Results 81 to 90 of about 9,471 (216)

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

BMC Medical Genomics
Background Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecular genetic testing for the FBN1
Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen, Yan’an Wu   +7 more
doaj   +1 more source

A Hydrodynamic Bioreactor for High‐Yield Production of Extracellular Vesicles from Stem Cell Spheroids with Defined Cargo Profiling

Advanced Science, Volume 13, Issue 10, 18 February 2026.
This study harnesses hydrodynamic flows to generate, confine and stimulate stem cell spheroids, enabling the large‐scale production of extracellular vesicles (EVs). This innovative method not only streamlines spheroid formation and subsequent EV release in a single, integrated process, but also ensures the generation of EVs with enhanced biological ...
Solène Lenoir, Elliot Thouvenot, Giacomo Gropplero, Léonie Dec, Damarys Loew, Clotilde Théry, Jose E Perez, Claire Wilhelm   +7 more
wiley   +1 more source

Evaluation of asprosin levels in growth hormone-deficient children [PDF]

Journal of Krishna Institute of Medical Sciences University
Background: Growth Hormone Deficiency (GHD) in children is a rare endocrine condition characterized by a low GH secretion that minimizes the secretion of growth factors such as Insulin-Like Growth Factor-I (IGF-I).
Safaa Ehssan Atta, Marwa Ali Hadi, Omar Yasir Shakir, Karam Gharab, Isam Noori Salman   +4 more
doaj  

Autocrine Netrin‐1 Signaling in Hepatic Stellate Cells Drives Liver Fibrosis and Diet‐Induced Metabolic Dysfunction‐Associated Steatohepatitis in Mice

Advanced Science, Volume 13, Issue 10, 18 February 2026.
Netrin‐1 expression is upregulated in hepatic stellate cells (HSCs) during metabolic dysfunction–associated steatohepatitis and injury‐mediated liver fibrosis. Secreted Netrin‐1 establishes an autocrine positive feedback loop by binding to UNC5B receptors on HSCs.
Jiahui Zhao, Yajie Peng, Hongyan Lei, Tianyi Wang, Huajuan Wang, Bo Wang, Jin Li, Xiaoying Li, Xuelian Xiong   +8 more
wiley   +1 more source

Transcriptome Differentiation of Wild and Hatchery‐Reared Gibelion catla Fish in Bangladesh

Aquaculture, Fish and Fisheries, Volume 6, Issue 1, February 2026.
ABSTRACT Transcriptome differences between wild and hatchery‐reared Gibelion catla collected from Halda (HL) and Padma River (PD) as wild and a hatchery (HR) population in Bangladesh were identified in this study. A total of 6780 differentially expressed genes (DEGs) in HL compared to HR indicated significant variations in gene expression consistent ...
Shumaya Shafrin, Md. Alamgir Kabir, Md. Golam Rabbane   +2 more
wiley   +1 more source

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Molecular Genetics & Genomic Medicine, 2019
Background Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF‐β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes.
Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri   +7 more
doaj   +1 more source

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature

American Journal of Human Biology, Volume 38, Issue 2, February 2026.
ABSTRACT Objective To characterize the metacarpophalangeal pattern profile (MCPP) of healthy children and adolescents from São Paulo, Brazil, and to establish percentile curves by chronological age (CA), bone age (BA), and sex using the LMS method. Additionally, to compare these findings with previous population‐based data and to apply the derived ...
Marcelo Damaso Maruichi, Bruno Telma Destailleur, Giulia Maesta Apelbaum, Carlos Alberto Longui, Cristiane Kochi   +4 more
wiley   +1 more source

Síndrome de Marfan, mutaciones nuevas del gen FBN1

Iatreia, 2014
Marfan syndrome (SM) is a systemic disorder caused by mutations in the extracellular matrix protein fibrillin 1 (FBN1). With a dominant autosomal pattern, SM patients are characterized by ocular, cardiovascular and skeletal involvement, all within a variable clinical spectrum.
Juan Sebastian Muñoz, Wilmar Saldarriaga Gil, Carolina Isaza de Lourido   +2 more
openaire   +1 more source

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Fibre Type–Specific Proteomics Reveals Shared and Distinct Skeletal Muscle Adaptations to Resistance Training and Beta2‐Adrenergic Agonist

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Skeletal muscle is essential for metabolic health and physical function. While resistance training promotes muscle hypertrophy, alternative therapeutic strategies are needed for individuals unable to engage in physical activity. Because beta2‐adrenergic stimulation induces muscle growth without mechanical load, we assessed muscle ...
Søren Jessen, Andrea Di Credico, Roger Moreno‐Justicia, Lukas Moesgaard, Anders Lemminger, Ben Stocks, Angela Di Baldassarre, Jens Bangsbo, Atul S. Deshmukh, Morten Hostrup   +9 more
wiley   +1 more source