Details of Disease

General Information of Disease (ID: DISMDAYM)

• Disease Name: Aplasia cutis congenita
• Synonyms: aplasia cutis congenita, nonsyndromic; scalp defect congenital; scalp defect, congenital; ACC; congenital defect of skull and scalp; aplasia cutis congenita nonsyndromic; aplasia cutis congenita; aplasia cutis congenita recessive; aplasia cutis congenita (disease)
• Definition: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.
• Disease Hierarchy:
  DISZQZB4: Mixed dermis disorder
  DISSCALK: Hereditary skin disorder
  DISMDAYM: Aplasia cutis congenita
• Disease Identifiers:
  MONDO ID: MONDO_0007145
  MESH ID: D004476
  UMLS CUI: C0282160
  OMIM ID: 107600
  MedGen ID: 79390
  HPO ID: HP:0001057
  Orphanet ID: 1114
  SNOMED CT ID: 254237003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 36 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACTG1	TTGAZF9	Limited	Biomarker	[1]
BBC3	TT7JUKC	Limited	Altered Expression	[2]
COL7A1	TTBCOKN	Limited	Genetic Variation	[3]
CYP11B1	TTIQUX7	Limited	Biomarker	[4]
DGKZ	TTSBBXL	Limited	Biomarker	[5]
FSCN1	TTTRS9B	Limited	Biomarker	[6]
HCN2	TT9EUT4	Limited	Biomarker	[7]
HSD17B4	TTL1WGS	Limited	Altered Expression	[8]
LHCGR	TT2O4W9	Limited	Biomarker	[9]
LONP1	TTM1VPZ	Limited	Altered Expression	[10]
LY96	TT8S9AV	Limited	Altered Expression	[11]
NNT	TTKIH76	Limited	Biomarker	[12]
PCYT1B	TTUAIKM	Limited	Genetic Variation	[13]
PRKACA	TT5U49F	Limited	Genetic Variation	[14]
SLC40A1	TT6Y1PG	Limited	Altered Expression	[15]
UBC	TTBP3XA	Limited	Biomarker	[16]
DLL4	TTV23LH	Supportive	Autosomal dominant	[17]
ASIC2	TTVMWLP	moderate	Altered Expression	[18]
DLL4	TTV23LH	moderate	Genetic Variation	[17]
GAA	TTLPC70	moderate	Genetic Variation	[19]
HDC	TTV9GOF	moderate	Altered Expression	[20]
HRH3	TT9JNIC	moderate	Altered Expression	[20]
TFAP2A	TTDY4BS	moderate	Genetic Variation	[21]
ACACB	TTY84UG	Strong	Biomarker	[22]
ADK	TTL732K	Strong	Genetic Variation	[23]
BCL2A1	TTGT9C7	Strong	Biomarker	[22]
BIRC7	TTHZ8TA	Strong	Altered Expression	[24]
CDA	TTQ12RK	Strong	Biomarker	[25]
ESRRA	TTPNQAC	Strong	Altered Expression	[26]
IGF2	TTE8WGO	Strong	Biomarker	[27]
NAGLU	TTDM6HZ	Strong	Biomarker	[24]
PDE11A	TTTWC79	Strong	Genetic Variation	[28]
RHOA	TTP2U16	Strong	Biomarker	[29]
RUNX3	TTKCVO7	Strong	Altered Expression	[30]
TOP2A	TTCGY2K	Strong	Altered Expression	[31]
MC2R	TTPWFDX	Definitive	Biomarker	[32]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP26C1	DEXNDR0	Limited	Biomarker	[33]
SULT2A1	DE0P6LK	Limited	Biomarker	[34]

This Disease Is Related to 65 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACACA	OT5CQPZY	Limited	Posttranslational Modification	[35]
ACADVL	OT50L4XB	Limited	Altered Expression	[36]
ACOT7	OT7C68YV	Limited	Biomarker	[1]
ACTBL2	OTD6B81U	Limited	Biomarker	[1]
