General Information of Disease (ID: DISO9P40)

Disease Name Corpus callosum, agenesis of
Synonyms ACC; agenesis of the corpus callosum; isolated corpus callosum agenesis; agenesis of corpus callosum; corpus callosum agenesis; corpus callosum, agenesis of
Definition
A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISD715V: Hereditary neurological disease
DISO9P40: Corpus callosum, agenesis of
Disease Identifiers
MONDO ID
MONDO_0009022
MESH ID
D061085
UMLS CUI
C0175754
OMIM ID
217990
MedGen ID
104498
HPO ID
HP:0001274
Orphanet ID
200
SNOMED CT ID
5102002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 49 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACTG1 TTGAZF9 Limited Biomarker [1]
BBC3 TT7JUKC Limited Altered Expression [2]
CREBBP TTFRCTK Limited Posttranslational Modification [3]
CYP11A1 TTSYVO6 Limited Genetic Variation [4]
CYP11B1 TTIQUX7 Limited Biomarker [5]
DGKZ TTSBBXL Limited Biomarker [6]
DHCR24 TTTK0NH Limited Posttranslational Modification [7]
DKK3 TTY2ZV6 Limited Biomarker [8]
EHMT1 TTOFXD7 Limited Altered Expression [9]
FCGR1A TTZK4I3 Limited Biomarker [10]
FSCN1 TTTRS9B Limited Biomarker [11]
HCN2 TT9EUT4 Limited Biomarker [12]
HSD17B4 TTL1WGS Limited Altered Expression [13]
LHCGR TT2O4W9 Limited Biomarker [14]
LONP1 TTM1VPZ Limited Altered Expression [15]
LY96 TT8S9AV Limited Altered Expression [16]
NNT TTKIH76 Limited Biomarker [17]
PCYT1B TTUAIKM Limited Genetic Variation [18]
PRKACA TT5U49F Limited Genetic Variation [19]
RAB7A TTF6WAQ Limited Genetic Variation [20]
SLC25A1 TTTD730 Limited Genetic Variation [21]
SLC40A1 TT6Y1PG Limited Altered Expression [22]
SOX2 TTCNOT6 Limited Biomarker [23]
SPOCK1 TTF23RE Limited Genetic Variation [24]
UBC TTBP3XA Limited Biomarker [25]
ASIC2 TTVMWLP moderate Altered Expression [26]
GAA TTLPC70 moderate Genetic Variation [27]
HDC TTV9GOF moderate Altered Expression [28]
HRH3 TT9JNIC moderate Altered Expression [28]
ZEB2 TTT2WK4 moderate Biomarker [29]
ACACB TTY84UG Strong Biomarker [30]
ADK TTL732K Strong Genetic Variation [31]
BCL2A1 TTGT9C7 Strong Biomarker [30]
BIRC7 TTHZ8TA Strong Altered Expression [32]
CDA TTQ12RK Strong Biomarker [33]
CDH2 TT1WS0T Strong Genetic Variation [34]
ESRRA TTPNQAC Strong Altered Expression [35]
GLI2 TT045OH Strong Biomarker [36]
IGF2 TTE8WGO Strong Biomarker [37]
KAT6B TTH4VJL Strong CausalMutation [38]
L1CAM TTC9D3K Strong Genetic Variation [39]
NAGLU TTDM6HZ Strong Biomarker [32]
PDE11A TTTWC79 Strong Genetic Variation [40]
RTN4R TTVRZUO Strong Biomarker [41]
RUNX3 TTKCVO7 Strong Altered Expression [42]
SLC12A6 TT8DFHE Strong Genetic Variation [43]
TOP2A TTCGY2K Strong Altered Expression [44]
AKT3 TTO6SGY Definitive Biomarker [45]
MC2R TTPWFDX Definitive Biomarker [46]
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⏷ Show the Full List of 49 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCD1 DTKM9DZ Strong Genetic Variation [47]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
SULT2A1 DE0P6LK Limited Biomarker [48]
HINT1 DEWJATF Definitive Biomarker [49]
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This Disease Is Related to 99 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACACA OT5CQPZY Limited Posttranslational Modification [50]
ACADVL OT50L4XB Limited Altered Expression [51]
ACOT7 OT7C68YV Limited Biomarker [1]
ACTBL2 OTD6B81U Limited Biomarker [1]
ACTG2 OTRDWUO0 Limited Biomarker [1]
ALOX15B OTWQQ08W Limited Altered Expression [51]
ARID1B OTILK3Q7 Limited Genetic Variation [52]
BARD1 OTTC0Z9Y Limited Altered Expression [53]
BCL9 OTRBIPR4 Limited Altered Expression [54]
BMS1 OTEGQ8ZO Limited Posttranslational Modification [50]
BUB1B OT8KME51 Limited Biomarker [55]
CDK5RAP2 OTRKEVTY Limited Autosomal recessive [56]
CORO7 OTG7MEAJ Limited Biomarker [57]
CTBS OT135K92 Limited Genetic Variation [18]
DCUN1D1 OT8UJLZU Limited Altered Expression [58]
DDT OTF5HTYL Limited Biomarker [59]
DDX23 OTBJHS8C Limited Genetic Variation [60]
DISC1 OT43AW4H Limited Genetic Variation [61]
DNAH8 OTGES2OU Limited Biomarker [62]
EN1 OT2DKIDK Limited Biomarker [63]
EPG5 OT3P5HQD Limited Biomarker [64]
FABP7 OTRE2H4G Limited Altered Expression [65]
FATE1 OTPYXV64 Limited Altered Expression [66]
FHL5 OT6C00Z1 Limited Biomarker [1]
FOXG1 OTAW57J4 Limited Genetic Variation [67]
