Details of Drug Off-Target (DOT)

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

• DOT Name: Laminin subunit alpha-2 (LAMA2)
• Synonyms: Laminin M chain; Laminin-12 subunit alpha; Laminin-2 subunit alpha; Laminin-4 subunit alpha; Merosin heavy chain
• Gene Name: LAMA2
• Related Disease:
  Colorectal carcinoma
  Congenital merosin-deficient muscular dystrophy 1A
  LAMA2-related muscular dystrophy
  Lung adenocarcinoma
  Adult glioblastoma
  Advanced cancer
  Amoebiasis
  Autosomal recessive limb-girdle muscular dystrophy type 2C
  Campomelic dysplasia
  Congenital muscular dystrophy
  Craniometaphyseal dysplasia, autosomal dominant
  Distal myopathy
  Duchenne muscular dystrophy
  Ependymoma
  Glioblastoma multiforme
  Hepatocellular carcinoma
  Intestinal amebiasis
  Leigh syndrome
  Medullary sponge kidney
  Muscle-eye-brain disease
  Muscular dystrophy
  Muscular dystrophy, limb-girdle, autosomal recessive 23
  Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  Myopathy
  Myopia
  Myositis disease
  Neuromuscular disease
  Peripheral neuropathy
  Refractive error
  Schizophrenia
  Thyroid tumor
  Urinary bladder cancer
  Urinary bladder neoplasm
  West syndrome
  Limb-girdle muscular dystrophy
  Neoplasm
  Respiratory failure
  Ullrich congenital muscular dystrophy 1A
  Toxic shock syndrome
  Dilated cardiomyopathy
  Intellectual disability
  Muscular dystrophy-dystroglycanopathy, type A
• UniProt ID: LAMA2_HUMAN
• PDB ID: 4YEP; 4YEQ
• Pfam ID: PF00052 ; PF00053 ; PF00054 ; PF02210 ; PF06008 ; PF06009 ; PF00055
• Sequence:
  MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGE
  KGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPITNAIDGKNTWWQSPSIKNGIE
  YHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
  NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGEIHISLINGRPSADDPSPELLEFTSARY
  IRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGGMCICYGHARACPLDP
  ATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKAEECYYDENVA
  RRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRPKGVSPNYPRPCQPCHCDPIG
  SLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNED
  PCFGPCICKENVEGGDCSRCKSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDM
  SGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGG
  QLTFTISYDLEEEEEDTERVLQLMIILEGNDLSISTAQDEVYLHPSEEHTNVLLLKEESF
  TIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRLSSVNLESAVSYPTDGSIAAA
  VEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVTGECLNCKDHT
  GGPYCDKCLPGFYGEPTKGTSEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYT
  GPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCEL
  CADGYFGDAVDAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQS
  ARGCVPCNCNSFGSKSFDCEESGQCWCQPGVTGKKCDRCAHGYFNFQEGGCTACECSHLG
  NNCDPKTGRCICPPNTIGEKCSKCAPNTWGHSITTGCKACNCSTVGSLDFQCNVNTGQCN
  CHPKFSGAKCTECSRGHWNYPRCNLCDCFLPGTDATTCDSETKKCSCSDQTGQCTCKVNV
  EGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDE
  ALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFE
  AREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLTRHEIEMTEKEWKYYGDDPRV
  HRTVTREDFLDILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKC
