Results 81 to 90 of about 2,855 (182)

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly [PDF]

, 2016
BackgroundCongenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide.
Yun Chen, Qinzhao Yuan, Yu, Baofeng, Jinjie Xue, Shi, Yaping, Xie, Jun, Yaping Shi, Chunying Song, Guo, Xingping, Huaixiu Wang, Yanan Yuan, Xinmin Li, Meng, Weijing, Qi, Lixin, Jun Xie, Yunxia Liang, Baofeng Yu, Li, Hongxia, Xingping Guo, Liang, Yunxia, Song, Chunying, Yuan, Yanan, Wang, Huaixiu, Xue, Jinjie, Chen, Yun, Li, Xinmin, Weijing Meng, Yuan, Qinzhao, Hongxia Li, Lixin Qi   +29 more
core   +2 more sources

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

Plant Biotechnology Journal, Volume 24, Issue 4, Page 2204-2219, April 2026.
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

Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population

Arthritis Research & Therapy, 2020
Background Differences in the expression of variants across ethnic groups in the systemic lupus erythematosus (SLE) patients have been well documented. However, the genetic architecture in the Thai population has not been thoroughly examined.
Pattarin Tangtanatakul, Chisanu Thumarat, Nusara Satproedprai, Punna Kunhapan, Tassamonwan Chaiyasung, Siriwan Klinchanhom, Yong-Fei Wang, Wei Wei, Jeerapat Wongshinsri, Direkrit Chiewchengchol, Pongsawat Rodsaward, Pintip Ngamjanyaporn, Thanitta Suangtamai, Surakameth Mahasirimongkol, Prapaporn Pisitkun, Nattiya Hirankarn   +15 more
doaj   +1 more source

Decoding Human Placental Cellular and Molecular Responses to Obesity and Fetal Growth

Advanced Science, Volume 13, Issue 17, 23 March 2026.
Women with obesity often deliver large‐for‐gestational‐age (LGA) infants. Single‐nucleus RNA sequencing of term placenta reveals that hypoxia and TNF‐α signaling in syncytiotrophoblasts are featured in maternal obesity, but inflammatory signatures in Hofbauer cells and response to lipid or carbohydrate metabolism in fibroblasts are specific to LGA.
Hong Jiang, Emilie Derisoud, Denise Parreira, Nayere Taebnia, Paulo R. Jannig, Reza Zandi Shafagh, Allan Zhao, Congru Li, Macarena Ortiz, Manuel Alejandro Maliqueo, Elisabet Stener‐Victorin, Volker M. Lauschke, Qiaolin Deng   +12 more
wiley   +1 more source

Limb organ cultures of heterozygous and Fbn2 null forearm muscles.

, 2015
(A) H & E sections of Fbn2 null muscle cultured with or without Noggin (left) and quantitation of myofibers with central nuclei (right). (B) H & E sections of control forearms (Fbn2+/-) cultured with or without BMP-7 (left) and quantitation of myofibers ...
Francesco Ramirez (22223), Valerie Carlberg (761367), Eric J. Carlson (189254), Douglas R. Keene (46430), Lynn Y. Sakai (189267), Sara F. Tufa (189251), Noe L. Charbonneau (189257), Silvia Smaldone (22222), Gerhard Sengle (189245)   +8 more
core   +1 more source

Treg cells retain stable lineage commitment during pregnancy in mice after late gestation inflammatory challenge

Immunology &Cell Biology, Volume 104, Issue 3, Page 276-311, March 2026.
In this study, we used Foxp3‐fatemapping mice to examine the cell lineage stability of Treg cells in pregnancy. Ex‐Foxp3 cells were identified in gestational tissues. However, Treg cells retained lineage stability with no increased ex‐Foxp3 generation, regardless of inflammatory challenges that induce preterm birth.
Kerrie L Foyle, Ella S Green, Jessie R Walker‐Rogers, Ha M Tran, David M Olson, Lachlan M Moldenhauer, Sarah A Robertson   +6 more
wiley   +1 more source