GARS1 OT5B6R9Y Limited Genetic Variation [20]
GPX4 OTRAFFX2 Limited Altered Expression [59]
HMSD OTGR7BCP Limited Biomarker [68]
KIF1B OTI1XQTO Limited Genetic Variation [20]
KREMEN1 OTGJFSAC Limited Genetic Variation [69]
KRT15 OTS6WLF7 Limited Biomarker [70]
MAD2L1BP OT2O2IUJ Limited Genetic Variation [20]
MAML2 OT1TSVAR Limited Biomarker [71]
MED27 OT40PZ9R Limited Altered Expression [72]
MKS1 OT83W5PB Limited Genetic Variation [73]
MRAP2 OTCQS7DB Limited Altered Expression [74]
NECTIN1 OTTE5ZR6 Limited Biomarker [75]
NR5A1 OTOULYR4 Limited Biomarker [11]
NUMA1 OTTKAVG4 Limited Biomarker [75]
OBP2A OTBIJ5TI Limited Biomarker [76]
PA2G4 OT7IG7HT Limited Biomarker [77]
POTEM OT7L2HGH Limited Biomarker [1]
RARRES2 OT1BJE8K Limited Biomarker [78]
RFX3 OTE0EI8Z Limited Biomarker [79]
SBSN OT89RKJH Limited Biomarker [80]
SDHB OTRE1M1T Limited Altered Expression [81]
SERPINA3 OT9BP2S0 Limited Biomarker [1]
SFPQ OTLCIAPJ Limited Biomarker [82]
SKA1 OTDYJ12A Limited Biomarker [83]
SMARCA1 OT0Y6PTU Limited Altered Expression [62]
SMARCA2 OTSGJ8SV Limited Biomarker [62]
SPEN OT37A2MD Limited Genetic Variation [84]
DAB1 OTPL9MA3 Disputed Biomarker [85]
ARX OTBGYH25 moderate Genetic Variation [86]
DCC OT2C1SHW moderate Genetic Variation [87]
GLYAT OT3WWYXD moderate Genetic Variation [27]
NAGA OTNUEUZY moderate Biomarker [88]
NFIA OTDHQ9CG moderate Biomarker [89]
PRKAB1 OT1OG4QZ moderate Biomarker [90]
PYCR1 OTQHB52T moderate Genetic Variation [91]
SFN OTLJCZ1U moderate Posttranslational Modification [92]
ALDH18A1 OT6W40XU Strong Genetic Variation [91]
AMPD2 OTBS30JU Strong Genetic Variation [93]
ARHGAP31 OTUYTF4I Strong Genetic Variation [94]
ARMC5 OTO7IV74 Strong Biomarker [95]
BCL11B OT8KKCVJ Strong CausalMutation [96]
CDK10 OTKP7TTR Strong Genetic Variation [97]
DOCK6 OTPNUVLT Strong Genetic Variation [94]
EARS2 OTNCJKY7 Strong Genetic Variation [98]
ELAVL2 OT6EJ8MQ Strong Altered Expression [25]
ENOPH1 OTKXMWNN Strong Biomarker [99]
EOGT OT4A2A8P Strong Genetic Variation [94]
GEMIN2 OT4L6TLL Strong Altered Expression [100]
GLI3 OTKDOE94 Strong Biomarker [79]
HOXA6 OTHJP8M2 Strong Genetic Variation [101]
INHA OT7HWCO3 Strong Genetic Variation [102]
MEF2C OTZGF1Y5 Strong Genetic Variation [103]
MYBL1 OTBJMC2P Strong Altered Expression [104]
NBAS OTW9IBRI Strong Biomarker [32]
NCOA1 OTLIUJQD Strong Biomarker [105]
NDRG4 OTJBOTD8 Strong Altered Expression [106]
NEFL OTQESJV4 Strong Biomarker [49]
NEUROG3 OT6DIPWC Strong Genetic Variation [107]
PAK3 OT80M3BV Strong Genetic Variation [108]
PELP1 OTVXQNOT Strong Biomarker [109]
PRICKLE1 OT9HHEM9 Strong Genetic Variation [110]
PRKAA1 OT7TNF0L Strong Biomarker [90]
PRKAA2 OTU1KZPV Strong Biomarker [90]
RPGRIP1L OT6Z069I Strong Biomarker [79]
SCAF11 OTX59D0X Strong Altered Expression [100]
SCN7A OTK05PXY Strong Biomarker [32]
SF1 OTLEDM2S Strong Biomarker [111]
SGTA OTKOJ3JB Strong Genetic Variation [112]
SIN3A OTM8OZWV Strong Biomarker [113]
SOX10 OTF25ULQ Strong Altered Expression [114]
TFAP2C OTUDIW05 Strong Altered Expression [115]
TMEM67 OTME92T5 Strong Genetic Variation [116]
CYP2U1 OT6RXLXS Definitive Biomarker [49]
MED25 OTDBY87B Definitive Biomarker [49]
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⏷ Show the Full List of 99 DOT(s)

References

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3 The mutational landscape of adenoid cystic carcinoma.Nat Genet. 2013 Jul;45(7):791-8. doi: 10.1038/ng.2643. Epub 2013 May 19.
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13 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.
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15 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.
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17 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.
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21 Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7.
22 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.
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24 Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.Eur J Med Genet. 2014 Mar;57(4):181-4. doi: 10.1016/j.ejmg.2014.02.009. Epub 2014 Feb 27.
25 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.
26 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.
