Details of Drug Off-Target (DOT)

General Information of Drug Off-Target (DOT) (ID: OTB2MOP8)

• DOT Name: Desmoplakin (DSP)
• Synonyms: DP; 250/210 kDa paraneoplastic pemphigus antigen
• Gene Name: DSP
• Related Disease:
  Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
  Arrhythmogenic right ventricular dysplasia 8
  Gastric cancer
  Lung cancer
  Lung carcinoma
  Prostate cancer
  Prostate carcinoma
  Stomach cancer
  Adenocarcinoma
  Advanced cancer
  Alopecia
  Arrhythmia
  Bullous pemphigoid
  Cardiac failure
  Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
  Colon carcinoma
  Congestive heart failure
  Crohn disease
  Dilated cardiomyopathy
  Dilated cardiomyopathy 1A
  Esophageal squamous cell carcinoma
  Keratosis palmoplantaris striata 2
  Lethal acantholytic epidermolysis bullosa
  Lung neoplasm
  Melanoma
  Metastatic malignant neoplasm
  Motor neurone disease
  Naxos disease
  Neoplasm
  Non-small-cell lung cancer
  Oral cancer
  Oropharyngeal carcinoma
  Osteoarthritis
  Skin fragility-woolly hair-palmoplantar keratoderma syndrome
  Squamous cell carcinoma
  Toxic epidermal necrolysis
  Ventricular tachycardia
  Woolly hair-skin fragility syndrome
  Chronic obstructive pulmonary disease
  Long QT syndrome 1
  Meningioma
  Pulmonary fibrosis
  Obsolete familial isolated dilated cardiomyopathy
  Severe dermatitis-multiple allergies-metabolic wasting syndrome
  Striate palmoplantar keratoderma
  Arrhythmogenic right ventricular cardiomyopathy
  Hypertrophic cardiomyopathy
  Allodynia
  Epidermolysis bullosa simplex due to plakophilin deficiency
  Pulmonary emphysema
  Skin disease
• UniProt ID: DESP_HUMAN
• PDB ID: 1LM5; 1LM7; 3R6N; 5DZZ
• Pfam ID: PF00681 ; PF17902 ; PF18373 ; PF21019
• Sequence:
  MSCNGGSHPRINTLGRMIRAESGPDLRYEVTSGGGGTSRMYYSRRGVITDQNSDGYCQTG
  TMSRHQNQNTIQELLQNCSDCLMRAELIVQPELKYGDGIQLTRSRELDECFAQANDQMEI
  LDSLIREMRQMGQPCDAYQKRLLQLQEQMRALYKAISVPRVRRASSKGGGGYTCQSGSGW
  DEFTKHVTSECLGWMRQQRAEMDMVAWGVDLASVEQHINSHRGIHNSIGDYRWQLDKIKA
  DLREKSAIYQLEEEYENLLKASFERMDHLRQLQNIIQATSREIMWINDCEEEELLYDWSD
  KNTNIAQKQEAFSIRMSQLEVKEKELNKLKQESDQLVLNQHPASDKIEAYMDTLQTQWSW
  ILQITKCIDVHLKENAAYFQFFEEAQSTEAYLKGLQDSIRKKYPCDKNMPLQHLLEQIKE
  LEKEREKILEYKRQVQNLVNKSKKIVQLKPRNPDYRSNKPIILRALCDYKQDQKIVHKGD
  ECILKDNNERSKWYVTGPGGVDMLVPSVGLIIPPPNPLAVDLSCKIEQYYEAILALWNQL
  YINMKSLVSWHYCMIDIEKIRAMTIAKLKTMRQEDYMKTIADLELHYQEFIRNSQGSEMF
  GDDDKRKIQSQFTDAQKHYQTLVIQLPGYPQHQTVTTTEITHHGTCQDVNHNKVIETNRE
  NDKQETWMLMELQKIRRQIEHCEGRMTLKNLPLADQGSSHHITVKINELKSVQNDSQAIA
  EVLNQLKDMLANFRGSEKYCYLQNEVFGLFQKLENINGVTDGYLNSLCTVRALLQAILQT
  EDMLKVYEARLTEEETVCLDLDKVEAYRCGLKKIKNDLNLKKSLLATMKTELQKAQQIHS
  QTSQQYPLYDLDLGKFGEKVTQLTDRWQRIDKQIDFRLWDLEKQIKQLRNYRDNYQAFCK
