Details of Disease

General Information of Disease (ID: DIS5M7HZ)

Disease Name	Pulmonary emphysema
Synonyms	emphysema, pulmonary; emphysema
Disease Class	CA21: Emphysema
Definition	A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Disease Hierarchy	DISQCIRF: Chronic obstructive pulmonary disease DIS5M7HZ: Pulmonary emphysema
ICD Code	ICD-11 ICD-11: CA21.Z Expand ICD-11 'CA21.Z
Disease Identifiers	MONDO ID MONDO_0004849 MESH ID D011656 UMLS CUI C0034067 MedGen ID 18764 HPO ID HP:0002097 SNOMED CT ID 87433001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 13 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Aminophylline	DML2NIB	Approved	Small molecular drug	[1]
Arformoterol	DMYM974	Approved	Small molecular drug	[2]
Dyphylline	DM8DZC1	Approved	Small molecular drug	[3]
Epinephrine	DM3KJBC	Approved	Small molecular drug	[4]
Fluticasone propionate	DMRWLB2	Approved	NA	[5]
Formoterol	DMSOURV	Approved	Small molecular drug	[6]
Norepinephrine	DMOUC09	Approved	Small molecular drug	[7]
Pirbuterol	DMI5678	Approved	Small molecular drug	[8]
Salmeterol	DMIEU69	Approved	Small molecular drug	[9]
Terbutaline	DMD4381	Approved	Small molecular drug	[10]
Theophylline	DMRJFN9	Approved	Small molecular drug	[11]
Tiotropium	DMFDC0Q	Approved	Small molecular drug	[12]
Vilanterol	DMF5EK1	Approved	Small molecular drug	[13]
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⏷ Show the Full List of 13 Drug(s)

