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

DOT Name Adhesion G-protein coupled receptor V1 (ADGRV1)
Synonyms ADGRV1; EC 3.4.-.-; G-protein coupled receptor 98; Monogenic audiogenic seizure susceptibility protein 1 homolog; Usher syndrome type-2C protein; Very large G-protein coupled receptor 1
Gene Name ADGRV1
Related Disease
Usher syndrome type 2 ( )
Autosomal dominant epilepsy with auditory features ( )
Cervical carcinoma ( )
Deafness ( )
Epilepsy ( )
Epilepsy, familial temporal lobe, 1 ( )
Esophageal candidiasis ( )
Esophagitis ( )
Hyperinsulinemia ( )
Leiomyoma ( )
Obesity ( )
Opioid dependence ( )
Polyp ( )
Retinitis pigmentosa ( )
Retinopathy ( )
Schizophrenia ( )
Tuberculosis ( )
Usher syndrome type 1 ( )
Usher syndrome type 2A ( )
Usher syndrome type 2C ( )
Usher syndrome type 2D ( )
Uterine fibroids ( )
Waardenburg syndrome type 4A ( )
Usher syndrome ( )
Nonsyndromic genetic hearing loss ( )
Chronic obstructive pulmonary disease ( )
Febrile seizures, familial, 4 ( )
Generalized epilepsy with febrile seizures plus ( )
Small-cell lung cancer ( )
UniProt ID
AGRV1_HUMAN
EC Number
3.4.-.-
Pfam ID
PF00002 ; PF03160 ; PF03736 ; PF13385
Sequence
MSVFLGPGMPSASLLVNLLSALLILFVFGETEIRFTGQTEFVVNETSTTVIRLIIERIGE
PANVTAIVSLYGEDAGDFFDTYAAAFIPAGETNRTVYIAVCDDDLPEPDETFIFHLTLQK
PSANVKLGWPRTVTVTILSNDNAFGIISFNMLPSIAVSEPKGRNESMPLTLIREKGTYGM
VMVTFEVEGGPNPPDEDLSPVKGNITFPPGRATVIYNLTVLDDEVPENDEIFLIQLKSVE
GGAEINTSRNSIEIIIKKNDSPVRFLQSIYLVPEEDHILIIPVVRGKDNNGNLIGSDEYE
VSISYAVTTGNSTAHAQQNLDFIDLQPNTTVVFPPFIHESHLKFQIVDDTIPEIAESFHI
MLLKDTLQGDAVLISPSVVQVTIKPNDKPYGVLSFNSVLFERTVIIDEDRISRYEEITVV
RNGGTHGNVSANWVLTRNSTDPSPVTADIRPSSGVLHFAQGQMLATIPLTVVDDDLPEEA
EAYLLQILPHTIRGGAEVSEPAELLFYIQDSDDVYGLITFFPMENQKIESSPGERYLSLS
FTRLGGTKGDVRLLYSVLYIPAGAVDPLQAKEGILNISRRNDLIFPEQKTQVTTKLPIRN
DAFLQNGAHFLVQLETVELLNIIPLIPPISPRFGEICNISLLVTPAIANGEIGFLSNLPI
ILHEPEDFAAEVVYIPLHRDGTDGQATVYWSLKPSGFNSKAVTPDDIGPFNGSVLFLSGQ
SDTTINITIKGDDIPEMNETVTLSLDRVNVENQVLKSGYTSRDLIILENDDPGGVFEFSP
ASRGPYVIKEGESVELHIIRSRGSLVKQFLHYRVEPRDSNEFYGNTGVLEFKPGEREIVI
TLLARLDGIPELDEHYWVVLSSHGERESKLGSATIVNITILKNDDPHGIIEFVSDGLIVM
