Results 31 to 40 of about 10,219 (178)

Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1

Frontiers in Genetics, 2022
Marfan syndrome, an autosomal dominant disorder of connective tissue, is primarily caused by mutations in the fibrillin-1 (FBN1) gene, which encodes the protein fibrillin-1.
Xin Liu, Kaiqing Liu, Danyao Nie, Jing Zhang, Liyun Zhang, Xinhua Liu, Jiantao Wang   +6 more
doaj   +1 more source

A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant

Respiratory Medicine Case Reports, 2023
Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on
Kouko Hidaka, Tetsuichiro Inai, Tomoki Kosho, Tomomi Yamaguchi, Yoshinori Kawabata, Yuko Inai, Shogo Imamura, Sakiko Sanada   +7 more
doaj   +1 more source

Marfan Syndrome: A Case Report and Review of Literature on Multipronged Approach [PDF]

Journal of Clinical and Diagnostic Research
Marfan Syndrome (MFS) is a rare autosomal dominant inherited disorder of connective tissue due to the mutations in the Fibrillin-1(FBN1) gene located on chromosome 15q21.1.
F Massillamani, N Santana Senthilkumar, D Gowsalya, Gc Lalithapriya, G Swetha   +4 more
doaj   +1 more source

Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders [PDF]

Journal of Cell Communication and Signaling, 2020
The extracellular matrix microenvironment of adipose tissue is of critical importance for the differentiation, remodeling and function of adipocytes. Fibrillin-1 is one of the main components of microfibrils and a key player in this process. Furin processing of profibrillin-1 results in mature fibrillin-1 and releases the C-terminal propeptide as a ...
Muthu L. Muthu, Dieter P. Reinhardt
openaire   +2 more sources

Conserved Function of Fibrillin5 in the Plastoquinone-9 Biosynthetic Pathway in Arabidopsis and Rice

Frontiers in Plant Science, 2017
Plastoquinone-9 (PQ-9) is essential for plant growth and development. Recently, we found that fibrillin5 (FBN5), a plastid lipid binding protein, is an essential structural component of the PQ-9 biosynthetic pathway in Arabidopsis.
Eun-Ha Kim, Dae-Woo Lee, Kyeong-Ryeol Lee, Su-Jin Jung, Jong-Seong Jeon, Hyun Uk Kim   +5 more
doaj   +1 more source

Fibrillin-1 Misfolding and Disease

Antioxidants & Redox Signaling, 2006
Fibrillin-1 is a 350 kDa calcium-binding protein which assembles to form 10-12 nm microfibrils in the extracellular matrix (ECM). The structure of fibrillin-1 is dominated by two types of disulfide-rich motifs, the calcium- binding epidermal growth factor-like (cbEGF) and transforming growth factor beta binding protein-like (TB) domains.
Whiteman, P, Hutchinson, S, Handford, P
openaire   +3 more sources

A Disulfide‐Sticker Strategy for Marine Adhesive Coatings: From Deciphering Self‐Assembly Mechanism to Functional Application in Hair Regeneration

Advanced Science, EarlyView.
A disulfide‐sticker strategy, coupled with Ca2+ coordination, drives the hierarchical self‐assembly of a recombinant scallop adhesive protein into fishnet‐like nanostructures, affording a coating with versatile wet adhesion and intrinsic antioxidant activity. This biocompatible coating markedly promotes hair regeneration by activating follicular niches,
Lulu Wang, Juan Yang, Xin Jiang, Zhanghui Zheng, Hongyu Wei, Na Li, Xiangqiang Chu, Weizhi Liu   +7 more
wiley   +1 more source

Chromoplast biogenesis in Chelidonium majus petals

Acta Societatis Botanicorum Poloniae, 2011
The differentiation of chromoplasts, with special emphasis on the formation and the organisation of chromoplast fibrils, was followed in the petals of the greater celandine, Chelidonium majus L.
Nikola Ljubešić, Mercedes Wrischer
doaj   +1 more source

Biomechanical stress provides a second hit in the establishment of BMP/TGFβ-related vascular disorders

Cell Stress, 2020
Cardiovascular disorders are still the leading cause for mortality in the western world and challenge economies with steadily increasing healthcare costs.
Christian Hiepen, Jerome Jatzlau, Petra Knaus   +2 more
doaj   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source