253 related articles for article (PubMed ID: 33255942)
1. Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK; Sankar S; Younes S; D TK; Ahmad MN; Okashah SS; Kamaraj B; Al-Subaie AM; C GPD; Zayed H
Molecules; 2020 Nov; 25(23):. PubMed ID: 33255942
[TBL] [Abstract][Full Text] [Related]
2. Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.
Sawyer GM; Clark AR; Robertson SP; Sutherland-Smith AJ
J Mol Biol; 2009 Jul; 390(5):1030-47. PubMed ID: 19505475
[TBL] [Abstract][Full Text] [Related]
3. Mutations in FLNB cause boomerang dysplasia.
Bicknell LS; Morgan T; Bonafé L; Wessels MW; Bialer MG; Willems PJ; Cohn DH; Krakow D; Robertson SP
J Med Genet; 2005 Jul; 42(7):e43. PubMed ID: 15994868
[TBL] [Abstract][Full Text] [Related]
4. Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.
Wu H; Wang Y; Chen X; Yao Y; Zhao W; Fang L; Sun X; Wang N; Jiang J; Gao L; Zhao J; Xu C
Oxid Med Cell Longev; 2022; 2022():8956636. PubMed ID: 35832491
[TBL] [Abstract][Full Text] [Related]
5. Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C; Firestein MH; Bicknell LS; Superti-Furga A; Bacino CA; Cormier-Daire V; Le Merrer M; Baumann C; Roume J; Rump P; Verheij JB; Sweeney E; Rimoin DL; Lachman RS; Robertson SP; Cohn DH; Krakow D
Hum Mutat; 2006 Jul; 27(7):705-10. PubMed ID: 16752402
[TBL] [Abstract][Full Text] [Related]
6. Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach.
P S; D KT; Tanwar H; R S; C GPD; Zayed H
J Cell Biochem; 2017 Jul; 118(7):1900-1910. PubMed ID: 28145583
[TBL] [Abstract][Full Text] [Related]
7. F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.
Zhao Y; Shapiro SS; Eto M
Am J Physiol Cell Physiol; 2016 Jan; 310(1):C89-98. PubMed ID: 26491051
[TBL] [Abstract][Full Text] [Related]
8. Filamin B: The next hotspot in skeletal research?
Xu Q; Wu N; Cui L; Wu Z; Qiu G
J Genet Genomics; 2017 Jul; 44(7):335-342. PubMed ID: 28739045
[TBL] [Abstract][Full Text] [Related]
9. Filamin B mutations cause chondrocyte defects in skeletal development.
Lu J; Lian G; Lenkinski R; De Grand A; Vaid RR; Bryce T; Stasenko M; Boskey A; Walsh C; Sheen V
Hum Mol Genet; 2007 Jul; 16(14):1661-75. PubMed ID: 17510210
[TBL] [Abstract][Full Text] [Related]
10. Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.
Jeon GW; Lee MN; Jung JM; Hong SY; Kim YN; Sin JB; Ki CS
Ann Lab Med; 2014 Mar; 34(2):134-8. PubMed ID: 24624349
[TBL] [Abstract][Full Text] [Related]
11. Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Rehder H; Laccone F; Kircher SG; Schild RL; Rapp C; Bald R; Schulze B; Behunova J; Neesen J; Schoner K
Am J Med Genet A; 2018 Jul; 176(7):1559-1568. PubMed ID: 29797497
[TBL] [Abstract][Full Text] [Related]
12. Ca2+ and calmodulin regulate the binding of filamin A to actin filaments.
Nakamura F; Hartwig JH; Stossel TP; Szymanski PT
J Biol Chem; 2005 Sep; 280(37):32426-33. PubMed ID: 16030015
[TBL] [Abstract][Full Text] [Related]
13. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Daniel PB; Morgan T; Alanay Y; Bijlsma E; Cho TJ; Cole T; Collins F; David A; Devriendt K; Faivre L; Ikegawa S; Jacquemont S; Jesic M; Krakow D; Liebrecht D; Maitz S; Marlin S; Morin G; Nishikubo T; Nishimura G; Prescott T; Scarano G; Shafeghati Y; Skovby F; Tsutsumi S; Whiteford M; Zenker M; Robertson SP
Hum Mutat; 2012 Apr; 33(4):665-73. PubMed ID: 22190451
[TBL] [Abstract][Full Text] [Related]
14. Comparative analysis of the two extremes of
Xu Q; Wu N; Cui L; Lin M; Thirumal Kumar D; George Priya Doss C; Wu Z; Shen J; Song X; Qiu G
Am J Transl Res; 2018; 10(5):1400-1412. PubMed ID: 29887954
[TBL] [Abstract][Full Text] [Related]
15. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha KM; Bidchol AM; Graul-Neumann L; Gupta A; Hehr U; Lessel D; Nader S; Shah H; Wickert J; Kutsche K
BMC Med Genet; 2016 Apr; 17():27. PubMed ID: 27048506
[TBL] [Abstract][Full Text] [Related]
16. Structural basis of the filamin A actin-binding domain interaction with F-actin.
Iwamoto DV; Huehn A; Simon B; Huet-Calderwood C; Baldassarre M; Sindelar CV; Calderwood DA
Nat Struct Mol Biol; 2018 Oct; 25(10):918-927. PubMed ID: 30224736
[TBL] [Abstract][Full Text] [Related]
17. Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.
Salian S; Shukla A; Shah H; Bhat SN; Bhat VR; Nampoothiri S; Shenoy R; Phadke SR; Hariharan SV; Girisha KM
Clin Genet; 2018 Jul; 94(1):159-164. PubMed ID: 29566257
[TBL] [Abstract][Full Text] [Related]
18. Mutations responsible for Larsen syndrome cluster in the FLNB protein.
Zhang D; Herring JA; Swaney SS; McClendon TB; Gao X; Browne RH; Rathjen KE; Johnston CE; Harris S; Cain NM; Wise CA
J Med Genet; 2006 May; 43(5):e24. PubMed ID: 16648377
[TBL] [Abstract][Full Text] [Related]
19. Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion.
Quiggle A; Charng WL; Antunes L; Nikolov M; Bledsoe X; Hecht JT; Dobbs MB; Gurnett CA
Clin Orthop Relat Res; 2022 Feb; 480(2):421-430. PubMed ID: 34491919
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