INESKGDAIYSAVYDVVRNRGNFGDVSVSWVVSPDFTQDVFPVQGTVVFGDQEFSKNITI
YSLPDEIPEEMEEFTVILLNGTGGAKVGNRTTATLRIRRNDDPIYFAEPRVVRVQEGETA
NFTVLRNGSVDVTCMVQYATKDGKATARERDFIPVEKGETLIFEVGSRQQSISIFVNEDG
IPETDEPFYIILLNSTGDTVVYQYGVATVIIEANDDPNGIFSLEPIDKAVEEGKTNAFWI
LRHRGYFGSVSVSWQLFQNDSALQPGQEFYETSGTVNFMDGEEAKPIILHAFPDKIPEFN
EFYFLKLVNISGGSPGPGGQLAETNLQVTVMVPFNDDPFGVFILDPECLEREVAEDVLSE
DDMSYITNFTILRQQGVFGDVQLGWEILSSEFPAGLPPMIDFLLVGIFPTTVHLQQHMRR
HHSGTDALYFTGLEGAFGTVNPKYHPSRNNTIANFTFSAWVMPNANTNGFIIAKDDGNGS
IYYGVKIQTNESHVTLSLHYKTLGSNATYIAKTTVMKYLEESVWLHLLIILEDGIIEFYL
DGNAMPRGIKSLKGEAITDGPGILRIGAGINGNDRFTGLMQDVRSYERKLTLEEIYELHA
MPAKSDLHPISGYLEFRQGETNKSFIISARDDNDEEGEELFILKLVSVYGGARISEENTT
ARLTIQKSDNANGLFGFTGACIPEIAEEGSTISCVVERTRGALDYVHVFYTISQIETDGI
NYLVDDFANASGTITFLPWQRSEVLNIYVLDDDIPELNEYFRVTLVSAIPGDGKLGSTPT
SGASIDPEKETTDITIKASDHPYGLLQFSTGLPPQPKDAMTLPASSVPHITVEEEDGEIR
LLVIRAQGLLGRVTAEFRTVSLTAFSPEDYQNVAGTLEFQPGERYKYIFINITDNSIPEL
EKSFKVELLNLEGGVAELFRVDGSGSGDGDMEFFLPTIHKRASLGVASQILVTIAASDHA
HGVFEFSPESLFVSGTEPEDGYSTVTLNVIRHHGTLSPVTLHWNIDSDPDGDLAFTSGNI
TFEIGQTSANITVEILPDEDPELDKAFSVSVLSVSSGSLGAHINATLTVLASDDPYGIFI
FSEKNRPVKVEEATQNITLSIIRLKGLMGKVLVSYATLDDMEKPPYFPPNLARATQGRDY
IPASGFALFGANQSEATIAISILDDDEPERSESVFIELLNSTLVAKVQSRSIPNSPRLGP
KVETIAQLIIIANDDAFGTLQLSAPIVRVAENHVGPIINVTRTGGAFADVSVKFKAVPIT
AIAGEDYSIASSDVVLLEGETSKAVPIYVINDIYPELEESFLVQLMNETTGGARLGALTE
AVIIIEASDDPYGLFGFQITKLIVEEPEFNSVKVNLPIIRNSGTLGNVTVQWVATINGQL
ATGDLRVVSGNVTFAPGETIQTLLLEVLADDVPEIEEVIQVQLTDASGGGTIGLDRIANI
IIPANDDPYGTVAFAQMVYRVQEPLERSSCANITVRRSGGHFGRLLLFYSTSDIDVVALA
MEEGQDLLSYYESPIQGVPDPLWRTWMNVSAVGEPLYTCATLCLKEQACSAFSFFSASEG
PQCFWMTSWISPAVNNSDFWTYRKNMTRVASLFSGQAVAGSDYEPVTRQWAIMQEGDEFA
NLTVSILPDDFPEMDESFLISLLEVHLMNISASLKNQPTIGQPNISTVVIALNGDAFGVF
VIYNISPNTSEDGLFVEVQEQPQTLVELMIHRTGGSLGQVAVEWRVVGGTATEGLDFIGA
GEILTFAEGETKKTVILTILDDSEPEDDESIIVSLVYTEGGSRILPSSDTVRVNILANDN
VAGIVSFQTASRSVIGHEGEILQFHVIRTFPGRGNVTVNWKIIGQNLELNFANFSGQLFF
PEGSLNTTLFVHLLDDNIPEEKEVYQVILYDVRTQGVPPAGIALLDAQGYAAVLTVEASD
EPHGVLNFALSSRFVLLQEANITIQLFINREFGSLGAINVTYTTVPGMLSLKNQTVGNLA
EPEVDFVPIIGFLILEEGETAAAINITILEDDVPELEEYFLVNLTYVGLTMAASTSFPPR
LDSEGLTAQVIIDANDGARGVIEWQQSRFEVNETHGSLTLVAQRSREPLGHVSLFVYAQN