This Disease is Treated as An Indication in 1 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
FK-706	DM524J3	Discontinued in Phase 2	Small molecular drug	[14]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 46 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACVR1B	TTPKHTZ	Limited	Altered Expression	[15]
BLVRA	TTJBPN3	Limited	Biomarker	[16]
CELA1	TT3NKIB	Limited	Altered Expression	[17]
ELANE	TTPLTSQ	Limited	Biomarker	[18]
GPR183	TTME5YJ	Limited	Biomarker	[19]
KIF20B	TTQECT2	Limited	Biomarker	[20]
MMP1	TTMX39J	Limited	Biomarker	[21]
MMP2	TTLM12X	Limited	Biomarker	[22]
NPSR1	TTV1C0Z	Limited	Biomarker	[18]
RHO	TTH0KSX	Limited	Biomarker	[23]
TDP1	TT64IHJ	Limited	Altered Expression	[24]
PGF	TT48I1Y	Disputed	Biomarker	[25]
C3AR1	TTI6B3F	moderate	Biomarker	[26]
CTSE	TTLXC4Q	moderate	Biomarker	[27]
CYP26A1	TTD7Q0R	moderate	Biomarker	[28]
DDIT4	TTVEOY6	moderate	Biomarker	[29]
FDPS	TTIKWV4	moderate	Biomarker	[30]
FES	TTLBY21	moderate	Biomarker	[30]
HDAC10	TTYHPU6	moderate	Altered Expression	[31]
PLTP	TTZF6SN	moderate	Altered Expression	[32]
PRCP	TTTJZ4M	moderate	Biomarker	[33]
SERPIND1	TT8XSKJ	moderate	Biomarker	[34]
SMAD3	TTHQZV7	moderate	Biomarker	[35]
SMPD2	TTE5VI6	moderate	Biomarker	[36]
TPP1	TTOVYPT	moderate	Altered Expression	[37]
AGER	TTMO9HF	Strong	Biomarker	[38]
CTSS	TTUMQVO	Strong	Genetic Variation	[39]
CYP2A6	TTAQ6ZW	Strong	Genetic Variation	[40]
ENTPD1	TTYM8DJ	Strong	Altered Expression	[41]
FOSL1	TTY8LZG	Strong	Genetic Variation	[42]
HDAC2	TTSHTOI	Strong	Biomarker	[43]
HMOX1	TTI6V2A	Strong	Altered Expression	[44]
IL13	TT0GVCH	Strong	Biomarker	[45]
ITGB6	TTKQSXZ	Strong	Biomarker	[46]
LOXL2	TTFSUHX	Strong	Biomarker	[47]
MMP10	TTXLEG7	Strong	Biomarker	[48]
MMP12	TTXZ0KQ	Strong	Altered Expression	[49]
MMP9	TT6X50U	Strong	Biomarker	[50]
PRTN3	TT5MLC4	Strong	Biomarker	[51]
SERPING1	TTVQ6R9	Strong	Biomarker	[52]
SFTPD	TTGLMU7	Strong	Biomarker	[53]
TGFB2	TTI0KH6	Strong	Biomarker	[35]
TGFB3	TTWOMY8	Strong	Biomarker	[54]
TGFBR1	TTP4520	Strong	Biomarker	[55]
TGFBR2	TTZE3P7	Strong	Biomarker	[35]
VCP	TTHNLSB	Strong	Altered Expression	[56]
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⏷ Show the Full List of 46 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A3	DTN1FMD	Limited	Biomarker	[57]
ABCA3	DT2T6VQ	moderate	Genetic Variation	[58]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PGPEP1	DEVDR46	moderate	Biomarker	[33]
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This Disease Is Related to 69 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AIMP1	OTTA5C3U	Limited	Biomarker	[59]
CDT1	OTVY53VG	Limited	Genetic Variation	[60]
CH25H	OT9S2BSW	Limited	Biomarker	[19]
DSP	OTB2MOP8	Limited	Genetic Variation	[61]
FBL	OTRODIE5	Limited	Biomarker	[62]
GABPA	OT9YB2SA	Limited	Genetic Variation	[63]
LCN1	OT8BWXTV	Limited	Biomarker	[64]
MPHOSPH10	OT8DJTO7	Limited	Biomarker	[20]
NFE2	OTLM94BI	Limited	Altered Expression	[65]
ORC4	OT3ACTST	Limited	Biomarker	[60]
PSMC5	OTJOORMR	Limited	Altered Expression	[65]
SGMS2	OT3NHO99	Limited	Altered Expression	[66]
FEV	OTYEC4IR	Disputed	Biomarker	[67]
ABHD2	OTCRUOCS	moderate	Biomarker	[68]
ABI3BP	OTW8DN50	moderate	Biomarker	[69]
AMFR	OTQRX7LC	moderate	Genetic Variation	[70]
AMOTL1	OT40G45S	moderate	Biomarker	[71]
APOM	OTI3FQQC	moderate	Genetic Variation	[72]
ASAP2	OTGEXULW	moderate	Biomarker	[73]
ATP6V0A2	OTJBDX0Y	moderate	Biomarker	[74]
CD207	OTI9RUDN	moderate	Biomarker	[75]
CLEC4D	OTT7X1UC	moderate	Biomarker	[75]
COMMD1	OT7WUD5R	moderate	Biomarker	[47]
DEXI	OT60W9CN	moderate	Altered Expression	[76]
EFEMP2	OT0I2B4J	moderate	Biomarker	[77]
FBLN5	OTLVNZ8U	moderate	Genetic Variation	[78]
GULP1	OT1WMVDH	moderate	Altered Expression	[79]
HPX	OT14T7Q1	moderate	Biomarker	[80]
LMAN2L	OTJ9FAWS	moderate	Biomarker	[31]
LOXL1	OTA0NEJU	moderate	Biomarker	[47]
LTBP2	OTS88GSD	moderate	Biomarker	[81]
MAN1C1	OT44TM7D	moderate	Genetic Variation	[82]
MRPS30	OTDXIAGG	moderate	Biomarker	[73]
MTPAP	OT6HQ02S	moderate	Biomarker	[73]
MYH10	OTXN2WXS	moderate	Biomarker	[83]
NREP	OT2AZPKK	moderate	Altered Expression	[84]
OAZ1	OTPT0PKZ	moderate	Altered Expression	[85]
PALD1	OTLGUM8H	moderate	Biomarker	[86]
PAPOLA	OTPHD65D	moderate	Biomarker	[73]
PDAP1	OTJSWMOD	moderate	Biomarker	[73]
PLAGL2	OT6AP4V2	moderate	Altered Expression	[87]
PRMT6	OT5V3XIN	moderate	Altered Expression	[88]
PTMA	OT2W4T1M	moderate	Biomarker	[89]
PTPRO	OTFLKWOY	moderate	Genetic Variation	[90]
RGN	OTD04KB1	moderate	Biomarker	[91]
RNF5	OTDQGI37	moderate	Biomarker	[70]
SERPINI1	OTUJHIJW	moderate	Genetic Variation	[92]
SFTPB	OTOHS07E	moderate	Altered Expression	[93]
SFXN1	OTL66767	moderate	Genetic Variation	[94]
SIGLEC9	OTZC7SIM	moderate	Genetic Variation	[95]
SMARCAL1	OTTKXLUZ	moderate	Genetic Variation	[96]
A2M	OTFTX90K	Strong	Biomarker	[51]
BICD1	OT78IYPF	Strong	Genetic Variation	[97]
CADM1	OTRWG9QS	Strong	Biomarker	[98]
CHRNA3	OTCZQY1U	Strong	Biomarker	[99]
ELN	OTFSO7PG	Strong	Biomarker	[100]
FLCN	OTVM78XM	Strong	Biomarker	[101]
FUT8	OTJJCVG1	Strong	Altered Expression	[67]
HHIP	OT77RQYS	Strong	Genetic Variation	[102]
ITGAX	OTOGIMHE	Strong	Biomarker	[26]
KLF10	OT4F4UGS	Strong	Altered Expression	[103]
KLF9	OTBFEJRQ	Strong	Altered Expression	[103]
MMP28	OTHQZXM1	Strong	Biomarker	[48]
PPT2	OTD5VJ9A	Strong	Genetic Variation	[82]
SERPINA3	OT9BP2S0	Strong	Biomarker	[34]
SERPINE2	OTYF5340	Strong	Genetic Variation	[104]
SESN2	OT889IXY	Strong	Biomarker	[105]
SFTPC	OTIZJD09	Strong	Biomarker	[106]
SNRPF	OTZE5W6G	Strong	Genetic Variation	[82]
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⏷ Show the Full List of 69 DOT(s)