  DCPLGYSGLSCEACLPGFYRLRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQ
  HHTAGDFCERCALGYYGIVKGLPNDCQQCACPLISSSNNFSPSCVAEGLDDYRCTACPRG
  YEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGC
  KHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTGPLPAPYKMLYGLENMTQELK
  HLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGE
  FIKELARDAEAVNEKAIKLNETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIA
  EDELVAAEALLKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREA
  NRLFAVNQKNMTALEKKKEAVESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQ
  TKLPPMSEELNDKIDDLSQEIKDRKLAEKVSQAESHAAQLNDSSAVLDGILDEAKNISFN
  ATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNE
  AKKLANDVKENEDHLNGLKTRIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDK
  ARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNKIIADADATVK
  NLEQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKP
  EIKKGSYNNIVVNVKTAVADNLLFYLGSAKFIDFLAIEMRKGKVSFLWDVGSGVGRVEYP
  DLTIDDSYWYRIVASRTGRNGTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLF
  VGGLTGKLKKADAVRVITFTGCMGETYFDNKPIGLWNFREKEGDCKGCTVSPQVEDSEGT
  IQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYLATRDLRDFMSVELTDGHIKV
  SYDLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIATSSSGNNFGL
  DLKADDKIYFGGLPTLRNLSMKARPEVNLKKYSGCLKDIEISRTPYNILSSPDYVGVTKG
  CSLENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQ
  TGQAYYAILLNRGRLEVHLSTGARTMRKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVD
  ENRRYMQNLTVEQPIEVKKLFVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMDFARPV
  SFKNADIGRCAHQKLREDEDGAAPAEIVIQPEPVPTPAFPTPTPVLTHGPCAAESEPALL
  IGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESGLLFYMARINHADFATVQLRN
  GLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRTISPKKADILD
  VVGMLYVGGLPINYTTRRIGPVTYSIDGCVRNLHMAEAPADLEQPTSSFHVGTCFANAQR
  GTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDEKLMFH
  VDNGAGRFTAVYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPASTSADT
  NDPVFVGGFPDDLKQFGLTTSIPFRGCIRSLKLTKGTGKPLEVNFAKALELRGVQPVSCP
  AN
• Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
• Tissue Specificity: Placenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung, spleen, kidney, adrenal gland, skin, testis, meninges, choroid plexus, and some other regions of the brain; not in liver, thymus and bone.
• KEGG Pathway:
  PI3K-Akt sig.ling pathway (hsa04151)
  Focal adhesion (hsa04510)
  ECM-receptor interaction (hsa04512)
  Cytoskeleton in muscle cells (hsa04820)
  Toxoplasmosis (hsa05145)
  Amoebiasis (hsa05146)
  Human papillomavirus infection (hsa05165)
  Pathways in cancer (hsa05200)
  Small cell lung cancer (hsa05222)
  Hypertrophic cardiomyopathy (hsa05410)
  Arrhythmogenic right ventricular cardiomyopathy (hsa05412)
  Dilated cardiomyopathy (hsa05414)
  Viral myocarditis (hsa05416)
• Reactome Pathway:
  Non-integrin membrane-ECM interactions (R-HSA-3000171)
  ECM proteoglycans (R-HSA-3000178)
  MET activates PTK2 signaling (R-HSA-8874081)
  EGR2 and SOX10-mediated initiation of Schwann cell myelination (R-HSA-9619665)
  Laminin interactions (R-HSA-3000157)