  WLYDAKRRQDSLESMKFGDSNTVMRFLNEQKNLHSEISGKRDKSEEVQKIAELCANSIKD
  YELQLASYTSGLETLLNIPIKRTMIQSPSGVILQEAADVHARYIELLTRSGDYYRFLSEM
  LKSLEDLKLKNTKIEVLEEELRLARDANSENCNKNKFLDQNLQKYQAECSQFKAKLASLE
  ELKRQAELDGKSAKQNLDKCYGQIKELNEKITRLTYEIEDEKRRRKSVEDRFDQQKNDYD
  QLQKARQCEKENLGWQKLESEKAIKEKEYEIERLRVLLQEEGTRKREYENELAKVRNHYN
  EEMSNLRNKYETEINITKTTIKEISMQKEDDSKNLRNQLDRLSRENRDLKDEIVRLNDSI
  LQATEQRRRAEENALQQKACGSEIMQKKQHLEIELKQVMQQRSEDNARHKQSLEEAAKTI
  QDKNKEIERLKAEFQEEAKRRWEYENELSKVRNNYDEEIISLKNQFETEINITKTTIHQL
  TMQKEEDTSGYRAQIDNLTRENRSLSEEIKRLKNTLTQTTENLRRVEEDIQQQKATGSEV
  SQRKQQLEVELRQVTQMRTEESVRYKQSLDDAAKTIQDKNKEIERLKQLIDKETNDRKCL
  EDENARLQRVQYDLQKANSSATETINKLKVQEQELTRLRIDYERVSQERTVKDQDITRFQ
  NSLKELQLQKQKVEEELNRLKRTASEDSCKRKKLEEELEGMRRSLKEQAIKITNLTQQLE
  QASIVKKRSEDDLRQQRDVLDGHLREKQRTQEELRRLSSEVEALRRQLLQEQESVKQAHL
  RNEHFQKAIEDKSRSLNESKIEIERLQSLTENLTKEHLMLEEELRNLRLEYDDLRRGRSE
  ADSDKNATILELRSQLQISNNRTLELQGLINDLQRERENLRQEIEKFQKQALEASNRIQE
  SKNQCTQVVQERESLLVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQI
  QNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAEIKRIEERCRRKLEDS
  TRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQL
  YECQLIDKTTLDKLLKGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLI
  SPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQIYAAEKAITGFDDPF
  SGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYR
  SLNDPRDSQKNFVDPVTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVT
  ELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYNETTKQKLGIYEAMKI
  GLVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYN
  DPETGNIISLFQAMNKELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEE
  LSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLPLKEKKKQVQTSQKNT
  LRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLV
  DRKTGSQYDIQDAIDKGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDD
  VFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDTENLEKISITEGIERG
  IVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEG
  VKGKKKMSAAEAVKEKWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRA
  AQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEAASVSSKGLPSPYNMS
  SAPGSRSGSRSGSRSGSRSGSRSGSRRGSFDATGNSSYSYSYSFSSSSIGH
• Function: Major high molecular weight protein of desmosomes. Regulates profibrotic gene expression in cardiomyocytes via activation of the MAPK14/p38 MAPK signaling cascade and increase in TGFB1 protein abundance.
• Tissue Specificity: Expressed in oral mucosa (at protein level) . Expressed in arrector pili muscle (at protein level) .; [Isoform DPI]: Apparently an obligate constituent of all desmosomes.; [Isoform DPII]: Resides predominantly in tissues and cells of stratified origin.
