| Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis. | Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis.
Ghorbani S, Li C, Lozinski BM, Moezzi D, D'Mello C, Dong Y, Visser F, Li H, Silva C, Khakpour M, Murray CJ, Tremblay MÈ, Xue M, Yong VW., Free PMC Article | 07/24/2024 |
| Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells. | Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells.
Hamano S, Yamashita D, Hasegawa D, Sugii H, Itoyama T, Maeda H. | 07/19/2024 |
| FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations. | FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Yang S, Li Z. | 06/6/2024 |
| A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer. | A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer.
Lu Z, Lu Z, Lai Y, Zhou H, Li Z, Cai W, Xu Z, Luo H, Chen Y, Li J, Zhang J, He Z, Tang F., Free PMC Article | 08/25/2023 |
| Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease? | Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?
Poszepczyński J, Pietrusiński M, Borowiec M, Edward Domżalski M. | 05/17/2023 |
| Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family. | Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.
Chen J, Xiang Q, Xiao X, Xu B, Xie H, Wang H, Yang M, Liu S., Free PMC Article | 07/16/2022 |
| The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. | The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
Peeters S, De Kinderen P, Meester JAN, Verstraeten A, Loeys BL., Free PMC Article | 06/18/2022 |
| FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts. | FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts.
Boizot J, Minville-Walz M, Reinhardt DP, Bouschbacher M, Sommer P, Sigaudo-Roussel D, Debret R., Free PMC Article | 04/16/2022 |
| Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes. | Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Strong A, Skraban C, Meyers K, Amaral S, Furth S, Drant S, Hsiao W, Galea L, Gold J, Gold NB, Leonard J, Lopez S, Zackai EH, Pyeritz RE., Free PMC Article | 03/5/2022 |
| Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome. | Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
Peeters S, Decramer A, Cain SA, Houpt P, Verstreken F, Noyez J, Hermans C, Jacobs W, Lammens M, Fransen E, Kumar AA, Vandeweyer G, Loeys B, Van Hul W, Baldock C, Boudin E, Mortier G. | 02/26/2022 |
| POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1. | POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of fibrillin-1.
Williamson DB, Sohn CJ, Ito A, Haltiwanger RS., Free PMC Article | 12/11/2021 |
| Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly. | Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.
Hu L, Li H, Sun G, Wu K, Luan Z, Xiang Y, Tang S., Free PMC Article | 12/11/2021 |
| Fibrillin 2 gene knockdown inhibits invasion and migration of lung cancer cells. | Fibrillin 2 gene knockdown inhibits invasion and migration of lung cancer cells.
Hong Q, Li R, Zhang Y, Gu K. | 08/7/2021 |
| A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis. | A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.
Li J, Wang Y, Zhu X, Nie Y, Kuo Y, Guan S, Huang J, Lian Y, Zhao Y, Li R, Wei Y, Qiao J, Yan L. | 06/19/2021 |
| The c.3528C>A (p.Asn1176Lys) variant of the FBN2 gene probably underlies the pathogenesis of CCA in our case of congenital contractural arachnodactyly | [Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].
Wang J, Xia Y, Wang Y, Yang F, Kong X. | 06/27/2020 |
| No common variant of FBN2 was, however, found to be significantly associated with AIS. | New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis.
Sheng F, Xia C, Xu L, Qin X, Tang NL, Qiu Y, Cheng JC, Zhu Z. | 07/27/2019 |
| Case Report: femoral aneurysm in patient with FBN2 mutation. | Femoral Artery Aneurysm Repair in a Patient With a Fibrillin-2 Mutation.
Ratschiller T, Müller H, Schachner T, Fellner F, Sulzbacher G, Zierer A. | 11/10/2018 |
| Sequencing analysis showed a novel missense mutation in exon 30 of FBN2 gene [c.3973G>A, p.Asp1325Asn; Chr5 (g.127670862C>T) according to NM_001999.3] | A novel FBN2 mutation in a Turkish case with congenital contractural arachnodactyly.
Gürler AI, Yüksel Z, Karaer K. | 10/20/2018 |
| Decellularized lung scaffolds treated with FBN-2 and TN-C prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling. | Fibrillin-2 and Tenascin-C bridge the age gap in lung epithelial regeneration.
Gilpin SE, Li Q, Evangelista-Leite D, Ren X, Reinhardt DP, Frey BL, Ott HC., Free PMC Article | 05/5/2018 |
| BAV patients have an increased FBN (especially FBN2) gene expression level in the ascending aorta, irrespective of dilatation, whereas MMP expression does not change significantly. | Fibrillin 2 is upregulated in the ascending aorta of patients with bicuspid aortic valve.
Rueda-Martínez C, Lamas O, Mataró MJ, Robledo-Carmona J, Sánchez-Espín G, Moreno-Santos I, Carrasco-Chinchilla F, Gallego P, Such-Martínez M, de Teresa E, Jiménez-Navarro M, Fernández B. | 07/22/2017 |
| A novel missense mutation, c.3769T>C (p.C1257R) in FBN2 was identified responsible for the genetic cause in a family with congenital contractural arachnodactyly. | Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
Deng H, Lu Q, Xu H, Deng X, Yuan L, Yang Z, Guo Y, Lin Q, Xiao J, Guan L, Song Z., Free PMC Article | 07/8/2017 |
| Study described a novel mutation seen in a family with three generations of congenital contractural arachnodactyly (CCA). Whole exome sequencing in two affected individuals identified a novel missense mutation in the FBN2 gene in all affected family members. | Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.
You G, Zu B, Wang B, Wang Z, Xu Y, Fu Q., Free PMC Article | 04/29/2017 |
| The presence of the splice site mutation in FBN2 gene has been confirmed in a Japanese family with congenital contractural arachnodactyly complicated with aortic dilatation and dissection. | Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.
Takeda N, Morita H, Fujita D, Inuzuka R, Taniguchi Y, Imai Y, Hirata Y, Komuro I. | 06/11/2016 |
| DNA sequence variation within the FBN2 gene is associated with both Achilles tendon (AT) and anterior cruciate ligament (ACL) rupture. | ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries.
Khoury LE, Posthumus M, Collins M, van der Merwe W, Handley C, Cook J, Raleigh SM. | 11/21/2015 |
| Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. | Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A., Free PMC Article | 06/20/2015 |