Molecular Interaction Atlas (MIA) of This DOT

42 Disease(s) Related to This DOT

Disease Name	Disease ID	Evidence Level	Mode of Inheritance	REF
Colorectal carcinoma	DIS5PYL0	Definitive	Posttranslational Modification	[1]
Congenital merosin-deficient muscular dystrophy 1A	DISW3KEU	Definitive	Autosomal recessive	[2]
LAMA2-related muscular dystrophy	DIS99VM0	Definitive	Autosomal recessive	[2]
Lung adenocarcinoma	DISD51WR	Definitive	Altered Expression	[3]
Adult glioblastoma	DISVP4LU	Strong	Biomarker	[4]
Advanced cancer	DISAT1Z9	Strong	Biomarker	[4]
Amoebiasis	DISAJWJL	Strong	Altered Expression	[5]
Autosomal recessive limb-girdle muscular dystrophy type 2C	DISE0ICN	Strong	Genetic Variation	[6]
Campomelic dysplasia	DISVTW53	Strong	Biomarker	[7]
Congenital muscular dystrophy	DISKY7OY	Strong	Genetic Variation	[8]
Craniometaphyseal dysplasia, autosomal dominant	DISU12OO	Strong	Biomarker	[7]
Distal myopathy	DIS7F5R0	Strong	Genetic Variation	[6]
Duchenne muscular dystrophy	DISRQ3NV	Strong	Biomarker	[9]
Ependymoma	DISUMRNZ	Strong	Biomarker	[4]
Glioblastoma multiforme	DISK8246	Strong	Biomarker	[4]
Hepatocellular carcinoma	DIS0J828	Strong	Altered Expression	[10]
Intestinal amebiasis	DIS0IHMD	Strong	Altered Expression	[5]
Leigh syndrome	DISWQU45	Strong	Biomarker	[11]
Medullary sponge kidney	DISA0949	Strong	Biomarker	[12]
Muscle-eye-brain disease	DISJUOQB	Strong	Biomarker	[13]
Muscular dystrophy	DISJD6P7	Strong	Biomarker	[14]
Muscular dystrophy, limb-girdle, autosomal recessive 23	DISBBEUO	Strong	Autosomal recessive	[15]
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	DISGM0K5	Strong	Biomarker	[16]
Myopathy	DISOWG27	Strong	Biomarker	[17]
Myopia	DISK5S60	Strong	Genetic Variation	[18]
Myositis disease	DISCIXF0	Strong	Genetic Variation	[19]
Neuromuscular disease	DISQTIJZ	Strong	Biomarker	[20]
Peripheral neuropathy	DIS7KN5G	Strong	Genetic Variation	[21]
Refractive error	DISWNEQ1	Strong	Genetic Variation	[22]
Schizophrenia	DISSRV2N	Strong	Biomarker	[23]
Thyroid tumor	DISLVKMD	Strong	Biomarker	[24]
Urinary bladder cancer	DISDV4T7	Strong	Biomarker	[25]
Urinary bladder neoplasm	DIS7HACE	Strong	Biomarker	[25]
West syndrome	DISLIAU9	Strong	Genetic Variation	[26]
Limb-girdle muscular dystrophy	DISI9Y1Z	moderate	Genetic Variation	[27]
Neoplasm	DISZKGEW	moderate	Posttranslational Modification	[28]
Respiratory failure	DISVMYJO	moderate	Genetic Variation	[29]
Ullrich congenital muscular dystrophy 1A	DISFHHF0	moderate	Biomarker	[30]
Toxic shock syndrome	DISX5S53	Disputed	Biomarker	[31]
Dilated cardiomyopathy	DISX608J	Limited	Genetic Variation	[32]
Intellectual disability	DISMBNXP	Limited	Genetic Variation	[33]
Muscular dystrophy-dystroglycanopathy, type A	DISZTBC4	Limited	Biomarker	[34]

This DOT Affected the Drug Response of 5 Drug(s)

Drug Name	Drug ID	Highest Status	Interaction	REF
Cisplatin	DMRHGI9	Approved	Laminin subunit alpha-2 (LAMA2) increases the response to substance of Cisplatin.	[47]
Methotrexate	DM2TEOL	Approved	Laminin subunit alpha-2 (LAMA2) increases the response to substance of Methotrexate.	[47]
Paclitaxel	DMLB81S	Approved	Laminin subunit alpha-2 (LAMA2) increases the response to substance of Paclitaxel.	[47]
Topotecan	DMP6G8T	Approved	Laminin subunit alpha-2 (LAMA2) increases the response to substance of Topotecan.	[47]
Mitoxantrone	DMM39BF	Approved	Laminin subunit alpha-2 (LAMA2) affects the response to substance of Mitoxantrone.	[48]

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

Drug Name	Drug ID	Highest Status	Interaction	REF
Valproate	DMCFE9I	Approved	Valproate increases the expression of Laminin subunit alpha-2 (LAMA2).	[35]
Tretinoin	DM49DUI	Approved	Tretinoin decreases the expression of Laminin subunit alpha-2 (LAMA2).	[36]
Doxorubicin	DMVP5YE	Approved	Doxorubicin decreases the expression of Laminin subunit alpha-2 (LAMA2).	[37]
Calcitriol	DM8ZVJ7	Approved	Calcitriol decreases the expression of Laminin subunit alpha-2 (LAMA2).	[39]
Triclosan	DMZUR4N	Approved	Triclosan decreases the expression of Laminin subunit alpha-2 (LAMA2).	[40]
Panobinostat	DM58WKG	Approved	Panobinostat increases the expression of Laminin subunit alpha-2 (LAMA2).	[41]
Isotretinoin	DM4QTBN	Approved	Isotretinoin decreases the expression of Laminin subunit alpha-2 (LAMA2).	[36]
Mifepristone	DMGZQEF	Approved	Mifepristone decreases the expression of Laminin subunit alpha-2 (LAMA2).	[42]
Alitretinoin	DMME8LH	Approved	Alitretinoin decreases the expression of Laminin subunit alpha-2 (LAMA2).	[36]
(+)-JQ1	DM1CZSJ	Phase 1	(+)-JQ1 decreases the expression of Laminin subunit alpha-2 (LAMA2).	[44]
Bisphenol A	DM2ZLD7	Investigative	Bisphenol A increases the expression of Laminin subunit alpha-2 (LAMA2).	[45]
Trichostatin A	DM9C8NX	Investigative	Trichostatin A increases the expression of Laminin subunit alpha-2 (LAMA2).	[46]
all-trans-4-oxo-retinoic acid	DMM2R1N	Investigative	all-trans-4-oxo-retinoic acid decreases the expression of Laminin subunit alpha-2 (LAMA2).	[36]