LEAQVGLDYIFTPMILHFADGERYKNVNIMILDDDIPEGDEKFQLILTNPSPGLELGKNT
IALIIVLANDDGPGVLSFNNSEHFFLREPTALYVQESVAVLYIVREPAQGLFGTVTVQFI
VTEVNSSNESKDLTPSKGYIVLEEGVRFKALQISAILDTEPEMDEYFVCTLFNPTGGARL
GVHVQTLITVLQNQAPLGLFSISAVENRATSIDIEEANRTVYLNVSRTNGIDLAVSVQWE
TVSETAFGMRGMDVVFSVFQSFLDESASGWCFFTLENLIYGIMLRKSSVTVYRWQGIFIP
VEDLNIENPKTCEAFNIGFSPYFVITHEERNEEKPSLNSVFTFTSGFKLFLVQTIIILES
SQVRYFTSDSQDYLIIASQRDDSELTQVFRWNGGSFVLHQKLPVRGVLTVALFNKGGSVF
LAISQANARLNSLLFRWSGSGFINFQEVPVSGTTEVEALSSANDIYLIFAENVFLGDQNS
IDIFIWEMGQSSFRYFQSVDFAAVNRIHSFTPASGIAHILLIGQDMSALYCWNSERNQFS
FVLEVPSAYDVASVTVKSLNSSKNLIALVGAHSHIYELAYISSHSDFIPSSGELIFEPGE
REATIAVNILDDTVPEKEESFKVQLKNPKGGAEIGINDSVTITILSNDDAYGIVAFAQNS
LYKQVEEMEQDSLVTLNVERLKGTYGRITIAWEADGSISDIFPTSGVILFTEGQVLSTIT
LTILADNIPELSEVVIVTLTRITTEGVEDSYKGATIDQDRSKSVITTLPNDSPFGLVGWR
AASVFIRVAEPKENTTTLQLQIARDKGLLGDIAIHLRAQPNFLLHVDNQATENEDYVLQE
TIIIMKENIKEAHAEVSILPDDLPELEEGFIVTITEVNLVNSDFSTGQPSVRRPGMEIAE
IMIEENDDPRGIFMFHVTRGAGEVITAYEVPPPLNVLQVPVVRLAGSFGAVNVYWKASPD
SAGLEDFKPSHGILEFADKQVTAMIEITIIDDAEFELTETFNISLISVAGGGRLGDDVVV
TVVIPQNDSPFGVFGFEEKTVMIDESLSSDDPDSYVTLTVVRSPGGKGTVRLEWTIDEKA
KHNLSPLNGTLHFDETESQKTIVLHTLQDTVLEEDRRFTIQLISIDEVEISPVKGSASII
IRGDKRASGEVGIAPSSRHILIGEPSAKYNGTAIISLVRGPGILGEVTVFWRIFPPSVGE
FAETSGKLTMRDEQSAVIVVIQALNDDIPEEKSFYEFQLTAVSEGGVLSESSSTANITVV
ASDSPYGRFAFSHEQLRVSEAQRVNITIIRSSGDFGHVRLWYKTMSGTAEAGLDFVPAAG
ELLFEAGEMRKSLHVEILDDDYPEGPEEFSLTITKVELQGRGYDFTIQENGLQIDQPPEI
GNISIVRIIIMKNDNAEGIIEFDPKYTAFEVEEDVGLIMIPVVRLHGTYGYVTADFISQS
SSASPGGVDYILHGSTVTFQHGQNLSFINISIIDDNESEFEEPIEILLTGATGGAVLGRH
LVSRIIIAKSDSPFGVIRFLNQSKISIANPNSTMILSLVLERTGGLLGEIQVNWETVGPN
SQEALLPQNRDIADPVSGLFYFGEGEGGVRTIILTIYPHEEIEVEETFIIKLHLVKGEAK
LDSRAKDVTLTIQEFGDPNGVVQFAPETLSKKTYSEPLALEGPLLITFFVRRVKGTFGEI
MVYWELSSEFDITEDFLSTSGFFTIADGESEASFDVHLLPDEVPEIEEDYVIQLVSVEGG
AELDLEKSITWFSVYANDDPHGVFALYSDRQSILIGQNLIRSIQINITRLAGTFGDVAVG
LRISSDHKEQPIVTENAERQLVVKDGATYKVDVVPIKNQVFLSLGSNFTLQLVTVMLVGG
RFYGMPTILQEAKSAVLPVSEKAANSQVGFESTAFQLMNITAGTSHVMISRRGTYGALSV
AWTTGYAPGLEIPEFIVVGNMTPTLGSLSFSHGEQRKGVFLWTFPSPGWPEAFVLHLSGV
QSSAPGGAQLRSGFIVAEIEPMGVFQFSTSSRNIIVSEDTQMIRLHVQRLFGFHSDLIKV
SYQTTAGSAKPLEDFEPVQNGELFFQKFQTEVDFEITIINDQLSEIEEFFYINLTSVEIR
