Results 161 to 170 of about 9,471 (216)

Quantitative proteomic and glycoproteomic analysis identifies CLCA1, FBN1, and FGB as potential biomarkers for ulcerative colitis. [PDF]

RSC Adv
Wang X, Bo S, Li Q, Li W, Xu L, Hu D, Yang S.   +6 more
europepmc   +1 more source

Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

, 2015
Saied A. Jaradat, Lama Abujamous, Ali Al-Hawamdeh, Khaldoon Alawneh, Tamara A Rawashdeh, Zaher M Jaradat   +5 more
openalex   +1 more source

Table 2_A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene.docx

Manal Irshaid (19770834), Ghadeera Al Mansoori (19770807), Mohamed Sulaiman (6394088), Asjed Mohamed (22549571), Mohammed Abdoh (22549574), Youssef M. Shalaby (18286272), Bashar Al-Zohily (18286275), Aalia Batool (6449624), Sara Aleissaee (22549577), Lara Alzyoud (22549580), Bassam R. Ali (8711034), Muna Al Saffar (22549583), Nadia Akawi (3461522)   +12 more
openalex   +1 more source

Perivascular inflammation in the progression of aortic aneurysms in Marfan syndrome. [PDF]

JCI Insight
Sowa H, Yagi H, Ueda K, Hashimoto M, Karasaki K, Liu Q, Kurozumi A, Adachi Y, Yanase T, Okamura S, Zhai B, Takeda N, Ando M, Yamauchi H, Ito N, Ono M, Akazawa H, Komuro I.   +17 more
europepmc   +1 more source

Exploring thoracic aorta ECM alterations in Marfan syndrome: insights into aorta wall structure. [PDF]

Sci Rep
de Souza RB, Cassiano LL, Barnowski P, Ventura S, Turato WM, Nascimento SCR, Mignanelli GL, Caldeira W, da Fonseca Martins AMCRP, de Carvalho Luposeli F, Laurindo FRM, Reinhardt DP, Sengle G, Koh IHJ, Meek KM, Lewis PN.   +15 more
europepmc   +1 more source

Glucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia. [PDF]

Commun Biol
Morales AA, Camarena V, Walz K, Wang G, Tekin M.   +4 more
europepmc   +1 more source

Beyond COL1A1::PDGFB: Rare fusions and their clinical implications in dermatofibrosarcoma protuberans. [PDF]

World J Clin Cases
Das S, Ahlawat S.
europepmc   +1 more source

ハプロ不全優性遺伝病の発症機序解明に向けた新たなアプローチ:ブタフィブリリン1(Fbn1)のエピジェネティック解析

, 2016
新井良和, 梅山一大, 竹内健太, 八島紗耶香, 中野和明, 長嶋比呂志, 大鐘潤   +6 more
openalex   +1 more source

In Vitro Bioactivity of a Recombinant Human Collagen Peptide in a Filler Biomimetic Skin Model. [PDF]

J Cosmet Dermatol
He C, Wang R, Zhang Q, Wang Y, Huang N.
europepmc   +1 more source

Management of aortic disease in children with FBN1-related Marfan syndrome

Laura Muiño Mosquera, Elena Cervi, Katya De Groote, Wendy Dewals, Zina Fejzic, Kalliopi Kazamia, Sujeev Mathur, Olivier Milleron, Thomas S. Mir, Dorte Guldbrand Nielsen, Michal Odermarsky, Anna Sabaté-Rotés, Annelies E. van der Hulst, Irene Valenzuela, Guillaume Jondeau   +14 more
openalex   +1 more source