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

Drug Name	Drug ID	Highest Status	Interaction	REF
Arsenic	DMTL2Y1	Approved	Arsenic increases the methylation of Laminin subunit alpha-2 (LAMA2).	[25]
Benzo(a)pyrene	DMN7J43	Phase 1	Benzo(a)pyrene increases the methylation of Laminin subunit alpha-2 (LAMA2).	[43]

References

• [1] Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer.Int J Oncol. 2012 Mar;40(3):889-98. doi: 10.3892/ijo.2011.1245. Epub 2011 Oct 25.
• [2] 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.
• [3] Selective assembly of laminin variants by human carcinoma cells.Lab Invest. 1994 Nov;71(5):719-30.
• [4] Laminin alpha 2 enables glioblastoma stem cell growth.Ann Neurol. 2012 Nov;72(5):766-78. doi: 10.1002/ana.23674.
• [5] Molecular mechanisms underlying gliomas and glioblastoma pathogenesis revealed by bioinformatics analysis of microarray data.Med Oncol. 2017 Sep 26;34(11):182. doi: 10.1007/s12032-017-1043-x.
• [6] Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.Methods Mol Biol. 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5.
• [7] Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25.
• [8] Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.Clin Neuropathol. 2019 May/Jun;38(3):100-108. doi: 10.5414/NP301137.
• [9] Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD.Hum Mol Genet. 2019 Oct 15;28(20):3369-3390. doi: 10.1093/hmg/ddz180.
• [10] Diverse modes of genomic alteration in hepatocellular carcinoma.Genome Biol. 2014 Aug 26;15(8):436. doi: 10.1186/s13059-014-0436-9.
• [11] Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells.Sci Rep. 2017 Apr 3;7:45272. doi: 10.1038/srep45272.
• [12] Breaking the ice: urine proteomics of medullary sponge kidney disease.Kidney Int. 2017 Feb;91(2):281-283. doi: 10.1016/j.kint.2016.10.032.
• [13] Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings.Neuromuscul Disord. 2001 Sep;11(6-7):570-8. doi: 10.1016/s0960-8966(01)00199-7.
• [14] Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.Front Pharmacol. 2019 Jul 25;10:814. doi: 10.3389/fphar.2019.00814. eCollection 2019.
• [15] LAMA2 Muscular Dystrophy. 2012 Jun 7 [updated 2020 Sep 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [16] Designing Effective Antisense Oligonucleotides for Exon Skipping.Methods Mol Biol. 2018;1687:143-155. doi: 10.1007/978-1-4939-7374-3_10.
• [17] Increased polyamines as protective disease modifiers in congenital muscular dystrophy.Hum Mol Genet. 2018 Jun 1;27(11):1905-1912. doi: 10.1093/hmg/ddy097.
• [18] Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations.J Zhejiang Univ Sci B. 2016 Mar;17(3):225-35. doi: 10.1631/jzus.B1500233.
• [19] Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.Ann Neurol. 2000 Jun;47(6):811-6.
• [20] Muscle-specific BCL2 expression ameliorates muscle disease in laminin {alpha}2-deficient, but not in dystrophin-deficient, mice.Hum Mol Genet. 2005 Apr 15;14(8):1029-40. doi: 10.1093/hmg/ddi095. Epub 2005 Mar 9.
• [21] Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.Neuromuscul Disord. 2014 Aug;24(8):677-83. doi: 10.1016/j.nmd.2014.05.008. Epub 2014 Jun 2.
• [22] Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.
• [23] De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet. 2012 Dec;44(12):1365-9. doi: 10.1038/ng.2446. Epub 2012 Oct 3.
• [24] Expression of laminin-2 by normal and neoplastic rat C cells during the development of medullary thyroid carcinoma.Virchows Arch. 1999 Apr;434(4):325-32. doi: 10.1007/s004280050348.