ACTG2	OTRDWUO0	Limited	Biomarker	[1]
ALOX15B	OTWQQ08W	Limited	Altered Expression	[36]
ARHGAP31	OTUYTF4I	Limited	Genetic Variation	[37]
BARD1	OTTC0Z9Y	Limited	Altered Expression	[38]
BCL9	OTRBIPR4	Limited	Altered Expression	[39]
BUB1B	OT8KME51	Limited	Biomarker	[40]
CORO7	OTG7MEAJ	Limited	Biomarker	[41]
CTBS	OT135K92	Limited	Genetic Variation	[13]
DCUN1D1	OT8UJLZU	Limited	Altered Expression	[42]
DDT	OTF5HTYL	Limited	Biomarker	[43]
DDX23	OTBJHS8C	Limited	Genetic Variation	[44]
EN1	OT2DKIDK	Limited	Biomarker	[45]
EOGT	OT4A2A8P	Limited	Genetic Variation	[37]
FABP7	OTRE2H4G	Limited	Altered Expression	[46]
FATE1	OTPYXV64	Limited	Altered Expression	[47]
FHL5	OT6C00Z1	Limited	Biomarker	[1]
HMSD	OTGR7BCP	Limited	Biomarker	[48]
KREMEN1	OTGJFSAC	Limited	Genetic Variation	[49]
KRT15	OTS6WLF7	Limited	Biomarker	[50]
MAML2	OT1TSVAR	Limited	Biomarker	[51]
MED27	OT40PZ9R	Limited	Altered Expression	[52]
MRAP2	OTCQS7DB	Limited	Altered Expression	[53]
NR5A1	OTOULYR4	Limited	Biomarker	[6]
NUMA1	OTTKAVG4	Limited	Biomarker	[54]
OBP2A	OTBIJ5TI	Limited	Biomarker	[55]
PA2G4	OT7IG7HT	Limited	Biomarker	[56]
POTEM	OT7L2HGH	Limited	Biomarker	[1]
RARRES2	OT1BJE8K	Limited	Biomarker	[57]
SBSN	OT89RKJH	Limited	Biomarker	[58]
SERPINA3	OT9BP2S0	Limited	Biomarker	[1]
SFPQ	OTLCIAPJ	Limited	Biomarker	[59]
SKA1	OTDYJ12A	Limited	Biomarker	[60]
SMARCA2	OTSGJ8SV	Limited	Biomarker	[61]
SPEN	OT37A2MD	Limited	Genetic Variation	[62]
BMS1	OTEGQ8ZO	Supportive	Autosomal dominant	[63]
DLL4	OTRA4K2V	Supportive	Autosomal dominant	[17]
ITGB4	OT28UK84	Supportive	Autosomal dominant	[64]
PLEC	OTU4XDEG	Supportive	Autosomal dominant	[64]
GLYAT	OT3WWYXD	moderate	Genetic Variation	[19]
KCTD1	OT89U5MB	moderate	Genetic Variation	[21]
NAGA	OTNUEUZY	moderate	Biomarker	[65]
PRKAB1	OT1OG4QZ	moderate	Biomarker	[66]
ARMC5	OTO7IV74	Strong	Biomarker	[67]
DOCK6	OTPNUVLT	Strong	Genetic Variation	[37]
ELAVL2	OT6EJ8MQ	Strong	Altered Expression	[16]
GEMIN2	OT4L6TLL	Strong	Altered Expression	[68]
INHA	OT7HWCO3	Strong	Genetic Variation	[69]
MYBL1	OTBJMC2P	Strong	Altered Expression	[70]
NBAS	OTW9IBRI	Strong	Biomarker	[24]
NCOA1	OTLIUJQD	Strong	Biomarker	[71]
NDRG4	OTJBOTD8	Strong	Altered Expression	[72]
NEUROG3	OT6DIPWC	Strong	Genetic Variation	[73]
PELP1	OTVXQNOT	Strong	Biomarker	[74]
PRKAA1	OT7TNF0L	Strong	Biomarker	[66]
PRKAA2	OTU1KZPV	Strong	Biomarker	[66]
SCAF11	OTX59D0X	Strong	Altered Expression	[68]
SCN7A	OTK05PXY	Strong	Biomarker	[24]
SF1	OTLEDM2S	Strong	Biomarker	[75]
SGTA	OTKOJ3JB	Strong	Genetic Variation	[76]
SOX10	OTF25ULQ	Strong	Altered Expression	[77]
TFAP2C	OTUDIW05	Strong	Altered Expression	[78]

References

• [1] Adrenocortical carcinoma -- improving patient care by establishing new structures.Exp Clin Endocrinol Diabetes. 2006 Feb;114(2):45-51. doi: 10.1055/s-2006-923808.
