Results 71 to 80 of about 10,344 (220)

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review

, 2022
Marfan syndrome (MFS) is a life-threatening autosomal dominant genetic disorder of connective tissue caused by the pathogenic mutation of FBN1. Whole exome sequencing and Sanger sequencing were performed to identify the pathogenic mutation.
Wang, James Jiqi, Wang, Dao Wen, Xiuli Song, Yang Sun, Sun, Yang, Yu, Bo, Bo Yu, Dao Wen Wang, Zongzhe Li, James Jiqi Wang, Song, Xiuli, Li, Zongzhe   +11 more
core   +1 more source

Next‐Generation Surgery: Integrating Artificial Intelligence, Genetic Technologies, Bioengineering and Rehabilitation Into Modern Practices

Exploration, EarlyView.
This graphic abstract depicts the convergence of artificial intelligence, genetic technologies, bioengineering, and rehabilitation as the core pillars of next‐generation surgery. These domains collectively enhance preoperative planning, intraoperative precision, tissue reconstruction, and postoperative recovery, driving a paradigm shift toward ...
Dengxiong Li, Jie Wang, Zhipeng Wang, Ruicheng Wu, Zhouting Tuo, Fanglin Shao, Wenjing Ge, Ziyu Shu, Yubo Yang, Dilinaer Wusiman, Qingxin Yu, Luxia Ye, Alisha Pati‐Alam, Facai Zhang, Koo Han Yoo, Susan Heavey, William C. Cho, Dechao Feng   +17 more
wiley   +1 more source

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome

, 2015
Background Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders.
Benedicte Paus, Svend Rand-Hendriksen, Rand-Hendriksen, Svend, Paus, Benedicte, Geiran, Odd, Silja Svanstrøm Amundsen, Barøy, Tuva, Lena Tjeldhorn, Odd Geiran, Eirik Frengen, Frengen, Eirik, Tuva Barøy, Tjeldhorn, Lena, Amundsen, Silja S   +13 more
core   +1 more source

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, EarlyView.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Genetic testing for Marfan syndrome

The EuroBiotech Journal, 2018
Marfan syndrome (MFS) is an inherited connective tissue disorder caused by heterozygous mutations in the FBN 1 gene. Clinical manifestations of MFS include aortic dilatation and dissection, as well as cardiac valvular, ocular, skeletal and neurological ...
Rakhmanov Yeltay, Maltese Paolo Enrico, Marinelli Carla, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo   +6 more
doaj   +1 more source

Algunas consideraciones sobre el síndrome de Marfan ligado al gen FBN1 [PDF]

, 2023
Marfan syndrome is a rare autosomal dominant disease due to changes in the FBN1 gene that develops with cardiovascular (aortic root dilatation is evident), ocular (lens dislocation is typical, although the most recurrent is myopia) and musculoskeletal ...
Enrriquez-Grijalva, Mauricio Fernando, Jami-Carrera, Jeanneth Elizabeth, Morocho-Quinchuela, Flor Betzabet   +2 more
core  

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Difficulties in diagnosing Marfan syndrome using current FBN1 databases [PDF]

Genetics in Medicine, 2016
The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. As genetic sequencing becomes better, cheaper, and more accessible, the expected increase in the number of genetic tests will become evident, resulting in numerous genetic variants that need to be evaluated for disease-causing effects ...
Groth, Kristian A, Gaustadnes, Mette, Thorsen, Kasper, Østergaard, John R, Jensen, Uffe Birk; id_orcid 0000-0002-6205-6355, Gravholt, Claus H; id_orcid 0000-0001-5924-1720, Andersen, Niels Holmark   +6 more
openaire   +2 more sources

Comprehensive Quantification of Oligoasthenozoospermia Induced by Obesity, Reproductive Toxicants, and Their Combination in Rat Models

Andrology, EarlyView.
ABSTRACT Background Oligoasthenozoospermia is a leading cause of male infertility and has been increasingly associated with the global surge in obesity and exposure to reproductive toxicants. Despite extensive research on each factor individually, their combined pathological effects remain poorly understood.
Yunlong Yao, Xi Zhang, Lingru Li, Yunzhi Zhang, Shuo Huang, Yulin Zong, Mingrui Li, Fufangyu Zhao, Linghui Zhu, Tianxing Li, Wenlong Sun, Mingyan Shao, Yanfei Zheng   +12 more
wiley   +1 more source