Results 101 to 110 of about 18,239 (220)

A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family [PDF]

International Journal of Ophthalmology, 2019
AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration.
Ping-Bo Ouyang, Yuan Zhao, Ying-Qian Peng, Lu-Si Zhang, Jian Cao, Yun Li   +5 more
doaj   +1 more source

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries [PDF]

, 2017
Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial ...
Broekelmann, Thomas J, Chu, Mon-Li, Halabi, Carmen M, Lee, Vivian S, Lin, Michelle, Mecham, Robert P   +5 more
core   +3 more sources

Heat Shock Transcription Factor OsHsfc1a Enhances Rice Seedling Thermotolerance by Regulating OsMFT1 and Preserving Chloroplast Structure Under Heat Stress

Plant Biotechnology Journal, EarlyView.
ABSTRACT High‐temperature stress severely threatens rice (Oryza sativa L.) growth and productivity, particularly during the seedling stage, making heat tolerance an essential breeding target. In this study, we identified the heat shock transcription factor OsHsfc1a as a positive regulator of thermotolerance in rice seedlings.
Jingqin Lu, Junyu Chen, Hong Chen, Ziqiang Fan, Lin Lin, Chuanhe Liu, Xiaoxian Wu, Jilei Huang, Zhenlan Liu, Jing Li, Chuxiong Zhuang, Shaoyan Zheng   +11 more
wiley   +1 more source

A Chemical Probe for Increasing Leaf Tocopherol Levels by Coordinated Modulation of Biosynthesis, Competition and Storage

Plant Biotechnology Journal, EarlyView.
ABSTRACT Plant biofortification with phytonutrients typically relies on metabolic engineering strategies known as ‘push’ (enhancing biosynthetic flux), ‘block’ (inhibiting competing pathways) and ‘pull’ (promoting metabolite storage). Here, we describe a novel synthetic compound, X57, that simultaneously targets biosynthesis, competition and storage to
Pablo Perez‐Colao, Gaetan Glauser, Jacobo Cruces, Jorge Lozano‐Juste, Manuel Rodriguez‐Concepcion   +4 more
wiley   +1 more source

Dill extract induces elastic fiber neosynthesis and functional improvement in the ascending aorta of aged mice with reversal of age-dependent cardiac hypertrophy and involvement of lysyl oxidase-like-1 [PDF]

, 2020
Elastic fibers (90% elastin, 10% fibrillin-rich microfibrils) are synthesized only in early life and adolescence mainly by the vascular smooth muscle cells through the cross-linking of its soluble precursor, tropoelastin.
Boyle, Walter A, Boëté, Quentin, Cenizo, Valérie, Faury, Gilles, Fhayli, Wassim, Jacob, Marie-Paule, Kihal, Nadjib, Sommer, Pascal   +7 more
core   +3 more sources

Tobamoviruses CP Proteins Hijack Light‐Induced Protein (NbLIP1) to Promote Viral Replication by Facilitating VRO Formation

Plant Biotechnology Journal, EarlyView.
ABSTRACT Tobamoviruses establish viral replication organelles (VROs) on the host endoplasmic reticulum (ER) for their replication, a process demanding substantial different types of lipids. However, how viruses efficiently transfer these lipids from other compartments like chloroplasts remains incompletely understood.
Haoyu Chen, Mingjie Wu, Xiao Guo, Hongmei Xu, Chenwei Feng, Duxuan Liu, Jing Hua, Yanhong Hua, Zhen He, Peter Moffett, Kun Zhang   +10 more
wiley   +1 more source

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]

, 2019
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré, De Backer, Julie, De Groote, Katya, De Wilde, Hans, De Wolf, Daniël, Dhondt, Karlien, Hertegonne, Katrien, Jordaens, Luc, Muiño Mosquera, Laura   +8 more
core   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 346, Issue 2, Page 107-127, March 2026.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Isolated aortic root dilation in homocystinuria [PDF]

, 2017
BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Davison, JE, Elliott, PM, Guha, N, Kemp, H, Lachmann, R, Lorenzini, M, Murphy, E, Pandya, B, Pitcher, A   +8 more
core   +2 more sources

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, Volume 94, Issue 3, Page 853-870, March 2026.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 more
wiley   +1 more source