• [2] Downregulation of miR-222 Induces Apoptosis and Cellular Migration in Adenoid Cystic Carcinoma Cells.Oncol Res. 2017 Jan 26;25(2):207-214. doi: 10.3727/096504016X14732772150460.
• [3] Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.Br J Dermatol. 2014 Apr;170(4):901-6. doi: 10.1111/bjd.12741.
• [4] H-score of 11-hydroxylase and aldosterone synthase in the histopathological diagnosis of adrenocortical tumors.Endocrine. 2019 Sep;65(3):683-691. doi: 10.1007/s12020-019-02022-8. Epub 2019 Jul 22.
• [5] Establishing a human adrenocortical carcinoma (ACC)-specific gene mutation signature.Cancer Genet. 2019 Jan;230:1-12. doi: 10.1016/j.cancergen.2018.10.005. Epub 2018 Nov 9.
• [6] Fascin-1 Is a Novel Prognostic Biomarker Associated With Tumor Invasiveness in Adrenocortical Carcinoma.J Clin Endocrinol Metab. 2019 May 1;104(5):1712-1724. doi: 10.1210/jc.2018-01717.
• [7] Identification of methylated genes in salivary gland adenoid cystic carcinoma xenografts using global demethylation and methylation microarray screening.Int J Oncol. 2016 Jul;49(1):225-34. doi: 10.3892/ijo.2016.3532. Epub 2016 May 18.
• [8] Overexpression of HSD17B4 exerts tumor suppressive function in adrenocortical carcinoma and is not associated with hormone excess.Oncotarget. 2017 Dec 1;8(70):114736-114745. doi: 10.18632/oncotarget.22827. eCollection 2017 Dec 29.
• [9] Feminizing Adrenocortical Carcinoma: The Source of Estrogen Production and the Role of Adrenal-Gonadal Dedifferentiation.J Clin Endocrinol Metab. 2018 Oct 1;103(10):3706-3713. doi: 10.1210/jc.2018-00689.
• [10] Expression of PIM-1 in salivary gland adenoid cystic carcinoma: Association with tumor progression and patients' prognosis.Oncol Lett. 2018 Jan;15(1):1149-1156. doi: 10.3892/ol.2017.7408. Epub 2017 Nov 14.
• [11] Abrogation of TLR4 and CD14 expression and signaling in human adrenocortical tumors.J Clin Endocrinol Metab. 2010 Dec;95(12):E421-9. doi: 10.1210/jc.2010-1100. Epub 2010 Sep 8.
• [12] Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma.Endocrinology. 2018 Aug 1;159(8):2836-2849. doi: 10.1210/en.2018-00014.
• [13] Competing Endogenous RNA Network Analysis Reveals Pivotal ceRNAs in Adrenocortical Carcinoma.Front Endocrinol (Lausanne). 2019 May 15;10:301. doi: 10.3389/fendo.2019.00301. eCollection 2019.