GLQKFDVNWSPRLNLDFSVAVITILDNDDLAGMDISFPETTVAVAVDTTLIPVETESTTY
LSTSKTTTILQPTNVVAIVTEATGVSAIPEKLVTLHGTPAVSEKPDVATVTANVSIHGTF
SLGPSIVYIEEEMKNGTFNTAEVLIRRTGGFTGNVSITVKTFGERCAQMEPNALPFRGIY
GISNLTWAVEEEDFEEQTLTLIFLDGERERKVSVQILDDDEPEGQEFFYVFLTNPQGGAQ
IVEEKDDTGFAAFAMVIITGSDLHNGIIGFSEESQSGLELREGAVMRRLHLIVTRQPNRA
FEDVKVFWRVTLNKTVVVLQKDGVNLVEELQSVSGTTTCTMGQTKCFISIELKPEKVPQV
EVYFFVELYEATAGAAINNSARFAQIKILESDESQSLVYFSVGSRLAVAHKKATLISLQV
ARDSGTGLMMSVNFSTQELRSAETIGRTIISPAISGKDFVITEGTLVFEPGQRSTVLDVI
LTPETGSLNSFPKRFQIVLFDPKGGARIDKVYGTANITLVSDADSQAIWGLADQLHQPVN
DDILNRVLHTISMKVATENTDEQLSAMMHLIEKITTEGKIQAFSVASRTLFYEILCSLIN
PKRKDTRGFSHFAEVTENFAFSLLTNVTCGSPGEKSKTILDSCPYLSILALHWYPQQING
HKFEGKEGDYIRIPERLLDVQDAEIMAGKSTCKLVQFTEYSSQQWFISGNNLPTLKNKVL
SLSVKGQSSQLLTNDNEVLYRIYAAEPRIIPQTSLCLLWNQAAASWLSDSQFCKVVEETA
DYVECACSHMSVYAVYARTDNLSSYNEAFFTSGFICISGLCLAVLSHIFCARYSMFAAKL
LTHMMAASLGTQILFLASAYASPQLAEESCSAMAAVTHYLYLCQFSWMLIQSVNFWYVLV
MNDEHTERRYLLFFLLSWGLPAFVVILLIVILKGIYHQSMSQIYGLIHGDLCFIPNVYAA
LFTAALVPLTCLVVVFVVFIHAYQVKPQWKAYDDVFRGRTNAAEIPLILYLFALISVTWL
WGGLHMAYRHFWMLVLFVIFNSLQGLYVFMVYFILHNQMCCPMKASYTVEMNGHPGPSTA
FFTPGSGMPPAGGEISKSTQNLIGAMEEVPPDWERASFQQGSQASPDLKPSPQNGATFPS
SGGYGQGSLIADEESQEFDDLIFALKTGAGLSVSDNESGQGSQEGGTLTDSQIVELRRIP
IADTHL
Function
G-protein coupled receptor which has an essential role in the development of hearing and vision. Couples to G-alpha(i)-proteins, GNAI1/2/3, G-alpha(q)-proteins, GNAQ, as well as G-alpha(s)-proteins, GNAS, inhibiting adenylate cyclase (AC) activity and cAMP production. Required for the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells of the inner ear. In response to extracellular calcium, activates kinases PKA and PKC to regulate myelination by inhibiting the ubiquitination of MAG, thus enhancing the stability of this protein in myelin-forming cells of the auditory pathway. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. Involved in the regulation of bone metabolism; [ADGRV1 subunit beta]: Cleaved ADGRV1 beta-subunit couples with G-alpha(i)-proteins, GNAI1/2/3, and constitutively inhibits adenylate cyclase (AC) activity with a stronger effect than full ADGRV1.
