretory IgA.
Liu Dongyan, Wang Si, Jiang Teng, Ding Peng   +3 more
doaj  

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

JIMD Reports, 2022
Objective To report an adolescent with infantile‐onset carnitine palmitoyltransferase 2 (CPT2) deficiency and cerebral malformations and to review the occurrence of brain malformations in CPT2 deficiency.
Ivan Shelihan, Elsa Rossignol, Jean‐Claude Décarie, Jean‐Paul Bonnefont, Michèle Brivet, Catherine Brunel‐Guitton, Grant A. Mitchell   +6 more
doaj   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

Lysyl oxidase (LOX)‐mediated remodeling of the extracellular matrix

FEBS Letters, EarlyView.
The lysyl oxidase (LOX) family of enzymes drives extracellular matrix remodeling by oxidizing collagen, elastin, and fibronectin, promoting covalent cross‐link formation. This activity regulates tissue architecture and mechanical properties, while its dysregulation contributes to fibrosis, cardiovascular disease, glaucoma, connective tissue disorders ...
Fernando Rodríguez‐Pascual, Marta Navarro‐Gutiérrez, Verónica Romero‐Albillo, Raquel Jiménez‐Sánchez   +3 more
wiley   +1 more source

Arteriovenous uterine malformation: case report [PDF]

, 2019
The case of a 49-year-old patient is reported, with a particular history of obstetric risk, who presented with severe transvaginal hemorrhage, was performed doppler arteriography and ultrasound, finding data suggestive of arteriovenous uterine ...
Hernandez Flores, Sara E., Rafaelano Miranda, Alexander J., Huerta, Angel Lemus, Alvarez, Tania P., Lara Sánchez, Raúl D., Bizuet Cabrera, Jose M.   +5 more
core   +1 more source

Advancements in Pathogenic Genes and Biomarkers for Non-syndromic Cleft Lip With or Without Cleft Palate Via Multiomics

International Dental Journal
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common congenital malformation influenced by a combination of environmental and genetic factors.
Chunqing Yang, Ling Ding, Yizhang Dong, Yu Wang, Songying Cao, Zhengwei Yuan, Shanshan Jia   +6 more
doaj   +1 more source

The Ethanolic Extract of Piper glabratum Kunth Is Teratogenic and Interferes with the Ossification Process of Swiss Mice Fetuses

Pharmaceuticals, 2023
Piper glabratum Kunth is a plant traditionally used to treat pain and inflammation in the Mato Grosso do Sul, Brazil. Even pregnant women consume this plant. Toxicology studies of the ethanolic extract from the leaves of P.
Rogério Carlos Sanfelice Nunes, Silvia Cordeiro das Neves, Fabricia Rodrigues Salustriano, Marcelo Luiz Brandão Vilela, Valter Aragão do Nascimento, Karuppusamy Arunachalam, Roberto da Silva Gomes, Candida Aparecida Leite Kassuya, Jonas da Silva Mota, Rodrigo Juliano Oliveira   +9 more
doaj   +1 more source

Soft motions encoded by the fold and mediated by conserved hinge sites drive V‐ATPase allosteric machinery and autoinhibition

FEBS Letters, EarlyView.
Vacuolar H+‐ATPase (V‐ATPase) is a multisubunit rotary proton pump that acidifies intracellular compartments. Using elastic network models, we identified conserved hinge residues that govern its large‐scale functional motions. We show that intrinsically encoded ‘soft modes’ drive critical functional transitions, including rotary catalysis and ...
Diksha Parwana, Xiaowei Bogetti, Stuti Sharma, Ivet Bahar   +3 more
wiley   +1 more source