BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

105 related articles for article (PubMed ID: 28447722)

  • 1. Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q.
    Zhong J; Chen G; Dang Y; Liao H; Zhang J; Lan D
    Mol Med Rep; 2017 May; 15(5):2760-2764. PubMed ID: 28447722
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.
    Fattahi Z; Kahrizi K; Nafissi S; Fadaee M; Abedini SS; Kariminejad A; Akbari MR; Najmabadi H
    Arch Iran Med; 2015 Jan; 18(1):60-4. PubMed ID: 25556389
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.
    Yin J; Ren Y; Lin Z; Wang H; Zhou Y; Yang Y
    Int J Dermatol; 2015 Feb; 54(2):185-7. PubMed ID: 25209331
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.
    Winter L; Türk M; Harter PN; Mittelbronn M; Kornblum C; Norwood F; Jungbluth H; Thiel CT; Schlötzer-Schrehardt U; Schröder R
    Acta Neuropathol Commun; 2016 Apr; 4(1):44. PubMed ID: 27121971
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
    Argyropoulou Z; Liu L; Ozoemena L; Branco CC; Senra R; Reis-Rego Â; Mota-Vieira L
    BMC Dermatol; 2018 Jan; 18(1):1. PubMed ID: 29352809
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.
    Torbati PN; Doosti M; Sarraf P; Boostani R; Ahangari N; Toosi MB; Tafakhori A; Babaei M; Abedini S; Malek H; Maskani S; Safi M; Karimiani EG
    Iran J Public Health; 2024 May; 53(5):1184-1191. PubMed ID: 38912134
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
    Gundesli H; Talim B; Korkusuz P; Balci-Hayta B; Cirak S; Akarsu NA; Topaloglu H; Dincer P
    Am J Hum Genet; 2010 Dec; 87(6):834-41. PubMed ID: 21109228
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Research advances in limb-girdle muscular dystrophy type 2Q].
    Zhang M; Lan D
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Aug; 21(8):839-844. PubMed ID: 31416513
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
    Li L; Jing Z; Cheng L; Liu W; Wang H; Xu Y; Zheng X; Yu X; Liu S
    J Gene Med; 2020 Nov; 22(11):e3272. PubMed ID: 32889728
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Glu20Ter Variant in
    Deev RV; Bardakov SN; Mavlikeev MO; Yakovlev IA; Umakhanova ZR; Akhmedova PG; Magomedova RM; Chekmaryeva IA; Dalgatov GD; Isaev AA
    Front Neurol; 2017; 8():367. PubMed ID: 28824526
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.
    Chen Q; Lin ZM; Wang HJ; Zhang J; Yin JH; Yang Y
    Clin Exp Dermatol; 2013 Oct; 38(7):792-4. PubMed ID: 23496806
    [No Abstract]   [Full Text] [Related]  

  • 12. Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
    Vahidnezhad H; Youssefian L; Harvey N; Tavasoli AR; Saeidian AH; Sotoudeh S; Varghaei A; Mahmoudi H; Mansouri P; Mozafari N; Zargari O; Zeinali S; Uitto J
    Hum Mutat; 2022 Dec; 43(12):1706-1731. PubMed ID: 35815343
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Four Individuals with a Homozygous Mutation in Exon 1f of the
    Mroczek M; Durmus H; Töpf A; Parman Y; Straub V
    Genes (Basel); 2020 Jun; 11(7):. PubMed ID: 32605089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.
    Dang M; Pulkkinen L; Smith FJ; McLean WH; Uitto J
    Lab Invest; 1998 Feb; 78(2):195-204. PubMed ID: 9484717
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy.
    Rouan F; Pulkkinen L; Meneguzzi G; Laforgia S; Hyde P; Kim DU; Richard G; Uitto J
    J Invest Dermatol; 2000 Feb; 114(2):381-7. PubMed ID: 10652002
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
    Pantoja-Melendez CA; Miranda-Duarte A; Roque-Ramirez B; Zenteno JC
    PLoS One; 2017; 12(1):e0170280. PubMed ID: 28103310
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
    Charlesworth A; Chiaverini C; Chevrant-Breton J; DelRio M; Diociaiuti A; Dupuis RP; El Hachem M; Le Fiblec B; Sankari-Ho AM; Valhquist A; Wierzbicka E; Lacour JP; Meneguzzi G
    Br J Dermatol; 2013 Apr; 168(4):808-14. PubMed ID: 23289980
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.
    Zhao X; Gao C; Li L; Jiang L; Wei Y; Che F; Liu Q
    Int J Dev Neurosci; 2023 Feb; 83(1):23-30. PubMed ID: 36217604
    [TBL] [Abstract][Full Text] [Related]  

  • 19. DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
    Nakamura H; Natsuga K; Nishie W; McMillan JR; Nakamura H; Sawamura D; Akiyama M; Shimizu H
    Int J Dermatol; 2011 Apr; 50(4):439-42. PubMed ID: 21413955
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
    Forrest K; Mellerio JE; Robb S; Dopping-Hepenstal PJ; McGrath JA; Liu L; Buk SJ; Al-Sarraj S; Wraige E; Jungbluth H
    Neuromuscul Disord; 2010 Nov; 20(11):709-11. PubMed ID: 20624679
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.