DSP

(redirected from Desmoplakin)
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Related to Desmoplakin: desmoplakin II

DSP

abbr. Latin
decessit sine prole (died without issue)

dsp

abbreviation for
decessit sine prole
[Latin: died without issue]
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5% muscle 1 DCM TTN Titin 13%-27% MYH7 Myosin, heavy chain 7 [congruent to] 5% LMNA Lamin A/C [congruent to] 5% DSP Desmoplakin [congruent to] 5% TNNT2 Troponin T2, cardiac type 2%-3% TPM1 Tropomyosin 1 (alpha) [congruent to] 2% TNNI3 Troponin I3, cardiac type <1% BAG3 BCL2 associated athanogene 3 N/A (a) RBM20 RNA binding motif protein 20 N/A ARVC PKP2 Plakophilin 2 25%-30% DSP Desmoplakin 9% DSG2 Desmoglein 2 3.
In the Carvajal disease variety two different mutations of the desmoplakin gene (Dsp7901del1G and DspG2375R), affecting the C-terminal of the protein, have been found as causative genes.
The clinical manifestations of the probands harbouring desmoplakin gene mutations are similar to patients with other ARVCs except that probands with DSP mutations are characterized by a high occurrence of sudden death even in the concealed phase (49), while individuals harbouring plakophilin-2 genes mutations express the disease earlier in life, as determined by age at first clinical manifestation and age at first arrhythmias (65).
Whereas the cadherins in most AJs are linked to the actin cytoskeleton through [alpha]-and [beta]-catenin, desmosomal cadherins recruit the armadillo proteins plakoglobin and plakophilin-1, which are vertebrate-specific gene duplications related to [beta]-catenin and are linked to the intermediate filament cytoskeleton either directly or via the linker protein desmoplakin (Schneider et al.
Additionally, the tumor is usually positive for vimentin, fascin, desmoplakin, EGFR, and human leukocyte antigenDR.
46 7SK RNA [Source:RFAM;Acc:RF00100] ENSSSCG00000012939 BRMS1 breast cancer metastasis suppressor 1 [Source:HGNC Symbol;Acc:17262] ENSSSCG00000013658 S1PR2 sphingosine-1-phosphate receptor 2 [Source:HGNC Symbol;Acc:3169] ENSSSCG00000026161 E2F6 E2F transcription factor 6 [Source:HGNC Symbol;Acc:3120] ENSSSCG00000001025 DSP desmoplakin [Source:HGNC Symbol;Acc:3052] ENSSSCG00000014802 NUMA1 nuclear mitotic apparatus protein 1 [Source:HGNC Symbol;Acc:8059] ENSSSCG00000016912 PPAP2A phosphatidic acid phosphatase type 2A [Source:HGNC Symbol;Acc:9228] ENSSSCG00000030936 CH242-154K8.
11] Carvajal disease is similar clinically to Naxos disease, except for left ventricular involvement and presentation at a younger age, and it is due to mutation in the desmoplakin gene.
Mutations in the plakoglobin (PKG; MIM 173325) and desmoplakin (DSP; MIM 125647) genes have been reported to cause the Naxos disease and the Carvajal syndrome, respectively.
Desmozomal plaklar hucre ici sitokeratinlerin baglanma noktalari olup desmoplakin, plakoglobin, plakofilin gibi yuksek molekuler agirlikli proteinlerden olusurlar.
By additional proteolysis and sequencing, we have found many cross-links within involucrin and between such proteins as involucrin and desmoplakin, or cystatin [Alpha], or envoplakin, or loricrin and SPRs.