Results 61 to 70 of about 3,283 (186)

Selenoprotein H Functions as a PPARα Coactivator to Link Selenium Homeostasis to Hepatic Lipid Metabolism and Protect against Steatohepatitis

Advanced Science, Volume 13, Issue 22, 17 April 2026.
Our study identifies selenium deficiency as a hallmark of MASH pathogenesis. Dietary selenium supplementation enhances hepatic fatty acid oxidation (FAO) and attenuates MASH progression by activating the PPARα pathway via selenoprotein H (SELENOH). This selenium‐SELENOH‐PPARα nexus redefines the functional scope of selenoproteins, moving from redox ...
Yuwei Zhang, Yuchen Wang, Binbin Li, Xin Li, Chenyu Liu, Yanhao Chen, Cheng Tian, Dongmei Wang, Xiaosong Gu, Chunping Jiang, Yuda Wei, Qiurong Ding   +11 more
wiley   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, Volume 109, Issue 4, Page 730-741, April 2026.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Clinical diagnostics of fibrillinopathies (type 1)

Российский кардиологический журнал, 2013
Diagnostic criteria are presented for the syndromes related to mutations of fibrillin gene type 1 (such as Marfan syndrome, ectopia lentis, MASS phenotype, mitral valve prolapse syndrome, stiff skin syndrome, Shprintzen-Goldberg syndrome) and for the ...
E. L. Trisvetova
doaj   +1 more source

Targeting MGAT4A‐Mediated N‐Glycosylation as a Therapeutic Strategy to Inhibit Glioblastoma Stem Cell Invasion

Exploration, Volume 6, Issue 1, February 2026.
ABSTRACT Glioblastoma (GBM) is the most aggressive type of primary brain tumor, and its invasive properties contribute significantly to incomplete surgical resection and tumor recurrence. Despite extensive clinical efforts to mitigate GBM invasion, targeted therapies against GBM stem cells (GSCs), which drive invasion, remain incompletely understood ...
Rui Niu, Meichen Liu, Qingshan Yang, Jinlong Yin   +3 more
wiley   +1 more source

Ocular Ultrasound in Clinical Practice: Diagnostic Applications, Pitfalls, and Future Directions

Clinical Neuroimaging, Volume 3, Issue 1, 2026.
ABSTRACT Ocular ultrasound (OUS) has become an essential diagnostic modality, enabling noninvasive imaging of intraocular and orbital structures. OUS is particularly valuable in emergency medicine, ophthalmology, and critical care, facilitating rapid diagnosis of acute vision loss and other systemic diseases. This review covers the ultrasound technique,
Chail Shah, David Brown, Rakesh Shetty Rajalbandi, Parth Upadhyaya   +3 more
wiley   +1 more source

Variation of visual acuity in young patients with ectopia lentis submitted to surgery

, 2005
PURPOSE: To assess the results as to visual acuity of two different surgical procedures for ectopia lentis. METHODS: Fifty-one eyes of 28 patients (16 males and 12 females, mean age 16.00± 8.5) with simple (19 cases) or Marfan syndrome-associated (9 ...
Cohen, Ralph [UNIFESP], Cohen, Ralph, Almeida, Geraldo Vicente de, Almeida, Geraldo Vicente De [UNIFESP], Abujamra, Suel, Waiswol, Mauro   +5 more
core   +1 more source

The Proinflammatory Secretome of Senescent Cells Can Be Controlled by a HIF2A‐Dependent Upregulation and a FURIN‐Dependent Cleavage of the ANGPTL4 Secreted Factor

Aging Cell, Volume 25, Issue 1, January 2026.
This article supports that ANGPTL4 secreted factor is induced transcriptionally and activated by proteolytic cleavage during senescence, contributing to the production of a pro‐inflammatory SASP. In the senescent cell microenvironment, ANGPTL4 could thus contribute to senescence‐dependent alterations such as inflammation and tumor initiation.
Gabriela Makulyte, Hasan Safwan‐Zaiter, Delphine Goehrig, Anda Huna, Adèle Mangelinck, Takumi Mikawa, Alberta Palazzo, Lyvia Moudombi, Jean‐Jacques Medard, Marie Chanal, Pacôme Lecot, Marie‐Cécile Michallet, Julie Gavard, Serge Adnot, Pierre Dubus, Hiroshi Kondoh, Carl Mann, Nguan Soon Tan, Philippe Bertolino, Jean‐Michel Flaman, David Bernard   +20 more
wiley   +1 more source

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected maternal uncle and maternal great‐aunt.
Breanna Beers, Hamilton Wexler, Gretchen MacCarrick, Aneek Das Bhowmik   +3 more
wiley   +1 more source

Retropupillary iris-claw intraocular lens in ectopia lentis in Marfan syndrome

, 2016
Mun Yueh Faria,1 Nuno Ferreira,2 Eliana Neto,1 1Vitreo Retinal Department, 2Ophthalmology Department, Santa Maria Hospital, Lisbon, Portugal Objective: To report visual outcomes, complication rate, and safety of retropupillary iris-claw intraocular lens (
Faria MY, Ferreira N, Neto E
core  

Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly

Genetics Research , Volume 2026, Issue 1, 2026.
Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis. It shares overlapping features with Marfan syndrome (MFS).
Juan Zhao, Xiaolan Zhong, Lijun Du, Shaoqing Jiang, Ping Fang, Kexin Ruan, Sujian He, Guanghong Li, Hui Li, Haiming Yuan, Neetu Rawal   +10 more
wiley   +1 more source