• [14] ENDOCRINE TUMOURS: The genomics of adrenocortical tumors.Eur J Endocrinol. 2016 Jun;174(6):R249-65. doi: 10.1530/EJE-15-1118. Epub 2016 Jan 6.
• [15] Reduced expression of ferroportin1 and ceruloplasmin predicts poor prognosis in adrenocortical carcinoma.J Trace Elem Med Biol. 2019 Dec;56:52-59. doi: 10.1016/j.jtemb.2019.07.009. Epub 2019 Jul 23.
• [16] Identification of key modules and prognostic markers in adrenocortical carcinoma by weighted gene co-expression network analysis.Oncol Lett. 2019 Oct;18(4):3673-3681. doi: 10.3892/ol.2019.10725. Epub 2019 Aug 6.
• [17] Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20.
• [18] Identification of acid-sensing ion channels in adenoid cystic carcinomas.Biochem Biophys Res Commun. 2007 Apr 20;355(4):986-92. doi: 10.1016/j.bbrc.2007.02.061. Epub 2007 Feb 20.
• [19] Expression and mutational analysis of the DCC, DPC4, and MADR2/JV18-1 genes in neuroblastoma.Cancer Res. 1997 Sep 1;57(17):3772-8.
• [20] Differences in the expression of histamine-related genes and proteins in normal human adrenal cortex and adrenocortical tumors.Virchows Arch. 2009 Aug;455(2):133-42. doi: 10.1007/s00428-009-0807-x. Epub 2009 Jul 1.
• [21] Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28.
• [22] Development of an Adrenocortical Cancer Humanized Mouse Model to Characterize Anti-PD1 Effects on Tumor Microenvironment.J Clin Endocrinol Metab. 2020 Jan 1;105(1):26-42. doi: 10.1210/clinem/dgz014.
• [23] Vascular endothelial growth factor (VEGF) expression and microvascular density in salivary gland tumours.APMIS. 2014 May;122(5):418-26. doi: 10.1111/apm.12160. Epub 2013 Aug 13.
• [24] Livin/BIRC7 expression as malignancy marker in adrenocortical tumors.Oncotarget. 2017 Feb 7;8(6):9323-9338. doi: 10.18632/oncotarget.14067.
• [25] Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy.Proc Natl Acad Sci U S A. 2019 Nov 5;116(45):22730-22736. doi: 10.1073/pnas.1911385116. Epub 2019 Oct 17.
• [26] Estrogen related receptor (ERR) a promising target for the therapy of adrenocortical carcinoma (ACC).Oncotarget. 2015 Sep 22;6(28):25135-48. doi: 10.18632/oncotarget.4722.
• [27] IGF2 role in adrenocortical carcinoma biology.Endocrine. 2019 Nov;66(2):326-337. doi: 10.1007/s12020-019-02033-5. Epub 2019 Aug 4.
• [28] Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.Clin Cancer Res. 2008 Jun 15;14(12):4016-24. doi: 10.1158/1078-0432.CCR-08-0106.
• [29] Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30.
• [30] Pim-1 acts as an oncogene in human salivary gland adenoid cystic carcinoma.J Exp Clin Cancer Res. 2014 Dec 31;33(1):114. doi: 10.1186/s13046-014-0114-5.
• [31] Topoisomerase 2 and thymidylate synthase expression in adrenocortical cancer.Endocr Relat Cancer. 2017 Jul;24(7):319-327. doi: 10.1530/ERC-17-0095. Epub 2017 Apr 21.
• [32] Anti-hMC2RL1 Functionalized Gold Nanoparticles for Adrenocortical Tumor Cells Targeting and Imaging.J Biomed Nanotechnol. 2017 Jan;13(1):68-76. doi: 10.1166/jbn.2017.2331.
• [33] A case of focal facial dermal dysplasia type 4.Pediatr Dermatol. 2019 Jan;36(1):e58-e59. doi: 10.1111/pde.13730. Epub 2018 Dec 18.