Tissue Specificity Expressed at low levels in adult tissues.
Reactome Pathway
EGR2 and SOX10-mediated initiation of Schwann cell myelination (R-HSA-9619665 )

Molecular Interaction Atlas (MIA) of This DOT

29 Disease(s) Related to This DOT
Disease Name Disease ID Evidence Level Mode of Inheritance REF
Usher syndrome type 2 DIS3LO3C Definitive Autosomal recessive [1]
Autosomal dominant epilepsy with auditory features DISFZN2O Strong Genetic Variation [2]
Cervical carcinoma DIST4S00 Strong Genetic Variation [3]
Deafness DISKCLH4 Strong Genetic Variation [4]
Epilepsy DISBB28L Strong Genetic Variation [5]
Epilepsy, familial temporal lobe, 1 DISTRYUX Strong Genetic Variation [2]
Esophageal candidiasis DISV4PM2 Strong Genetic Variation [6]
Esophagitis DISHVC9B Strong Genetic Variation [6]
Hyperinsulinemia DISIDWT6 Strong Biomarker [7]
Leiomyoma DISLDDFN Strong Biomarker [8]
Obesity DIS47Y1K Strong Genetic Variation [9]
Opioid dependence DIS6WEHK Strong Biomarker [10]
Polyp DISRSLYF Strong Biomarker [11]
Retinitis pigmentosa DISCGPY8 Strong Biomarker [12]
Retinopathy DISB4B0F Strong Biomarker [13]
Schizophrenia DISSRV2N Strong Genetic Variation [14]
Tuberculosis DIS2YIMD Strong Genetic Variation [15]
Usher syndrome type 1 DISR29E4 Strong Genetic Variation [16]
Usher syndrome type 2A DIS7OJKJ Strong Genetic Variation [17]
Usher syndrome type 2C DISX2RCU Strong Autosomal recessive [18]
Usher syndrome type 2D DISHEVUD Strong Genetic Variation [19]
Uterine fibroids DISBZRMJ Strong Biomarker [8]
Waardenburg syndrome type 4A DISSMGSQ Strong Genetic Variation [19]
Usher syndrome DIS9YIS7 moderate Genetic Variation [20]
Nonsyndromic genetic hearing loss DISZX61P Disputed Autosomal recessive [1]
Chronic obstructive pulmonary disease DISQCIRF Limited Genetic Variation [21]
Febrile seizures, familial, 4 DISSFQFF Limited Autosomal dominant [22]
Generalized epilepsy with febrile seizures plus DISJE0UU Limited Genetic Variation [23]
Small-cell lung cancer DISK3LZD Limited Genetic Variation [24]
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⏷ Show the Full List of 29 Disease(s)
Molecular Interaction Atlas (MIA) Jump to Detail Molecular Interaction Atlas of This DOT
3 Drug(s) Affected the Post-Translational Modifications of This DOT
Drug Name Drug ID Highest Status Interaction REF
Valproate DMCFE9I Approved Valproate decreases the methylation of Adhesion G-protein coupled receptor V1 (ADGRV1). [25]
Arsenic DMTL2Y1 Approved Arsenic affects the methylation of Adhesion G-protein coupled receptor V1 (ADGRV1). [27]
Bisphenol A DM2ZLD7 Investigative Bisphenol A decreases the methylation of Adhesion G-protein coupled receptor V1 (ADGRV1). [38]
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12 Drug(s) Affected the Gene/Protein Processing of This DOT
Drug Name Drug ID Highest Status Interaction REF
Doxorubicin DMVP5YE Approved Doxorubicin increases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [26]
Temozolomide DMKECZD Approved Temozolomide increases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [28]
Calcitriol DM8ZVJ7 Approved Calcitriol increases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [29]