• [25] Identification of novel gene targets and putative regulators of arsenic-associated DNA methylation in human urothelial cells and bladder cancer. Chem Res Toxicol. 2015 Jun 15;28(6):1144-55. doi: 10.1021/tx500393y. Epub 2015 Jun 3.
• [26] LAMA2-related congenital muscular dystrophy complicated by West syndrome.Eur J Paediatr Neurol. 2015 Mar;19(2):243-7. doi: 10.1016/j.ejpn.2014.11.005. Epub 2014 Dec 2.
• [27] Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.Neuromuscul Disord. 2017 Feb;27(2):170-174. doi: 10.1016/j.nmd.2016.10.009. Epub 2016 Nov 3.
• [28] Expression and methylation status of LAMA2 are associated with the invasiveness of nonfunctioning PitNET.Ther Adv Endocrinol Metab. 2019 Jan 29;10:2042018818821296. doi: 10.1177/2042018818821296. eCollection 2019.
• [29] An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.Eur J Paediatr Neurol. 1998;2(1):19-26. doi: 10.1016/1090-3798(98)01001-9.
• [30] Congenital muscular dystrophies.Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3.
• [31] Staphylococcal Superantigens Use LAMA2 as a Coreceptor To Activate T Cells.J Immunol. 2018 Feb 15;200(4):1471-1479. doi: 10.4049/jimmunol.1701212. Epub 2018 Jan 15.
• [32] Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-2-chain gene: a chance association or a novel phenotype?.Muscle Nerve. 2011 Nov;44(5):826-8. doi: 10.1002/mus.22228.
• [33] Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.Neuromuscul Disord. 2003 Jan;13(1):4-12. doi: 10.1016/s0960-8966(02)00188-8.
• [34] Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.Eur J Paediatr Neurol. 2003;7(3):129-37. doi: 10.1016/s1090-3798(03)00042-4.
• [35] Human embryonic stem cell-derived test systems for developmental neurotoxicity: a transcriptomics approach. Arch Toxicol. 2013 Jan;87(1):123-43.
• [36] Retinoic acid and its 4-oxo metabolites are functionally active in human skin cells in vitro. J Invest Dermatol. 2005 Jul;125(1):143-53.
• [37] 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.
• [38] Identification of novel gene targets and putative regulators of arsenic-associated DNA methylation in human urothelial cells and bladder cancer. Chem Res Toxicol. 2015 Jun 15;28(6):1144-55. doi: 10.1021/tx500393y. Epub 2015 Jun 3.
• [39] Identification of vitamin D3 target genes in human breast cancer tissue. J Steroid Biochem Mol Biol. 2016 Nov;164:90-97.
• [40] Transcriptome and DNA methylome dynamics during triclosan-induced cardiomyocyte differentiation toxicity. Stem Cells Int. 2018 Oct 29;2018:8608327.
• [41] 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.
• [42] Mifepristone induced progesterone withdrawal reveals novel regulatory pathways in human endometrium. Mol Hum Reprod. 2007 Sep;13(9):641-54.
• [43] 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.
• [44] CCAT1 is an enhancer-templated RNA that predicts BET sensitivity in colorectal cancer. J Clin Invest. 2016 Feb;126(2):639-52.
• [45] Bisphenol A induces DSB-ATM-p53 signaling leading to cell cycle arrest, senescence, autophagy, stress response, and estrogen release in human fetal lung fibroblasts. Arch Toxicol. 2018 Apr;92(4):1453-1469.
• [46] 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.
• [47] Microarray-based detection and expression analysis of extracellular matrix proteins in drug?resistant ovarian cancer cell lines. Oncol Rep. 2014 Nov;32(5):1981-90. doi: 10.3892/or.2014.3468. Epub 2014 Sep 9.
• [48] Prediction of doxorubicin sensitivity in breast tumors based on gene expression profiles of drug-resistant cell lines correlates with patient survival. Oncogene. 2005 Nov 17;24(51):7542-51. doi: 10.1038/sj.onc.1208908.