27 Expression and mutational analysis of the DCC, DPC4, and MADR2/JV18-1 genes in neuroblastoma.Cancer Res. 1997 Sep 1;57(17):3772-8.
28 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.
29 A Novel TP53 Mutation Associated with TWIST1 and SIP1 Expression in an Aggressive Adrenocortical Carcinoma.Endocr Pathol. 2017 Dec;28(4):326-331. doi: 10.1007/s12022-017-9482-7.
30 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.
31 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.
32 Livin/BIRC7 expression as malignancy marker in adrenocortical tumors.Oncotarget. 2017 Feb 7;8(6):9323-9338. doi: 10.18632/oncotarget.14067.
33 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.
34 Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.Clin Genet. 2020 Mar;97(3):502-508. doi: 10.1111/cge.13660. Epub 2019 Nov 10.
35 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.
36 A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):793-7. doi: 10.1002/bdra.23535. Epub 2016 Jun 27.
37 IGF2 role in adrenocortical carcinoma biology.Endocrine. 2019 Nov;66(2):326-337. doi: 10.1007/s12020-019-02033-5. Epub 2019 Aug 4.
38 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3.
39 Three cases with L1 syndrome and two novel mutations in the L1CAM gene.Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2. Epub 2015 May 7.
40 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.
41 Agenesis of the corpus callosum in Nogo receptor deficient mice.J Comp Neurol. 2017 Feb 1;525(2):291-301. doi: 10.1002/cne.24064. Epub 2016 Jul 8.
42 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.
43 Mutations affecting GABAergic signaling in seizures and epilepsy. Pflugers Arch. 2010 Jul;460(2):505-23.
44 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.
45 AKT3 drives adenoid cystic carcinoma development in salivary glands.Cancer Med. 2018 Feb;7(2):445-453. doi: 10.1002/cam4.1293. Epub 2017 Dec 28.
46 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.
47 Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.Neurodegener Dis. 2018;18(2-3):156-164. doi: 10.1159/000490248. Epub 2018 Jul 2.
48 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.
49 ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.
50 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.
51 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.
52 Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.Psychiatr Genet. 2019 Dec;29(6):237-242. doi: 10.1097/YPG.0000000000000225.
53 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.
54 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.
55 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.
56 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
57 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.
58 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.
59 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.
60 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.
61 Human brain imaging studies of DISC1 in schizophrenia, bipolar disorder and depression: a systematic review.Schizophr Res. 2013 Jun;147(1):1-13. doi: 10.1016/j.schres.2013.03.015. Epub 2013 Apr 16.
62 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.
63 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.
64 Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.Am J Med Genet A. 2017 Mar;173(3):706-711. doi: 10.1002/ajmg.a.38061. Epub 2017 Feb 7.
65 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.
66 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.
67 FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections.Neuron. 2018 Dec 5;100(5):1083-1096.e5. doi: 10.1016/j.neuron.2018.10.016. Epub 2018 Nov 1.
68 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.
69 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.
70 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.
71 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.
72 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.
73 MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1.
74 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.
75 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.
76 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.
77 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.
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