Results 111 to 120 of about 75,270 (295)

Carbonic Anhydrase II Deficiency in a Saudi Woman

, 2015
Objective Carbonic anhydrase (CA) II deficiency is a rare autosomal recessive disorder caused by mutation in the CA II gene that leads to osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification.
Safiya M. Sherbeeni, Omar N. Alhuzaim, Ohoud M. Almohareb   +2 more
core   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Osteoarthritis: An Immuno‐Inflammatory Disease‐Mechanisms of Immune Cell Dysregulation and Potential Therapeutic Strategies

Med Research, EarlyView.
This review summarizes the immuno‐inflammatory mechanisms driving the pathogenesis of osteoarthritis (OA), extending beyond the traditional view of OA as a purely degenerative disease to incorporate immune cell infiltration, inflammatory factor release, and the formation of a chronic low‐grade inflammatory microenvironment.
Qingqiang Lei, Xiaoxian Lou, Xu Su, Shubao Liu, Yanli Tong, Jie Chen, Xuerui Chen, Wenjun Mao, Hui Yu, Liangbin Lin   +9 more
wiley   +1 more source

The interaction of inhibitors with carbonic anhydrase

, 1991
The binding of several inhibitors to the metal site of carbonic anhydrase has been investigated through multinuclear ...
I. Bertini, SOLA, Marco, C. Luchinat, L. Banci   +3 more
core  

SEPARATION OF BOVINE LENS CARBONIC ANHYDRASE INTO TWO COMPONENTS

, 1963
Two components of carbonic anhydrase have been separated in partially purified forms from the soluble proteins of bovine lens. During the chromatographic separation on diethylaminoethyl cellulose columns, the total carbonic anhydrase increased, on an ...
Mira Sen, S. M. Drance, V. R. Woodford
core   +1 more source

Proteomic Signatures of Ectopic Fat Distribution: Tissue‐Specific Drivers and Clinical Implications

Med Research, EarlyView.
Integration of plasma proteomics and multi‐organ MRI in 666 UK Biobank participants, combined with a knockoff‐based causal inference and machine learning framework, reveals organ‐specific drivers of ectopic fat: PLA2G1B (pancreas), ERBB2/IGFBP2 (liver), CA14 (muscle), and NCAM2/TNFRSF10B (pericardium). These drivers engage distinct pathways (e.g., PI3K‐
Bing Zhang, Fen Yang, Xingji Lian, Jie He, Shuijin Huang, Mingjuan Fan, Yin Liang, Jiaqiang Huang, LongYan Yin, Hong Wang   +9 more
wiley   +1 more source

Unspecific Molecular Adsorption (UMA) Sample Preparation Method for Bottom‐up and Whole Protein Analysis: The Foundation

PROTEOMICS, EarlyView.
ABSTRACT The protein sample preparation methods for shotgun proteomics are nowadays well‐established unlike the ones for whole protein analysis. The goal of my work has been to create a simple methodology which provides a single uncomplicated sample preparation tool for these two fields. Nowadays the bulk of proteomics work is done using detergents for
Alexandre Zougman
wiley   +1 more source

Gene turnover in the common ancestor of all C4 grasses

PLANTS, PEOPLE, PLANET, EarlyView.
Understanding how plants evolve more efficient photosynthesis is important in a warming world where improving crop productivity and resilience is a global priority. By generating the first reference genomes for an early‐diverging group of grasses called the Aristidoideae, we were able to reconstruct the genetic makeup of the last common ancestor of all
Lara Pereira, Ahmed S. Alenazi, Sahr Mian, Ilia J. Leitch, Pascal‐Antoine Christin, Colin P. Osborne, Luke T. Dunning   +6 more
wiley   +1 more source

Purification, Characterization, cDNA Cloning, and Bioinformatic Analysis of Zinc-Binding Protein from Magallana hongkongensis

Molecules
Oysters contain significant amounts of the zinc element, which may also be found in their proteins. In this study, a novel zinc-binding protein was purified from the mantle of the oyster Magallana hongkongensis using two kinds of gel filtration ...
Citing Chen, Wan Li, Jialong Gao, Wenhong Cao, Xiaoming Qin, Huina Zheng, Haisheng Lin, Zhongqin Chen   +7 more
doaj   +1 more source

Photo‐responsive carbon dots for pyroptosis‐mediated anti‐tumor application

Responsive Materials, EarlyView.
Photo‐responsive CDs generate ROS to induce tumor cell pyroptosis, thereby stimulating antitumor immunity. Abstract Pyroptosis refers to a kind of lytic programmed cell death, characterized by the release of pro‐inflammatory cytokines during the process. Owing to its immune response stimulation ability, pyroptosis has garnered considerable attention in
Lingyun Li, Xue Wu, Zekun Yan, Jun Wu, Caishi Huang, Songnan Qu   +5 more
wiley   +1 more source