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. [PDF]

, 2008
Contains fulltext : 81654.pdf (Publisher’s version ) (Closed access)Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears ...
Magnus Landgren, De Paepe, Anne M., Hester Y. Kroes, Michael Pope, Kingston, Helen, De Paepe, Anne, Anna Ficcadenti, Orazio Gabrielli, De Backer, Julie, Francisco Galán, Kroes, Hester Y, Callewaert, Bert L., Landgren, M., Callewaert, Bert, Loeys, Bart, LOEYS BL, Marielle E. Swinkels, Bart L. Loeys, Helen Kingston, Gabreilli, Orazio, Nathalie Van der Aa, Loeys, B.L., Salcedo, I., Coucke, Paul J., FICCADENTI A, Paepe, A.M. De, Foulds, N., Yaron, Y., Pope, M., Ficcadenti, Anna, Sascha Vermeer, Swinkels, M.E., Backer, J. de, Paul J. Coucke, Vermeer, S., Pope, Michael, Van der Aa, Nathalie, Loeys, Bart L., Landgren, Magnus, Swinkels, Marielle E., Carina Wallgren-Pettersson, Iratxe Salcedo, Kroes, H.Y., Boute, O., CALLEWAERT BL, Odile Boute, Aa, N. van der, Nicola Foulds, Swinkels, Marielle E, Bert L. Callewaert, Foulds, Nicola, Gabrielli, Orazio, Kingston, H., Callewaert, B.L., Wallgren-Pettersson, Carina, Ficcadenti, A., Galan, F., Gabrielli, O., Yuval Yaron, Anne M. De Paepe, Kroes, Hester Y., Coucke, Paul, Coucke, P.J., Boute, Odile, Salcedo, Iratxe, Julie De Backer, Galán, Francisco, Vermeer, Sascha, Yaron, Yuval, Wallgren-Pettersson, C.   +69 more
core   +1 more source

Bacterial porphyrins in healthy skin: Microbiota components impact melanogenesis and age‐related processes leading to Porphyr'ageing

International Journal of Cosmetic Science, Volume 48, Issue 1, Page 186-199, February 2026.
Porphyrins, previously linked only to acne inflammation, are now implicated in skin ageing. Their presence correlates with increased melanin, inflammation, and oxidative stress, contributing to premature ageing signs. This study introduces the concept of “Porphyr'ageing,” highlighting the detrimental effects of bacterial metabolites on skin health and ...
Marie Meunier, Morgane De Tollenaere, Cyrille Jarrin, Emilie Chapuis, Marine Bracq, Laura Lapierre, Catherine Zanchetta, Jean Tiguemounine, Amandine Scandolera, Romain Reynaud   +9 more
wiley   +1 more source

Chloroplast Fibrillin‐Mediated α‐Tocopherol Biosynthesis Impaired by a Virus to Enhance Infection and to Improve Drought Tolerance

Advanced Science, Volume 13, Issue 3, 14 January 2026.
ToCV‐encoded p22 targets chloroplast plastoglobules (PGs) via directly binding PG structural protein FBN1.1, reducing the size of PG and inhibiting α‐tocopherol biosynthesis via competing with tocopherol cyclase (VTE1). Consequently, the elevated chloroplast ROS not only creates a suitable cellular environment for efficient ToCV infection but also ...
Sijia Liu, Xuedong Liu, Qin Yan, Xi Chen, Lianyi Zang, Jingang Hu, Xiaoping Zhu, Zaifeng Fan, Tao Zhou   +8 more
wiley   +1 more source

Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice

G3: Genes, Genomes, Genetics, 2018
Positional cloning of ENU-induced mutations has traditionally relied on analysis of polymorphic variation between two strains. In contrast, the application of whole-genome sequencing (WGS) has enabled gene discovery in mutant lines maintained on an ...
Krista A. Geister, Andrew E. Timms, David R. Beier   +2 more
doaj   +1 more source