Results 101 to 110 of about 15,376 (205)

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

Autoantibodies in systemic sclerosis: unanswered questions [PDF]

, 2015
Systemic sclerosis (SSc) is an autoimmune disease characterized by vascular abnormalities, and cutaneous and visceral fibrosis. Serum autoantibodies directed to multiple intracellular antigens are present in more than 95% of patients and are considered a
Fritzler, Marvin J., Kayser, Cristiane
core   +2 more sources

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Marfan syndrome (MFS) is a dominant monogenic disorder caused by mutations in fibrillin 1 (FBN1). Rarely, compound heterozygosity for FBN1 mutations has been described. Methods A large kindred with MFS was assessed clinically over decades, and
Aideen M. McInerney‐Leo, Jennifer West, Lawrie Wheeler, Paul J. Leo, Kim M. Summers, Lisa Anderson, Matthew A. Brown, Malcolm West, Emma L. Duncan   +8 more
doaj   +1 more source

Using an Unbiased Coexpression Network to Reveal Cross‐Talking Pathways of Phosphoinositide‐3‐Kinase Regulatory Subunit 1 in Skin Aging and Rejuvenation

The FASEB Journal, Volume 40, Issue 2, 31 January 2026.
Mechanistic pathways of PIK3R1 in skin aging and rejuvenation were analyzed by bioinformatics approach and Gene Expression Omnibus database. Compared with young skin, PIK3R1 was differentially expressed in aged and IPL rejuvenated skin. Coexpression and network analyses revealed that PIK3R1 jointly participated in skin aging and rejuvenation via PI3K ...
Zhike Zhou, Sha Sha, Xiangnan Zhou, Chundi He, Ting Xiao, Yan Wu, Fenqin Chen, Le Qu, Hong‐Duo Chen   +8 more
wiley   +1 more source

Extracellular Matrix Molecules Facilitating Vascular Biointegration

Journal of Functional Biomaterials, 2012
All vascular implants, including stents, heart valves and graft materials exhibit suboptimal biocompatibility that significantly reduces their clinical efficacy.
Martin K.C. Ng, Praveesuda Michael, Anna Waterhouse, Steven G. Wise   +3 more
doaj   +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

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Neuroprotection and Axonal Regeneration via ECM‐Mimetic Nanofibers Incorporating Metal–Phenolic Network Nanoparticles Toward Spinal Cord Injury Repair

Advanced Science, Volume 13, Issue 1, 5 January 2026.
Metal–phenolic network (MPN) nanoparticles with neuroprotective functions are integrated into decellularized extracellular matrix (dECM) to obtain biomimetic composite fibrous scaffold MPN@dECM NFs by electrospinning, which protects spared neurons from secondary degeneration by suppressing excitotoxicity and inflammation, and promotes directional ...
Shu Chen, Bixue Wang, Qiya Zhang, Changsheng Liu, Xi Chen   +4 more
wiley   +1 more source

Oxidative stress in the pathogenesis of systemic scleroderma: An overview [PDF]

, 2018
Systemic sclerosis (SSc) is a rare disorder of the connective tissue characterized by fibrosis of the skin, skeletal muscles and visceral organs. Additional manifestations include activation of the immune system and vascular injury. SSc causes disability
Gambardella, Lucrezia, Giovannetti, Antonello, Malorni, Walter, Pietraforte, Donatella, Straface, Elisabetta, Vona, Rosa   +5 more
core   +1 more source

New insights into the structural role of EMILINs within the human skin microenvironment

Scientific Reports
Supramolecular extracellular matrix (ECM) networks play an essential role in skin architecture and function. Elastin microfibril interface-located proteins (EMILINs) comprise a family of three extracellular glycoproteins that serve as essential ...
Alvise Schiavinato, Fady Marcous, Alexandra V. Zuk, Douglas R. Keene, Sara F. Tufa, Laura M. Mosquera, Paola Zigrino, Cornelia Mauch, Beate Eckes, Katrien Francois, Julie De Backer, Nicolas Hunzelmann, Pia Moinzadeh, Thomas Krieg, Bert Callewaert, Gerhard Sengle   +15 more
doaj   +1 more source