• KEGG Pathway:
  Cytoskeleton in muscle cells (hsa04820)
  Arrhythmogenic right ventricular cardiomyopathy (hsa05412)
• Reactome Pathway:
  Neutrophil degranulation (R-HSA-6798695)
  Keratinization (R-HSA-6805567)
  Formation of the cornified envelope (R-HSA-6809371)
  RND3 GTPase cycle (R-HSA-9696264)
  RND1 GTPase cycle (R-HSA-9696273)
  Apoptotic cleavage of cell adhesion proteins (R-HSA-351906)

Molecular Interaction Atlas (MIA) of This DOT

51 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance	REF
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	DISQEDXZ	Definitive	Autosomal dominant	[1]
Arrhythmogenic right ventricular dysplasia 8	DISC2WJ6	Definitive	Autosomal dominant	[2]
Gastric cancer	DISXGOUK	Definitive	Biomarker	[3]
Lung cancer	DISCM4YA	Definitive	Biomarker	[4]
Lung carcinoma	DISTR26C	Definitive	Biomarker	[4]
Prostate cancer	DISF190Y	Definitive	Biomarker	[5]
Prostate carcinoma	DISMJPLE	Definitive	Biomarker	[5]
Stomach cancer	DISKIJSX	Definitive	Biomarker	[3]
Adenocarcinoma	DIS3IHTY	Strong	Altered Expression	[6]
Advanced cancer	DISAT1Z9	Strong	Biomarker	[7]
Alopecia	DIS37HU4	Strong	Genetic Variation	[8]
Arrhythmia	DISFF2NI	Strong	Genetic Variation	[9]
Bullous pemphigoid	DISOJLKV	Strong	Biomarker	[10]
Cardiac failure	DISDC067	Strong	Genetic Variation	[11]
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	DISJAPEG	Strong	Autosomal dominant	[12]
Colon carcinoma	DISJYKUO	Strong	Biomarker	[13]
Congestive heart failure	DIS32MEA	Strong	Genetic Variation	[11]
Crohn disease	DIS2C5Q8	Strong	Biomarker	[14]
Dilated cardiomyopathy	DISX608J	Strong	CausalMutation	[15]
Dilated cardiomyopathy 1A	DIS0RK9Z	Strong	Genetic Variation	[16]
Esophageal squamous cell carcinoma	DIS5N2GV	Strong	Biomarker	[17]
Keratosis palmoplantaris striata 2	DISU4FYE	Strong	Autosomal dominant	[12]
Lethal acantholytic epidermolysis bullosa	DISZRB2P	Strong	Autosomal recessive	[12]
Lung neoplasm	DISVARNB	Strong	Altered Expression	[7]
Melanoma	DIS1RRCY	Strong	Altered Expression	[18]
Metastatic malignant neoplasm	DIS86UK6	Strong	Altered Expression	[19]
Motor neurone disease	DISUHWUI	Strong	Biomarker	[20]
Naxos disease	DISL5ZUP	Strong	Biomarker	[21]
Neoplasm	DISZKGEW	Strong	Biomarker	[22]
Non-small-cell lung cancer	DIS5Y6R9	Strong	Altered Expression	[7]
Oral cancer	DISLD42D	Strong	Biomarker	[19]
Oropharyngeal carcinoma	DIS7K3AI	Strong	Altered Expression	[19]
Osteoarthritis	DIS05URM	Strong	Biomarker	[23]
Skin fragility-woolly hair-palmoplantar keratoderma syndrome	DISGWSI8	Strong	Autosomal recessive	[12]
Squamous cell carcinoma	DISQVIFL	Strong	Altered Expression	[19]
Toxic epidermal necrolysis	DISIWPFR	Strong	Biomarker	[24]
Ventricular tachycardia	DISIBXJ3	Strong	Genetic Variation	[25]
Woolly hair-skin fragility syndrome	DISS2UEJ	Strong	Biomarker	[26]
Chronic obstructive pulmonary disease	DISQCIRF	moderate	Genetic Variation	[27]
Long QT syndrome 1	DISXK5OU	moderate	CausalMutation	[28]
Meningioma	DISPT4TG	moderate	Altered Expression	[29]
Pulmonary fibrosis	DISQKVLA	moderate	Genetic Variation	[30]
Obsolete familial isolated dilated cardiomyopathy	DIS4FXO4	Supportive	Autosomal dominant	[26]
Severe dermatitis-multiple allergies-metabolic wasting syndrome	DIS1TEJB	Supportive	Autosomal recessive	[31]
Striate palmoplantar keratoderma	DISLGEYP	Supportive	Autosomal dominant	[32]
Arrhythmogenic right ventricular cardiomyopathy	DIS3V2BE	Disputed	Genetic Variation	[33]
Hypertrophic cardiomyopathy	DISQG2AI	Disputed	Autosomal dominant	[1]
Allodynia	DISQFDGF	Limited	Genetic Variation	[34]
Epidermolysis bullosa simplex due to plakophilin deficiency	DISAIFGB	Limited	Genetic Variation	[35]
Pulmonary emphysema	DIS5M7HZ	Limited	Genetic Variation	[36]
Skin disease	DISDW8R6	Limited	Genetic Variation	[37]

This DOT Affected the Drug Response of 2 Drug(s)

Drug Name	Drug ID	Highest Status	Interaction	REF