• [34] Plasma steroid metabolome profiling for the diagnosis of adrenocortical carcinoma.Eur J Endocrinol. 2019 Feb 1;180(2):117-125. doi: 10.1530/EJE-18-0782.
• [35] Exercise-induced AMPK activation and IL-6 muscle production are disturbed in adiponectin knockout mice.Cytokine. 2019 Jul;119:71-80. doi: 10.1016/j.cyto.2019.03.009. Epub 2019 Mar 20.
• [36] Loss of heterozygosity of 17p13, with possible involvement of ACADVL and ALOX15B, in the pathogenesis of adrenocortical tumors.Ann Surg. 2008 Jan;247(1):157-64. doi: 10.1097/SLA.0b013e318153ff55.
• [37] Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4.
• [38] Immunohistochemical validation of overexpressed genes identified by global expression microarrays in adrenocortical carcinoma reveals potential predictive and prognostic biomarkers.Oncologist. 2015 Mar;20(3):247-56. doi: 10.1634/theoncologist.2014-0392. Epub 2015 Feb 5.
• [39] BCL9 Upregulation in Adrenocortical Carcinoma: A Novel Wnt/-Catenin Activating Event Driving Adrenocortical Malignancy.J Am Coll Surg. 2018 Jun;226(6):988-995. doi: 10.1016/j.jamcollsurg.2018.01.051. Epub 2018 Feb 8.
• [40] Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma.Clin Cancer Res. 2019 Jun 1;25(11):3276-3288. doi: 10.1158/1078-0432.CCR-18-2693. Epub 2019 Feb 15.
• [41] POD-1 binding to the E-box sequence inhibits SF-1 and StAR expression in human adrenocortical tumor cells.Mol Cell Endocrinol. 2013 May 22;371(1-2):140-7. doi: 10.1016/j.mce.2012.12.029. Epub 2013 Jan 9.
• [42] Squamous cell carcinoma-related oncogene is highly expressed in developing, normal, and adenomatous adrenal tissue but not in aggressive adrenocortical carcinomas.Surgery. 2004 Dec;136(6):1122-8. doi: 10.1016/j.surg.2004.06.041.
• [43] Exquisite sensitivity of adrenocortical carcinomas to induction of ferroptosis.Proc Natl Acad Sci U S A. 2019 Oct 29;116(44):22269-22274. doi: 10.1073/pnas.1912700116. Epub 2019 Oct 14.
• [44] Transcription Dynamics Prevent RNA-Mediated Genomic Instability through SRPK2-Dependent DDX23 Phosphorylation.Cell Rep. 2017 Jan 10;18(2):334-343. doi: 10.1016/j.celrep.2016.12.050.
• [45] Developmental transcription factor EN1--a novel biomarker in human salivary gland adenoid cystic carcinoma.Cancer. 2012 Mar 1;118(5):1288-92. doi: 10.1002/cncr.26412. Epub 2011 Jul 28.
• [46] The Prognostic Significance of Notch1 and Fatty Acid Binding Protein 7 (FABP7) Expression in Resected Tracheobronchial Adenoid Cystic Carcinoma: A Multicenter Retrospective Study.Cancer Res Treat. 2018 Oct;50(4):1064-1073. doi: 10.4143/crt.2017.337. Epub 2017 Nov 15.
• [47] FATE1 antagonizes calcium- and drug-induced apoptosis by uncoupling ER and mitochondria.EMBO Rep. 2016 Sep;17(9):1264-80. doi: 10.15252/embr.201541504. Epub 2016 Jul 11.
• [48] Downregulation of runt-related transcription factor 3 associated with poor prognosis of adenoid cystic and mucoepidermoid carcinomas of the salivary gland.Cancer Sci. 2011 Feb;102(2):492-7. doi: 10.1111/j.1349-7006.2010.01787.x. Epub 2010 Nov 24.
