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Select item 104394921.

A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer

Zechao Lu, Zeguang Lu, Yongchang Lai, Haobin Zhou, Zhibiao Li, Wanyan Cai, Zeyao Xu, Hongcheng Luo, Yushu Chen, Jianyu Li, Jishen Zhang, Zhaohui He, Fucai Tang

IET Syst Biol. 2023 Aug; 17(4): 162–173. Published online 2023 Jun 19. doi: 10.1049/syb2.12067

PMCID:: PMC10439492

Abstract Article PDF–2.9M

Select item 88365392.

FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts

Jérémy Boizot, Mélaine Minville-Walz, Dieter Peter Reinhardt, Marielle Bouschbacher, Pascal Sommer, Dominique Sigaudo-Roussel, Romain Debret

Int J Mol Sci. 2022 Feb; 23(3): 1824. Published online 2022 Feb 5. doi: 10.3390/ijms23031824

PMCID:: PMC8836539

Abstract Article PDF–3.3M

Select item 81237543.

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

Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang

Mol Genet Genomic Med. 2021 Apr; 9(4): e1638. Published online 2021 Feb 27. doi: 10.1002/mgg3.1638

PMCID:: PMC8123754

Abstract Article PDF–895K

Select item 54122664.

Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly

Guoling You, Bailing Zu, Bo Wang, Zhigang Wang, Yunlan Xu, Qihua Fu

Int J Mol Sci. 2017 Apr; 18(4): 626. Published online 2017 Apr 5. doi: 10.3390/ijms18040626

PMCID:: PMC5412266

Abstract Article PDF–8.4M

Select item 48732175.

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

Hao Deng, Qian Lu, Hongbo Xu, Xiong Deng, Lamei Yuan, Zhijian Yang, Yi Guo, Qiongfen Lin, Jingjing Xiao, Liping Guan, Zhi Song

PLoS One. 2016; 11(5): e0155908. Published online 2016 May 19. doi: 10.1371/journal.pone.0155908

PMCID:: PMC4873217

Abstract Article PDF–1.1M

Select item 41898986.

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

Rinki Ratnapriya, Xiaowei Zhan, Robert N. Fariss, Kari E. Branham, David Zipprer, Christina F. Chakarova, Yuri V. Sergeev, Maria M. Campos, Mohammad Othman, James S. Friedman, Arvydas Maminishkis, Naushin H. Waseem, Matthew Brooks, Harsha K. Rajasimha, Albert O. Edwards, Andrew Lotery, Barbara E. Klein, Barbara J. Truitt, Bingshan Li, Debra A. Schaumberg, Denise J. Morgan, Margaux A. Morrison, Eric Souied, Evangelia E. Tsironi, Felix Grassmann, Gerald A. Fishman, Giuliana Silvestri, Hendrik P.N. Scholl, Ivana K. Kim, Jacqueline Ramke, Jingsheng Tuo, Joanna E. Merriam, John C. Merriam, Kyu Hyung Park, Lana M. Olson, Lindsay A. Farrer, Matthew P. Johnson, Neal S. Peachey, Mark Lathrop, Robert V. Baron, Robert P. Igo, Jr, Ronald Klein, Stephanie A. Hagstrom, Yoichiro Kamatani, Tammy M. Martin, Yingda Jiang, Yvette Conley, Jose-Alan Sahel, Donald J. Zack, Chi-Chao Chan, Margaret A. Pericak-Vance, Samuel G. Jacobson, Michael B. Gorin, Michael L. Klein, Rando Allikmets, Sudha K. Iyengar, Bernhard H. Weber, Jonathan L. Haines, Thierry Léveillard, Margaret M. Deangelis, Dwight Stambolian, Daniel E. Weeks, Shomi S. Bhattacharya, Emily Y. Chew, John R. Heckenlively, Gonçalo R. Abecasis, Anand Swaroop

Hum Mol Genet. 2014 Nov 1; 23(21): 5827–5837. Published online 2014 Jun 4. doi: 10.1093/hmg/ddu276

PMCID:: PMC4189898

Abstract Article PDF–14M

Select item 19148507.

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

M. Wang, C. L. Clericuzio, M. Godfrey

Am J Hum Genet. 1996 Nov; 59(5): 1027–1034.

PMCID:: PMC1914850

Summary Page Browse PDF–2.0M

Select item 93224478.

The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2

Silke Peeters, Pauline De Kinderen, Josephina A. N. Meester, Aline Verstraeten, Bart L. Loeys

Hum Mutat. 2022 Jul; 43(7): 815–831. Published online 2022 Apr 28. doi: 10.1002/humu.24383

PMCID:: PMC9322447

Abstract Article PDF–1.8M

Select item 92707879.

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

Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

BMC Med Genomics. 2022; 15: 154. Published online 2022 Jul 8. doi: 10.1186/s12920-022-01296-8

PMCID:: PMC9270787

Abstract Article PDF–2.8M

Select item 555370910.