Vorinostat DMWMPD4 Approved Vorinostat increases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [30]
Carbamazepine DMZOLBI Approved Carbamazepine affects the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [31]
Zoledronate DMIXC7G Approved Zoledronate increases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [32]
Menadione DMSJDTY Approved Menadione affects the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [33]
Panobinostat DM58WKG Approved Panobinostat decreases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [34]
Folic acid DMEMBJC Approved Folic acid increases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [35]
Urethane DM7NSI0 Phase 4 Urethane decreases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [36]
Benzo(a)pyrene DMN7J43 Phase 1 Benzo(a)pyrene increases the mutagenesis of Adhesion G-protein coupled receptor V1 (ADGRV1). [37]
QUERCITRIN DM1DH96 Investigative QUERCITRIN increases the expression of Adhesion G-protein coupled receptor V1 (ADGRV1). [39]
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⏷ Show the Full List of 12 Drug(s)

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 Molecular basis of Mendelian idiopathic epilepsies.Ann Med. 2004;36(2):89-97. doi: 10.1080/07853890310019952.
3 Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection.Hum Mol Genet. 2019 Jan 15;28(2):341-348. doi: 10.1093/hmg/ddy390.
4 Genetics of Usher Syndrome: New Insights From a Meta-analysis.Otol Neurotol. 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054.
5 ADGRV1 is implicated in myoclonic epilepsy.Epilepsia. 2018 Feb;59(2):381-388. doi: 10.1111/epi.13980. Epub 2017 Dec 20.
6 What is the clinical significance of esophagogastric junction outflow obstruction? evaluation of 60 patients at a tertiary referral center.Neurogastroenterol Motil. 2017 Jun;29(6). doi: 10.1111/nmo.13061. Epub 2017 Apr 9.
7 Long-term effects of a high-carbohydrate diet and exercise on insulin action in older subjects with impaired glucose tolerance.Am J Clin Nutr. 1995 Aug;62(2):426-33. doi: 10.1093/ajcn/62.2.426.
8 Uterine tumors with neuroectodermal differentiation: a series of 17 cases and review of the literature.Am J Surg Pathol. 2008 Feb;32(2):219-28. doi: 10.1097/PAS.0b013e318093e421.
9 Associations between genetic obesity susceptibility and early postnatal fat and lean mass: an individual participant meta-analysis.JAMA Pediatr. 2014 Dec;168(12):1122-30. doi: 10.1001/jamapediatrics.2014.1619.
10 Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans.Sci Rep. 2019 Dec 2;9(1):18070. doi: 10.1038/s41598-019-53560-0.
11 Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes.Pediatr Dermatol. 2020 Jan;37(1):78-85. doi: 10.1111/pde.14006. Epub 2019 Oct 20.
12 Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004 Feb;74(2):357-66. doi: 10.1086/381685. Epub 2004 Jan 20.
13 PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010 Jun;120(6):1812-23. doi: 10.1172/JCI39715. Epub 2010 May 3.
14 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.Schizophr Bull. 2019 Jun 18;45(4):824-834. doi: 10.1093/schbul/sby140.
15 Pituitary tuberculoma: a rare cause of sellar mass.Ir J Med Sci. 2018 May;187(2):461-464. doi: 10.1007/s11845-017-1654-4. Epub 2017 Jul 21.