• [49] Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.J Clin Endocrinol Metab. 2015 Mar;100(3):E493-502. doi: 10.1210/jc.2014-3282. Epub 2014 Dec 9.
• [50] Detection of MYB Alterations and Other Immunohistochemical Markers in Primary Cutaneous Adenoid Cystic Carcinoma.Am J Surg Pathol. 2015 Oct;39(10):1347-56. doi: 10.1097/PAS.0000000000000463.
• [51] Immunohistochemical and molecular profile of salivary gland cancer in children.Pediatr Blood Cancer. 2017 Sep;64(9). doi: 10.1002/pbc.26468. Epub 2017 Jan 31.
• [52] Silencing of MED27 inhibits adrenal cortical carcinogenesis by targeting the Wnt/-catenin signaling pathway and the epithelial-mesenchymal transition process.Biol Chem. 2018 May 24;399(6):593-602. doi: 10.1515/hsz-2017-0304.
• [53] Melanocortin 2 receptor-associated protein (MRAP) and MRAP2 in human adrenocortical tissues: regulation of expression and association with ACTH responsiveness.J Clin Endocrinol Metab. 2012 May;97(5):E747-54. doi: 10.1210/jc.2011-2328. Epub 2012 Mar 14.
• [54] Detailed genome-wide SNP analysis of major salivary carcinomas localizes subtype-specific chromosome sites and oncogenes of potential clinical significance.Am J Pathol. 2013 Jun;182(6):2048-57. doi: 10.1016/j.ajpath.2013.02.020. Epub 2013 Apr 10.
• [55] Antitumor effects of telomerase-specific replication-selective oncolytic viruses for adenoid cystic carcinoma cell lines.Oncol Rep. 2013 Dec;30(6):2659-64. doi: 10.3892/or.2013.2738. Epub 2013 Sep 19.
• [56] The downregulation of ErbB3 binding protein 1 (EBP1) is associated with poor prognosis and enhanced cell proliferation in hepatocellular carcinoma.Mol Cell Biochem. 2014 Nov;396(1-2):175-85. doi: 10.1007/s11010-014-2153-9. Epub 2014 Aug 1.
• [57] RARRES2 functions as a tumor suppressor by promoting -catenin phosphorylation/degradation and inhibiting p38 phosphorylation in adrenocortical carcinoma.Oncogene. 2017 Jun 22;36(25):3541-3552. doi: 10.1038/onc.2016.497. Epub 2017 Jan 23.
• [58] Suprabasin is hypomethylated and associated with metastasis in salivary adenoid cystic carcinoma.PLoS One. 2012;7(11):e48582. doi: 10.1371/journal.pone.0048582. Epub 2012 Nov 7.
• [59] Reciprocal interplay of miR-497 and MALAT1 promotes tumourigenesis of adrenocortical cancer.Endocr Relat Cancer. 2019 Jul;26(7):677-688. doi: 10.1530/ERC-19-0036.
• [60] Knockdown of SKA1 gene inhibits cell proliferation and metastasis in human adenoid cystic carcinoma.Biomed Pharmacother. 2017 Jun;90:8-14. doi: 10.1016/j.biopha.2017.03.029. Epub 2017 Mar 21.
• [61] Advanced adenoid cystic carcinoma (ACC) is featured by SWI/SNF chromatin remodeling complex aberrations.J Cancer Res Clin Oncol. 2019 Jan;145(1):201-211. doi: 10.1007/s00432-018-2783-5. Epub 2018 Oct 31.
• [62] Whole exome sequencing of adenoid cystic carcinoma.J Clin Invest. 2013 Jul;123(7):2965-8. doi: 10.1172/JCI67201. Epub 2013 Jun 17.
• [63] BMS1 is mutated in aplasia cutis congenita. PLoS Genet. 2013 Jun;9(6):e1003573. doi: 10.1371/journal.pgen.1003573. Epub 2013 Jun 13.