Fibrillin-2 and Tenascin-C Bridge the Age Gap in Lung Epithelial Regeneration

Sarah E. Gilpin, Qiyao Li, Daniele Evangelista-Leite, Xi Ren, Dieter P. Reinhardt, Brian L. Frey, Harald C. Ott

Biomaterials. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Biomaterials. 2017 Sep; 140: 212–219. Published online 2017 Jun 22. doi: 10.1016/j.biomaterials.2017.06.027

PMCID:: PMC5553709

Abstract Article PDF–1.6M

Select item 348775811.

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

Stuart A. Cain, Amanda McGovern, Andrew K. Baldwin, Clair Baldock, Cay M. Kielty

PLoS One. 2012; 7(11): e48634. Published online 2012 Nov 2. doi: 10.1371/journal.pone.0048634

PMCID:: PMC3487758

Abstract Article PDF–2.9M

Select item 122030012.

N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly.

T M Trask, T M Ritty, T Broekelmann, C Tisdale, R P Mecham

Biochem J. 1999 Jun 15; 340(Pt 3): 693–701.

PMCID:: PMC1220300

Summary PDF–231K

Select item 988875613.

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

Alanna Strong, Cara Skraban, Kevin Meyers, Sandra Amaral, Susan Furth, Stacey Drant, Wendy Hsiao, Lauren Galea, Jessica Gold, Nina B. Gold, Jacqueline Leonard, Sonya Lopez, Elaine H. Zackai, Reed E. Pyeritz

Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 31.

Published in final edited form as: Am J Med Genet A. 2021 Dec; 185(12): 3762–3769. Published online 2021 Aug 6. doi: 10.1002/ajmg.a.62449

PMCID:: PMC9888756

Abstract Article PDF–1.0M

Select item 288843714.

Microfibril Structure Masks Fibrillin-2 in Postnatal Tissues

Noe L. Charbonneau, C. Diana Jordan, Douglas R. Keene, Sui Lee-Arteaga, Harry C. Dietz, Daniel B. Rifkin, Francesco Ramirez, Lynn Y. Sakai

J Biol Chem. 2010 Jun 25; 285(26): 20242–20251. Published online 2010 Apr 19. doi: 10.1074/jbc.M109.087031

PMCID:: PMC2888437

Abstract Article PDF–4.4M

Select item 212048715.

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

J Cell Biol. 1995 May 2; 129(4): 1165–1176. doi: 10.1083/jcb.129.4.1165

PMCID:: PMC2120487

Summary PDF–6.4M

Select item 415915116.

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

Jillian G. Buchan, David M. Alvarado, Gabe E. Haller, Carlos Cruchaga, Matthew B. Harms, Tianxiao Zhang, Marcia C. Willing, Dorothy K. Grange, Alan C. Braverman, Nancy H. Miller, Jose A. Morcuende, Nelson Leung-Sang Tang, Tsz-Ping Lam, Bobby Kin-Wah Ng, Jack Chun-Yiu Cheng, Matthew B. Dobbs, Christina A. Gurnett

Hum Mol Genet. 2014 Oct 1; 23(19): 5271–5282. Published online 2014 May 15. doi: 10.1093/hmg/ddu224

PMCID:: PMC4159151

Abstract Article PDF–318K

Select item 840593617.

POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1

Daniel B. Williamson, Camron J. Sohn, Atsuko Ito, Robert S. Haltiwanger

J Biol Chem. 2021 Sep; 297(3): 101055. Published online 2021 Aug 17. doi: 10.1016/j.jbc.2021.101055

PMCID:: PMC8405936

Abstract Article PDF–4.4M

Select item 211995218.

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

J Cell Biol. 1994 Mar 1; 124(5): 855–863. doi: 10.1083/jcb.124.5.855

PMCID:: PMC2119952

Summary PDF–7.5M

Select item 310160219.

Fibrillin-1 and -2 differentially modulate endogenous TGF-β and BMP bioavailability during bone formation

Harikiran Nistala, Sui Lee-Arteaga, Silvia Smaldone, Gabriella Siciliano, Luca Carta, Robert N. Ono, Gerhard Sengle, Emilio Arteaga-Solis, Regis Levasseur, Patricia Ducy, Lynn Y. Sakai, Gerard Karsenty, Francesco Ramirez

J Cell Biol. 2010 Sep 20; 190(6): 1107–1121. doi: 10.1083/jcb.201003089

PMCID:: PMC3101602

Abstract Article PDF–3.6M

Select item 225438720.

High-throughput mammalian two-hybrid screening for protein-protein interactions using transfected cell arrays

Andrea Fiebitz, Lajos Nyarsik, Bernard Haendler, Yu-Hui Hu, Florian Wagner, Sabine Thamm, Hans Lehrach, Michal Janitz, Dominique Vanhecke

BMC Genomics. 2008; 9: 68. Published online 2008 Feb 6. doi: 10.1186/1471-2164-9-68

PMCID:: PMC2254387

Abstract Article PDF–347K

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