Paclitaxel	DMLB81S	Approved	Desmoplakin (DSP) affects the response to substance of Paclitaxel.	[58]
Topotecan	DMP6G8T	Approved	Desmoplakin (DSP) affects the response to substance of Topotecan.	[58]

18 Drug(s) Affected the Gene/Protein Processing of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Valproate	DMCFE9I	Approved	Valproate decreases the expression of Desmoplakin (DSP).	[38]
Tretinoin	DM49DUI	Approved	Tretinoin increases the expression of Desmoplakin (DSP).	[39]
Doxorubicin	DMVP5YE	Approved	Doxorubicin increases the expression of Desmoplakin (DSP).	[40]
Cupric Sulfate	DMP0NFQ	Approved	Cupric Sulfate increases the expression of Desmoplakin (DSP).	[41]
Arsenic trioxide	DM61TA4	Approved	Arsenic trioxide increases the expression of Desmoplakin (DSP).	[42]
Calcitriol	DM8ZVJ7	Approved	Calcitriol increases the expression of Desmoplakin (DSP).	[43]
Marinol	DM70IK5	Approved	Marinol decreases the expression of Desmoplakin (DSP).	[44]
Malathion	DMXZ84M	Approved	Malathion increases the expression of Desmoplakin (DSP).	[45]
Permethrin	DMZ0Q1G	Approved	Permethrin increases the expression of Desmoplakin (DSP).	[45]
Cocaine	DMSOX7I	Approved	Cocaine increases the expression of Desmoplakin (DSP).	[46]
Urethane	DM7NSI0	Phase 4	Urethane increases the expression of Desmoplakin (DSP).	[48]
Leflunomide	DMR8ONJ	Phase 1 Trial	Leflunomide increases the expression of Desmoplakin (DSP).	[50]
PMID28460551-Compound-2	DM4DOUB	Patented	PMID28460551-Compound-2 decreases the expression of Desmoplakin (DSP).	[51]
SB-431542	DM0YOXQ	Preclinical	SB-431542 increases the expression of Desmoplakin (DSP).	[53]
Bisphenol A	DM2ZLD7	Investigative	Bisphenol A increases the expression of Desmoplakin (DSP).	[54]
Trichostatin A	DM9C8NX	Investigative	Trichostatin A increases the expression of Desmoplakin (DSP).	[55]
Butanoic acid	DMTAJP7	Investigative	Butanoic acid increases the expression of Desmoplakin (DSP).	[56]
ORG2058	DMH1M6N	Investigative	ORG2058 increases the expression of Desmoplakin (DSP).	[57]

1 Drug(s) Affected the Protein Interaction/Cellular Processes of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Dihydroartemisinin	DMBXVMZ	Approved	Dihydroartemisinin affects the binding of Desmoplakin (DSP).	[47]

3 Drug(s) Affected the Post-Translational Modifications of This DOT

Drug Name	Drug ID	Highest Status	Interaction	REF
Benzo(a)pyrene	DMN7J43	Phase 1	Benzo(a)pyrene increases the methylation of Desmoplakin (DSP).	[49]
PMID28870136-Compound-52	DMFDERP	Patented	PMID28870136-Compound-52 affects the phosphorylation of Desmoplakin (DSP).	[52]
Coumarin	DM0N8ZM	Investigative	Coumarin decreases the phosphorylation of Desmoplakin (DSP).	[52]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework. Circ Genom Precis Med. 2021 Jun;14(3):e003273. doi: 10.1161/CIRCGEN.120.003273. Epub 2021 Apr 8.
• [3] LncRNA MIR4435-2HG targets desmoplakin and promotes growth and metastasis of gastric cancer by activating Wnt/-catenin signaling.Aging (Albany NY). 2019 Sep 4;11(17):6657-6673. doi: 10.18632/aging.102164. Epub 2019 Sep 4.
• [4] RNA sequencing identifies novel markers of non-small cell lung cancer.Lung Cancer. 2014 Jun;84(3):229-35. doi: 10.1016/j.lungcan.2014.03.018. Epub 2014 Mar 26.
• [5] Syndecan-1 up-regulates microRNA-331-3p and mediates epithelial-to-mesenchymal transition in prostate cancer.Mol Carcinog. 2016 Sep;55(9):1378-86. doi: 10.1002/mc.22381. Epub 2015 Aug 10.
• [6] Differential expression and biodistribution of cytokeratin 18 and desmoplakins in non-small cell lung carcinoma subtypes.Lung Cancer. 2002 May;36(2):133-41. doi: 10.1016/s0169-5002(01)00486-x.
• [7] Desmoplakin acts as a tumor suppressor by inhibition of the Wnt/-catenin signaling pathway in human lung cancer.Carcinogenesis. 2012 Oct;33(10):1863-70. doi: 10.1093/carcin/bgs226. Epub 2012 Jul 12.
