Results 31 to 40 of about 6,142 (190)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Dual Topical Therapy. The Future of Stretch Marks?

JEADV Clinical Practice, EarlyView.
ABSTRACT Striae distensae, or stretch marks, are linear scars that result from mechanical stretching of dermal tissue. They are most prevalent in women and in pregnancy, puberty, and obesity. The psychological and cosmetic symptoms may present a pathological synergy with the physical distress that stretch marks represent, especially if the patient is ...
Vicente Manuel Cisneros Rosell, Ramon Grimalt   +1 more
wiley   +1 more source

The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis

Experimental Dermatology, 2020
Supramolecular networks composed of fibrillins (fibrillin‐1 and fibrillin‐2) and associated ligands form intricate cellular microenvironments which balance skin homoeostasis and direct remodelling. Fibrillins assemble into microfibrils which are not only
Christin S. Adamo, Alexandra V. Zuk, G. Sengle   +2 more
semanticscholar   +1 more source

Uncoupling TGFβ1 signalling from collagen protein synthesis in Dupuytren's disease

The Journal of Pathology, EarlyView.
Abstract Dupuytren's disease is a fibroproliferative disorder of the palmer fascia (PF) characterised by flexion contractures in the hand. Dupuytren's disease can be treated surgically, but disease recurrence rates are high, potentially due to continual production of matrisomal proteins.
Gabriella Cooper, Jade A Gumbs, Sahem Alkharabsheh, Katie J Lee, Alan Carter, Hannah Coleman, Niamh S O'Heneghan‐Yates, Rama Ijaz, Emma Beamish, Lisa A Menezes, Triantafillos Liloglou, Peter D Clegg, Elizabeth G. Canty‐Laird   +12 more
wiley   +1 more source

Latent Transforming Growth Factor β-binding Protein 1 Interacts with Fibrillin and Is a Microfibril-associated Protein*

Journal of Biological Chemistry, 2003
Latent transforming growth factor β-binding protein 1 (LTBP-1) targets latent complexes of transforming growth factor β to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms.
Z. Isogai, R. Ono, S. Ushiro, D. Keene, Yan Chen, R. Mazzieri, N. Charbonneau, D. Reinhardt, D. Rifkin, L. Sakai   +9 more
semanticscholar   +1 more source

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 more
wiley   +1 more source

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

PLoS ONE, 2019
Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi   +4 more
doaj   +1 more source

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

VIEW, EarlyView.
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

Trichostatin A Sensitizes Tumor Cells to Apoptosis Induced by Soluble Trimeric TRAIL‐Expressing Human Mesenchymal Stromal Cells

Cancer Science, EarlyView.
Human mesenchymal stromal cells (MSCs) were engineered to secrete an isoleucine‐zippered soluble trimeric TRAIL (SCZT) and evaluated with trichostatin A (TSA) to overcome TRAIL resistance. TSA upregulated DR5 and amplified caspase‐8–dependent apoptosis in vitro; in vivo, tumor‐homing MSCs combined with TSA suppressed the growth of both TRAIL‐sensitive ...
Ryosuke Uchibori, Ken Ohmine, Keiya Ozawa   +2 more
wiley   +1 more source