70 related articles for article (PubMed ID: 25712130)
1. Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
Gostyńska KB; Nijenhuis M; Lemmink H; Pas HH; Pasmooij AM; Lang KK; Castañón MJ; Wiche G; Jonkman MF
Hum Mol Genet; 2015 Jun; 24(11):3155-62. PubMed ID: 25712130
[TBL] [Abstract][Full Text] [Related]
2. Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.
Mauldin EA; Wang P; Olivry T; Henthorn PS; Casal ML
Vet Dermatol; 2017 Feb; 28(1):10-e3. PubMed ID: 27878870
[TBL] [Abstract][Full Text] [Related]
3. Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.
Zrelski MM; Hösele S; Kustermann M; Fichtinger P; Kah D; Athanasiou I; Esser PR; Wagner A; Herzog R; Kratochwill K; Goldmann WH; Kiritsi D; Winter L
J Invest Dermatol; 2024 Mar; 144(3):547-562.e9. PubMed ID: 37716646
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.
Banwell BL; Russel J; Fukudome T; Shen XM; Stilling G; Engel AG
J Neuropathol Exp Neurol; 1999 Aug; 58(8):832-46. PubMed ID: 10446808
[TBL] [Abstract][Full Text] [Related]
6. Plectin in Cancer: From Biomarker to Therapeutic Target.
Perez SM; Brinton LT; Kelly KA
Cells; 2021 Aug; 10(9):. PubMed ID: 34571895
[TBL] [Abstract][Full Text] [Related]
7. Correction: Winter et al. Z-Disk-Associated Plectin (Isoform 1d): Spatial Arrangement, Interaction Partners, and Role in Filamin C Homeostasis.
Winter L; Staszewska-Daca I; Zittrich S; Elhamine F; Zrelski MM; Schmidt K; Fischer I; Jüngst C; Schauss A; Goldmann WH; Stehle R; Wiche G
Cells; 2023 Nov; 12(23):. PubMed ID: 38067197
[TBL] [Abstract][Full Text] [Related]
8. A Drosophila Model of Epidermolysis Bullosa Simplex.
Bohnekamp J; Cryderman DE; Paululat A; Baccam GC; Wallrath LL; Magin TM
J Invest Dermatol; 2015 Aug; 135(8):2031-2039. PubMed ID: 25830653
[TBL] [Abstract][Full Text] [Related]
9. A single epidermal stem cell strategy for safe ex vivo gene therapy.
Droz-Georget Lathion S; Rochat A; Knott G; Recchia A; Martinet D; Benmohammed S; Grasset N; Zaffalon A; Besuchet Schmutz N; Savioz-Dayer E; Beckmann JS; Rougemont J; Mavilio F; Barrandon Y
EMBO Mol Med; 2015 Apr; 7(4):380-93. PubMed ID: 25724200
[TBL] [Abstract][Full Text] [Related]
10. Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Zschocke J; Byers PH; Wilkie AOM
Nat Rev Genet; 2023 Jul; 24(7):442-463. PubMed ID: 36806206
[TBL] [Abstract][Full Text] [Related]
11. Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis.
Orton SM; Sangha A; Gupta M; Martens K; Metz LM; de Koning APJ; Pfeffer G
Front Neurol; 2022; 13():1064008. PubMed ID: 36644209
[TBL] [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. Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC; Caba L; Florea L; Braha EE; Gorduza EV
Diagnostics (Basel); 2022 May; 12(6):. PubMed ID: 35741135
[TBL] [Abstract][Full Text] [Related]
14. Plectin in Skin Fragility Disorders.
Kiritsi D; Tsakiris L; Schauer F
Cells; 2021 Oct; 10(10):. PubMed ID: 34685719
[TBL] [Abstract][Full Text] [Related]
15. Muscle-Related Plectinopathies.
Zrelski MM; Kustermann M; Winter L
Cells; 2021 Sep; 10(9):. PubMed ID: 34572129
[TBL] [Abstract][Full Text] [Related]
16. Identifying Plectin Isoform Functions through Animal Models.
Castañón MJ; Wiche G
Cells; 2021 Sep; 10(9):. PubMed ID: 34572100
[TBL] [Abstract][Full Text] [Related]
17. Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y; Wang Z; Mi Z; Sun L; Fu X; Yu G; Pang Z; Liu H; Zhang F
Acta Derm Venereol; 2021 Jul; 101(7):adv00503. PubMed ID: 34046686
[TBL] [Abstract][Full Text] [Related]
18. The Diversity of Intermediate Filaments in Astrocytes.
Potokar M; Morita M; Wiche G; Jorgačevski J
Cells; 2020 Jul; 9(7):. PubMed ID: 32630739
[TBL] [Abstract][Full Text] [Related]
19. Plectin dysfunction in neurons leads to tau accumulation on microtubules affecting neuritogenesis, organelle trafficking, pain sensitivity and memory.
Valencia RG; Mihailovska E; Winter L; Bauer K; Fischer I; Walko G; Jorgacevski J; Potokar M; Zorec R; Wiche G
Neuropathol Appl Neurobiol; 2021 Feb; 47(1):73-95. PubMed ID: 32484610
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
