Results 31 to 40 of about 2,722 (177)

Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly

Frontiers in Genetics, 2023
Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li, An-Lei Li, Ji-Qiang He, Ji-Qiang He, Lei Zeng, Lei Zeng, Yi-Qiao Hu, Yi-Qiao Hu, Yi-Qiao Hu, Min Wang, Min Wang, Jie-Yi Long, Si-Hua Chang, Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang   +19 more
doaj   +1 more source

Ocular Phenotype ofFbn2-Null Mice [PDF]

Investigative Opthalmology & Visual Science, 2013
Fibrillin-2 (Fbn2) is the dominant fibrillin isoform expressed during development of the mouse eye. To test its role in morphogenesis, we examined the ocular phenotype of Fbn2(-/-) mice.Ocular morphology was assessed by confocal microscopy using antibodies against microfibril components.Fbn2(-/-) mice had a high incidence of anterior segment dysgenesis.
Yanrong, Shi, Yidong, Tu, Robert P, Mecham, Steven, Bassnett   +3 more
openaire   +2 more sources

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration [PDF]

, 2014
Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular ...
Lotery, A., Ratnapriya, Rinki, Chakarova, C. F., Kim, I. K., Zack, D. J., Park, Kyu Hyung, Conley, Yvette, Klein, R., Othman, Mohammad, Olson, Lana M, Ramke, J., Weeks, Daniel E, Zack, Donald J, Stambolian, D., Allikmets, Rando, Silvestri, Giuliana, Weeks, D. E., Truitt, B. J., Igo, Jr, Robert P, Zipprer, David, Sergeev, Y. V., Scholl, H. P. N., Hagstrom, S. A., Farrer, L. A., Iyengar, S. K., Klein, Ronald, Deangelis, M. M., Maminishkis, A., Li, B., Lathrop, Mark, Heckenlively, J. R., Edwards, A. O., Conley, Y., Othman, M., Scholl, Hendrik PN, Lathrop, M., Gorin, M. B., Baron, Robert V, Haines, J. L., Martin, Tammy M, Fariss, Robert N, Swaroop, A., Chew, E. Y., Fishman, Gerald A, Merriam, J. C., Grassmann, Felix, Tsironi, Evangelia E, Ratnapriya, R., Igo, Robert P, Chew, Emily Y, Zhan, Xiaowei, Bhattacharya, Shomi S, Jiang, Yingda, Iyengar, Sudha K, Kamatani, Y., Schaumberg, Debra A, Branham, Kari E, Heckenlively, John R, Brooks, M., Waseem, N. H., Léveillard, Thierry, Fariss, R. N., Weber, Bernhard H. F., Weber, B. H., Merriam, J. E., Baron, R. V., Chakarova, Christina F, Lotery, Andrew, Johnson, Matthew P, Kamatani, Yoichiro, Maminishkis, Arvydas, Merriam, Joanna E, Martin, T. M., Hagstrom, Stephanie A, Merriam, John C, Sergeev, Yuri V, Rajasimha, Harsha K, Kim, Ivana K, Deangelis, Margaret M, Zhan, X., Scholl, Hendrik P N, Weber, Bernhard H, Morrison, Margaux A, Souied, Eric, Truitt, Barbara J, Sahel, Jose-Alan, Campos, Maria M, Swaroop, Anand, Schaumberg, D. A., Friedman, J. S., Pericak-Vance, M. A., Li, Bingshan, Zipprer, D., Bhattacharya, S. E., Haines, Jonathan L, Brooks, Matthew, Friedman, James S, Igo, R. P., Chan, Chi-Chao, Johnson, M. P., Morgan, D. J., Fishman, G. A., Chan, C. C., Campos, M. M., Grassmann, F., Abecasis, G. R., Jiang, Y., Peachey, Neal S, Olson, L. M., Stambolian, Dwight, Pericak-Vance, Margaret A, Waseem, Naushin H, Klein, Michael L, Park, K. H., Jacobson, Samuel G, Gorin, Michael B, Tuo, J., Farrer, Lindsay A, Morgan, Denise J, Klein, Barbara E, Léveillard, T., Tuo, Jingsheng, Tsironi, E. E., Souied, E., Rajasimha, H. K., Ramke, Jacqueline, Peachey, N. S., Jacobson, S. G., Silvestri, G., Edwards, Albert O, Allikmets, R., Klein, M. L., Branham, K. E., Klein, B. E., Morrison, M. A., Sahel, J. A., Abecasis, Gonçalo R   +136 more
core   +2 more sources

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

BMC Medical Genomics, 2022
Background Osteogenesis imperfecta (OI) is the most common monogenic disease of the skeletal system and is usually caused by mutations in the COL1A1 or COL1A2 genes.
Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu   +7 more
doaj   +1 more source

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

Molecular Genetics & Genomic Medicine, 2021
Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2).
Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang   +6 more
doaj   +1 more source

Cancer-Associated Stromal Fibroblast-Derived Transcriptomes Predict Poor Clinical Outcomes and Immunosuppression in Colon Cancer

Pathology and Oncology Research, 2022
Background: Previous studies revealed that colonic cancer-associated fibroblasts (CAFs) are associated with the modulation of the colon tumor microenvironment (TME).
Jie Wang, Rehana Akter, Md. Fahim Shahriar, Md. Nazim Uddin   +3 more
doaj   +1 more source

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype

Frontiers in Genetics, 2022
Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. FBN1, FBN2, and FBN3 encode the human fibrillins and mutations in FBN1 and FBN2 cause connective tissue disorders called fibrillinopathies, affecting cardiovascular ...
Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini   +8 more
doaj   +1 more source

Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development

eLife, 2022
The embryonic extracellular matrix (ECM) undergoes transition to mature ECM as development progresses, yet few mechanisms ensuring ECM proteostasis during this period are known.
Timothy J Mead, Daniel R Martin, Lauren W Wang, Stuart A Cain, Cagri Gulec, Elisabeth Cahill, Joseph Mauch, Dieter Reinhardt, Cecilia Lo, Clair Baldock, Suneel S Apte   +10 more
doaj   +1 more source

Role of fibrilins in human cancer: A narrative review

Health Science Reports, 2023
Background Fibrillin is one of the extracellular matrix glycoproteins and participates in forming microfibrils found in many connective tissues. The microfibrils enable the elasticity and stretching properties of the ligaments and support connective ...
Mahsa Mahdizadehi, Marie Saghaeian Jazi, Seyyed Mostafa Mir, Seyyed Mehdi Jafari   +3 more
doaj   +1 more source

Gonacin: A germ cell-derived hormone with glucogenic, orexigenic, and gonadal activities

iScience, 2023
Summary: Fish require abundant nutrients to generate a large number of eggs for spawning. Based on the evolutionary conservation of human FBN2 and its C-terminal placensin-like sequences in fish, we identified a peptide hormone gonacin (GONAdal Cell ...
Yixuan Hu, Shengyou Zhao, Zhiquan Liu, Tao Kang, Aaron J.W. Hsueh, Jianzhen Li   +5 more
doaj   +1 more source