16 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.
17 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43. doi: 10.1167/iovs.04-1136.
18 Non-USH2A mutations in USH2 patients. Hum Mutat. 2012 Mar;33(3):504-10. doi: 10.1002/humu.22004. Epub 2012 Jan 6.
19 Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.Int J Pediatr Otorhinolaryngol. 2017 Nov;102:114-118. doi: 10.1016/j.ijporl.2017.08.012. Epub 2017 Sep 4.
20 Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.BMC Med Genet. 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z.
21 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.Respir Res. 2019 Apr 2;20(1):64. doi: 10.1186/s12931-019-1036-8.
22 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.
23 A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.Ann Neurol. 2002 Nov;52(5):654-7. doi: 10.1002/ana.10347.
24 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.Nat Genet. 2017 Jul;49(7):1126-1132. doi: 10.1038/ng.3892. Epub 2017 Jun 12.
25 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.
26 RNA sequence analysis of inducible pluripotent stem cell-derived cardiomyocytes reveals altered expression of DNA damage and cell cycle genes in response to doxorubicin. Toxicol Appl Pharmacol. 2018 Oct 1;356:44-53.
27 Prenatal arsenic exposure and the epigenome: identifying sites of 5-methylcytosine alterations that predict functional changes in gene expression in newborn cord blood and subsequent birth outcomes. Toxicol Sci. 2015 Jan;143(1):97-106. doi: 10.1093/toxsci/kfu210. Epub 2014 Oct 10.
28 Temozolomide induces activation of Wnt/-catenin signaling in glioma cells via PI3K/Akt pathway: implications in glioma therapy. Cell Biol Toxicol. 2020 Jun;36(3):273-278. doi: 10.1007/s10565-019-09502-7. Epub 2019 Nov 22.
29 Large-scale in silico and microarray-based identification of direct 1,25-dihydroxyvitamin D3 target genes. Mol Endocrinol. 2005 Nov;19(11):2685-95.
30 Definition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests. Arch Toxicol. 2017 Feb;91(2):839-864.
31 Gene Expression Regulation and Pathway Analysis After Valproic Acid and Carbamazepine Exposure in a Human Embryonic Stem Cell-Based Neurodevelopmental Toxicity Assay. Toxicol Sci. 2015 Aug;146(2):311-20. doi: 10.1093/toxsci/kfv094. Epub 2015 May 15.
32 Interleukin-19 as a translational indicator of renal injury. Arch Toxicol. 2015 Jan;89(1):101-6.
33 Global gene expression analysis reveals differences in cellular responses to hydroxyl- and superoxide anion radical-induced oxidative stress in caco-2 cells. Toxicol Sci. 2010 Apr;114(2):193-203. doi: 10.1093/toxsci/kfp309. Epub 2009 Dec 31.
34 A transcriptome-based classifier to identify developmental toxicants by stem cell testing: design, validation and optimization for histone deacetylase inhibitors. Arch Toxicol. 2015 Sep;89(9):1599-618.
35 Folic acid supplementation dysregulates gene expression in lymphoblastoid cells--implications in nutrition. Biochem Biophys Res Commun. 2011 Sep 9;412(4):688-92. doi: 10.1016/j.bbrc.2011.08.027. Epub 2011 Aug 16.
36 Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
37 Exome-wide mutation profile in benzo[a]pyrene-derived post-stasis and immortal human mammary epithelial cells. Mutat Res Genet Toxicol Environ Mutagen. 2014 Dec;775-776:48-54. doi: 10.1016/j.mrgentox.2014.10.011. Epub 2014 Nov 4.
38 DNA methylome-wide alterations associated with estrogen receptor-dependent effects of bisphenols in breast cancer. Clin Epigenetics. 2019 Oct 10;11(1):138. doi: 10.1186/s13148-019-0725-y.
39 Molecular mechanisms of quercitrin-induced apoptosis in non-small cell lung cancer. Arch Med Res. 2014 Aug;45(6):445-54.