BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 10652002)

  • 21. 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]  

  • 22. Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
    Natsuga K; Nishie W; Shinkuma S; Arita K; Nakamura H; Ohyama M; Osaka H; Kambara T; Hirako Y; Shimizu H
    Hum Mutat; 2010 Oct; 31(10):E1687-98. PubMed ID: 20665883
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.
    Koss-Harnes D; Høyheim B; Anton-Lamprecht I; Gjesti A; Jørgensen RS; Jahnsen FL; Olaisen B; Wiche G; Gedde-Dahl T
    J Invest Dermatol; 2002 Jan; 118(1):87-93. PubMed ID: 11851880
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy.
    Shimizu H; Masunaga T; Kurihara Y; Owaribe K; Wiche G; Pulkkinen L; Uitto J; Nishikawa T
    Arch Dermatol Res; 1999 Oct; 291(10):531-7. PubMed ID: 10552210
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.
    Gache Y; Chavanas S; Lacour JP; Wiche G; Owaribe K; Meneguzzi G; Ortonne JP
    J Clin Invest; 1996 May; 97(10):2289-98. PubMed ID: 8636409
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation.
    Villa CR; Ryan TD; Collins JJ; Taylor MD; Lucky AW; Jefferies JL
    Neuromuscul Disord; 2015 Feb; 25(2):165-8. PubMed ID: 25454730
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
    Schröder R; Kunz WS; Rouan F; Pfendner E; Tolksdorf K; Kappes-Horn K; Altenschmidt-Mehring M; Knoblich R; van der Ven PF; Reimann J; Fürst DO; Blümcke I; Vielhaber S; Zillikens D; Eming S; Klockgether T; Uitto J; Wiche G; Rolfs A
    J Neuropathol Exp Neurol; 2002 Jun; 61(6):520-30. PubMed ID: 12071635
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.
    Vishwanathan GB; Srinivasa M; Batrani M; Kubba A; Ghosh S; Gupta D; Jayashankar C; Rai A; Jangond A; Inamadar A; Hiremagalore R
    Am J Med Genet A; 2022 Aug; 188(8):2454-2459. PubMed ID: 35579050
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.
    McMillan JR; Akiyama M; Rouan F; Mellerio JE; Lane EB; Leigh IM; Owaribe K; Wiche G; Fujii N; Uitto J; Eady RA; Shimizu H
    Muscle Nerve; 2007 Jan; 35(1):24-35. PubMed ID: 16967486
    [TBL] [Abstract][Full Text] [Related]  

  • 34. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
    Bolling MC; Pas HH; de Visser M; Aronica E; Pfendner EG; van den Berg MP; Diercks GF; Suurmeijer AJ; Jonkman MF
    J Invest Dermatol; 2010 Apr; 130(4):1178-81. PubMed ID: 20016501
    [No Abstract]   [Full Text] [Related]  

  • 35. Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
    Kyrova J; Kopeckova L; Buckova H; Mrazova L; Vesely K; Hermanova M; Oslejskova H; Fajkusova L
    J Dermatol Case Rep; 2016 Nov; 10(3):39-48. PubMed ID: 28400893
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
    Tamai K; Ishida-Yamamoto A; Matsuo S; Iizuka H; Hashimoto I; Christiano AM; Uitto J; McGrath JA
    Lab Invest; 1997 Feb; 76(2):209-17. PubMed ID: 9042157
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
    Natsuga K; Nishie W; Akiyama M; Nakamura H; Shinkuma S; McMillan JR; Nagasaki A; Has C; Ouchi T; Ishiko A; Hirako Y; Owaribe K; Sawamura D; Bruckner-Tuderman L; Shimizu H
    Hum Mutat; 2010 Mar; 31(3):308-16. PubMed ID: 20052759
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].
    Schuur J; De Weerdt CJ
    Ned Tijdschr Geneeskd; 2000 Aug; 144(32):1565-6. PubMed ID: 10979819
    [No Abstract]   [Full Text] [Related]  

  • 39. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
    Floeth M; Fiedorowicz J; Schäcke H; Hammami-Hausli N; Owaribe K; Trüeb RM; Bruckner-Tuderman L
    J Invest Dermatol; 1998 Sep; 111(3):528-33. PubMed ID: 9740252
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.
    Kaneyasu H; Takahashi K; Ohta N; Okada S; Kimura S; Yasuno S; Murata S; Katsura S; Yamada N; Shiraishi K; Tsuda J; Miyai S; Kurahashi H; Hasegawa S; Shimomura Y
    J Dermatol; 2023 Feb; 50(2):239-244. PubMed ID: 35996939
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.