• [64] Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants. Am J Med Genet A. 2019 Aug;179(8):1547-1555. doi: 10.1002/ajmg.a.61260. Epub 2019 Jun 11.
• [65] High-molecular-weight fibronectin synthesized by adenoid cystic carcinoma cells of salivary gland origin.Jpn J Cancer Res. 1999 Mar;90(3):308-19. doi: 10.1111/j.1349-7006.1999.tb00749.x.
• [66] Pyridostigmine alleviates cardiac dysfunction via improving mitochondrial cristae shape in a mouse model of metabolic syndrome.Free Radic Biol Med. 2019 Apr;134:119-132. doi: 10.1016/j.freeradbiomed.2019.01.011. Epub 2019 Jan 10.
• [67] An update on adrenal endocrinology: significant discoveries in the last 10years and where the field is heading in the next decade.Hormones (Athens). 2018 Dec;17(4):479-490. doi: 10.1007/s42000-018-0072-y. Epub 2018 Nov 19.
• [68] Is there a role for epithelial-mesenchymal transition in adrenocortical tumors?.Endocrine. 2017 Nov;58(2):276-288. doi: 10.1007/s12020-017-1409-z. Epub 2017 Sep 8.
• [69] Inhibin alpha-subunit (INHA) expression in adrenocortical cancer is linked to genetic and epigenetic INHA promoter variation.PLoS One. 2014 Aug 11;9(8):e104944. doi: 10.1371/journal.pone.0104944. eCollection 2014.
• [70] MYB-activated models for testing therapeutic agents in adenoid cystic carcinoma.Oral Oncol. 2019 Nov;98:147-155. doi: 10.1016/j.oraloncology.2019.09.005. Epub 2019 Oct 10.
• [71] Steroid Receptor Coactivator-1 Expression in Pheochromocytoma: Clinicopathologic Correlation and Potential Diagnostic Pitfall.Appl Immunohistochem Mol Morphol. 2020 Nov/Dec;28(10):761-766. doi: 10.1097/PAI.0000000000000815.
• [72] MiR-483-5p and miR-139-5p promote aggressiveness by targeting N-myc downstream-regulated gene family members in adrenocortical cancer.Int J Cancer. 2018 Aug 15;143(4):944-957. doi: 10.1002/ijc.31363. Epub 2018 Mar 30.
• [73] Prevention of pancreatic acinar cell carcinoma by Roux-en-Y Gastric Bypass Surgery.Nat Commun. 2018 Oct 10;9(1):4183. doi: 10.1038/s41467-018-06571-w.
• [74] Role of Scaffold Protein Proline-, Glutamic Acid-, and Leucine-Rich Protein 1 (PELP1) in the Modulation of Adrenocortical Cancer Cell Growth.Cells. 2017 Nov 7;6(4):42. doi: 10.3390/cells6040042.
• [75] High diagnostic and prognostic value of steroidogenic factor-1 expression in adrenal tumors.J Clin Endocrinol Metab. 2010 Oct;95(10):E161-71. doi: 10.1210/jc.2010-0653. Epub 2010 Jul 21.
• [76] Clinical, pathological and treatment factors associated with the survival of patients with primary pulmonary salivary gland-type tumors.Lung Cancer. 2018 Dec;126:174-181. doi: 10.1016/j.lungcan.2018.11.010. Epub 2018 Nov 10.
• [77] Expression Profiling of Clinical Specimens Supports the Existence of Neural Progenitor-Like Stem Cells in Basal Breast Cancers.Clin Breast Cancer. 2017 Jul;17(4):298-306.e7. doi: 10.1016/j.clbc.2017.01.007. Epub 2017 Jan 27.
• [78] Large scale molecular analysis identifies genes with altered expression in salivary adenoid cystic carcinoma.Am J Pathol. 2002 Oct;161(4):1315-23. doi: 10.1016/S0002-9440(10)64408-2.