• [8] A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.Arch Dermatol Res. 2015 Nov;307(9):793-801. doi: 10.1007/s00403-015-1590-y. Epub 2015 Jul 7.
• [9] Desmoplakin maintains gap junctions by inhibiting Ras/MAPK and lysosomal degradation of connexin-43.J Cell Biol. 2018 Sep 3;217(9):3219-3235. doi: 10.1083/jcb.201710161. Epub 2018 Jun 29.
• [10] The molecular genetics of basement membrane diseases.Arch Dermatol. 1993 Dec;129(12):1557-65.
• [11] Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J. 2015 Apr 7;36(14):847-55. doi: 10.1093/eurheartj/ehu509. Epub 2015 Jan 23.
• [12] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [13] CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation.PLoS One. 2015 Aug 4;10(8):e0134789. doi: 10.1371/journal.pone.0134789. eCollection 2015.
• [14] Serological Epithelial Component Proteins Identify Intestinal Complications in Crohn's Disease.Mol Cell Proteomics. 2017 Jul;16(7):1244-1257. doi: 10.1074/mcp.M116.066506. Epub 2017 May 10.
• [15] Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
• [16] Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.Eur Heart J Cardiovasc Imaging. 2020 Mar 1;21(3):326-336. doi: 10.1093/ehjci/jez188.
• [17] Prognostic significance of desmoglein 2 and desmoglein 3 in esophageal squamous cell carcinoma.Asian Pac J Cancer Prev. 2014;15(2):871-6. doi: 10.7314/apjcp.2014.15.2.871.
• [18] Microarray analysis of phosphatase gene expression in human melanoma.Br J Dermatol. 2005 May;152(5):925-30. doi: 10.1111/j.1365-2133.2005.06454.x.
• [19] Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer.Hum Pathol. 2009 Sep;40(9):1320-9. doi: 10.1016/j.humpath.2009.02.002. Epub 2009 Apr 22.
• [20] DSP-01 Barriers to the diagnosis of motor neuron disease - a South Australian study.Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):289-300. doi: 10.1080/21678421.2019.1646998.
• [21] Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.Orphanet J Rare Dis. 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4.
• [22] One-pot synthesis of SiO(2)-coated Gd(2)(WO(4))(3):Yb(3+)/Ho(3+) nanoparticles for simultaneous multi-imaging, temperature sensing and tumor inhibition.Dalton Trans. 2019 Jul 16;48(28):10537-10546. doi: 10.1039/c9dt01841g.
• [23] Protein interaction and microRNA network analysis in osteoarthritis meniscal cells.Genet Mol Res. 2013 Mar 13;12(1):738-46. doi: 10.4238/2013.March.13.2.
• [24] Pattern-Specific Loss of Desmoplakin I and II Immunoreactivity in Erythema Multiforme and its Variants: A Possible Aid in Histologic Diagnosis.Am J Dermatopathol. 2020 Feb;42(2):111-116. doi: 10.1097/DAD.0000000000001545.
• [25] Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.Heart Rhythm. 2011 Aug;8(8):1214-21. doi: 10.1016/j.hrthm.2011.03.015. Epub 2011 Mar 10.
• [26] Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. Pediatr Cardiol. 2019 Jun;40(5):950-957. doi: 10.1007/s00246-019-02096-1. Epub 2019 Apr 16.
• [27] Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.Nat Genet. 2019 Mar;51(3):494-505. doi: 10.1038/s41588-018-0342-2. Epub 2019 Feb 25.
• [28] Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.Br J Dermatol. 2019 May;180(5):1114-1122. doi: 10.1111/bjd.17388. Epub 2019 Jan 2.
• [29] A genetic strategy to overcome the senescence of primary meningioma cell cultures.J Neurooncol. 2006 Jun;78(2):113-21. doi: 10.1007/s11060-005-9076-y. Epub 2006 Mar 23.
• [30] A Novel Variant of Desmoplakin Is Potentially Associated with Silicosis Risk.DNA Cell Biol. 2018 Nov;37(11):925-931. doi: 10.1089/dna.2018.4370. Epub 2018 Sep 12.
• [31] Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol. 2015 Nov;136(5):1268-76. doi: 10.1016/j.jaci.2015.05.002. Epub 2015 Jun 12.
• [32] Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet. 1999 Jan;8(1):143-8. doi: 10.1093/hmg/8.1.143.
