Results 91 to 100 of about 9,471 (216)

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

BMC Medical Genetics, 2011
Background Connective tissue diseases characterized by aortic aneurysm, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers Danlos syndrome type IV are heterogeneous and despite overlapping phenotypes, the natural history, clinical manifestations ...
Lewis Tracey, Yetman Angela T, Rope Alan F, Wooderchak-Donahue Whitney, Furtado Larissa V, Plant Parker, Bayrak-Toydemir Pinar   +6 more
doaj   +1 more source

Geleophysic dysplasia caused by a mutation in FBN1: A case report

, 2021
Tao Ying, Qing Wei, Xun Chen, Guangmin Nong   +3 more
openalex   +1 more source

Integrated multi‐omics analysis reveals metabolic reprogramming as a key driver of angiotensin II‐induced vascular remodeling

VIEW, Volume 7, Issue 1, February 2026.
This study investigates the molecular alterations underlying angiotensin II (Ang II)‐induced vascular remodeling in cardiovascular diseases using a multi‐omics approach. Through data exploration and integrated multi‐omics analysis, our findings reveal that Ang II‐driven vascular injury in vascular smooth muscle cells is mediated by metabolic ...
Yiwei Hu, Dan Zhao, Lingyan Zhong, Jianxujie Zheng, Dongxue Zhang, Enhui Wu, Qian Shi, Liang Qiao, Ling Lin   +8 more
wiley   +1 more source

Deciphering the Transcriptomic Signatures of Aging Across Organs in Mice

Aging Cell, Volume 25, Issue 2, February 2026.
Comprehensive transcriptomic profiling of eight mouse organs across six ages reveals how aging reshapes biological processes. Trajectory and network analyses distinguish shared and organ‐specific signatures, charting the molecular landscape of systemic aging.
Sarah Morsy, Enzo Scifo, Kan Xie, Kristina Schaaf, Jenny Russ, Stefan Paulusch, Elena De Domenico, Paolo Salomoni, Daniele Bano, Dan Ehninger   +9 more
wiley   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta [PDF]

, 2015
Vaiva Lesauskaitė, Ramunė Šepetienė, Giedrė Jarienė, Vaiva Patamsytė, Giedrius Žukovas, Ingrida Grabauskytė, Zita Stanionienė, Raimondas Širmenis, Rimantas Benetis   +8 more
openalex   +1 more source

Liquid–Liquid Phase Separation in Major Hallmarks of Cancer

Cell Proliferation, Volume 59, Issue 2, February 2026.
Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie, Ting Wang, Xin‐ran Liu, Yan Wang, Qin Dang, Tian Ding, Jia‐qi Xu, Xian‐jun Yu, Hai Lin, Xiao‐wu Xu, Yi Qin   +10 more
wiley   +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

Síndrome de Marfan, mutaciones nuevas y modificadoras del gen FBN1: new mutations of the FBN1 gene

, 2014
El síndrome de Marfan (SM) es un trastorno sistémico causado por mutaciones en la proteína de la matriz extracelular fibrilina 1 (FBN1). Con un patrón de herencia autosómico dominante, los pacientes se caracterizan por presentar compromiso ocular, cardiovascular y esquelético dentro de un espectro clínico variable.
Muñoz Sandoval, Juan, Saldarriaga-Gil, Wilmar, Isaza de Lourido, Carolina   +2 more
openaire   +1 more source

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 [PDF]

, 2022
Alistair T. Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Amaka C Offiah, Mohamed Wafik, Sarju Mehta, Mohammed K Javaid, Sarah Smithson, Jenny C. Taylor, Jenny C Taylor   +10 more
openalex   +1 more source