• [33] How ARVC-Related Mutations Destabilize Desmoplakin: An MD Study.Biophys J. 2019 Mar 5;116(5):831-835. doi: 10.1016/j.bpj.2019.01.023. Epub 2019 Jan 30.
• [34] Severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome caused by de novo mutation in the DSP gene misdiagnosed as generalized pustular psoriasis and treatment of acitretin with gabapentin.J Dermatol. 2019 Jul;46(7):622-625. doi: 10.1111/1346-8138.14925. Epub 2019 May 20.
• [35] Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.Br J Dermatol. 2009 Mar;160(3):692-7. doi: 10.1111/j.1365-2133.2008.08900.x. Epub 2008 Oct 21.
• [36] DSP variants may be associated with longitudinal change in quantitative emphysema.Respir Res. 2019 Jul 19;20(1):160. doi: 10.1186/s12931-019-1097-8.
• [37] Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation.Micron. 2018 Mar;106:27-33. doi: 10.1016/j.micron.2017.12.005. Epub 2017 Dec 19.
• [38] Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
• [39] Development of a neural teratogenicity test based on human embryonic stem cells: response to retinoic acid exposure. Toxicol Sci. 2011 Dec;124(2):370-7.
• [40] Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
• [41] Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
• [42] Proteomics-based identification of differentially abundant proteins from human keratinocytes exposed to arsenic trioxide. J Proteomics Bioinform. 2014 Jul;7(7):166-178.
• [43] Identification of vitamin D3 target genes in human breast cancer tissue. J Steroid Biochem Mol Biol. 2016 Nov;164:90-97.
• [44] THC exposure of human iPSC neurons impacts genes associated with neuropsychiatric disorders. Transl Psychiatry. 2018 Apr 25;8(1):89. doi: 10.1038/s41398-018-0137-3.
• [45] Exposure to Insecticides Modifies Gene Expression and DNA Methylation in Hematopoietic Tissues In Vitro. Int J Mol Sci. 2023 Mar 26;24(7):6259. doi: 10.3390/ijms24076259.
• [46] Cytosolic proteomic alterations in the nucleus accumbens of cocaine overdose victims. Mol Psychiatry. 2007 Jan;12(1):55-73. doi: 10.1038/sj.mp.4001914. Epub 2006 Oct 31.
• [47] Untargeted Proteomics and Systems-Based Mechanistic Investigation of Artesunate in Human Bronchial Epithelial Cells. Chem Res Toxicol. 2015 Oct 19;28(10):1903-13. doi: 10.1021/acs.chemrestox.5b00105. Epub 2015 Sep 21.
• [48] Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
• [49] Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.
• [50] Endoplasmic reticulum stress and MAPK signaling pathway activation underlie leflunomide-induced toxicity in HepG2 Cells. Toxicology. 2017 Dec 1;392:11-21.
• [51] Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
• [52] Quantitative phosphoproteomics reveal cellular responses from caffeine, coumarin and quercetin in treated HepG2 cells. Toxicol Appl Pharmacol. 2022 Aug 15;449:116110. doi: 10.1016/j.taap.2022.116110. Epub 2022 Jun 7.
• [53] Activin/nodal signaling switches the terminal fate of human embryonic stem cell-derived trophoblasts. J Biol Chem. 2015 Apr 3;290(14):8834-48.
• [54] Characterization of the Molecular Alterations Induced by the Prolonged Exposure of Normal Colon Mucosa and Colon Cancer Cells to Low-Dose Bisphenol A. Int J Mol Sci. 2022 Oct 1;23(19):11620. doi: 10.3390/ijms231911620.
• [55] From transient transcriptome responses to disturbed neurodevelopment: role of histone acetylation and methylation as epigenetic switch between reversible and irreversible drug effects. Arch Toxicol. 2014 Jul;88(7):1451-68.
• [56] MS4A3-HSP27 target pathway reveals potential for haematopoietic disorder treatment in alimentary toxic aleukia. Cell Biol Toxicol. 2023 Feb;39(1):201-216. doi: 10.1007/s10565-021-09639-4. Epub 2021 Sep 28.
• [57] The antiproliferative effects of progestins in T47D breast cancer cells are tempered by progestin induction of the ETS transcription factor Elf5. Mol Endocrinol. 2010 Jul;24(7):1380-92. doi: 10.1210/me.2009-0516. Epub 2010 Jun 2.
• [58] Gene expression profiling of 30 cancer cell lines predicts resistance towards 11 anticancer drugs at clinically achieved concentrations. Int J Cancer. 2006 Apr 1;118(7):1699-712. doi: 10.1002/ijc.21570.