References

1	Aminophylline FDA Label
2	Arformoterol FDA Label
3	Dyphylline FDA Label
4	Epinephrine FDA Label
5	Fluticasone propionate FDA Label
6	Formoterol FDA Label
7	Norepinephrine FDA Label
8	Pirbuterol FDA Label
9	Salmeterol FDA Label
10	Terbutaline FDA Label
11	Theophylline FDA Label
12	Tiotropium FDA Label
13	Vilanterol FDA Label
14	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800009108)
15	Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution.Am J Respir Cell Mol Biol. 2019 Apr;60(4):388-398. doi: 10.1165/rcmb.2018-0110OC.
16	On the Potential Role of MRI Biomarkers of COPD to Guide Bronchoscopic Lung Volume Reduction.Acad Radiol. 2018 Feb;25(2):159-168. doi: 10.1016/j.acra.2017.08.010. Epub 2017 Oct 16.
17	Role for Cela1 in Postnatal Lung Remodeling and Alpha-1 Antitrypsin-Deficient Emphysema.Am J Respir Cell Mol Biol. 2018 Aug;59(2):167-178. doi: 10.1165/rcmb.2017-0361OC.
18	Identification of novel candidate genes involved in the progression of emphysema by bioinformatic methods.Int J Chron Obstruct Pulmon Dis. 2018 Nov 14;13:3733-3747. doi: 10.2147/COPD.S183100. eCollection 2018.
19	Cholesterol metabolism promotes B-cell positioning during immune pathogenesis of chronic obstructive pulmonary disease.EMBO Mol Med. 2018 May;10(5):e8349. doi: 10.15252/emmm.201708349.
20	The 6-Minute Walk Test as a Tool for Determining Exercise Capacity and Prognosis in Patients with Silicosis.Arch Bronconeumol (Engl Ed). 2019 Feb;55(2):88-92. doi: 10.1016/j.arbres.2018.07.004. Epub 2018 Aug 9.
21	Mmp1a and Mmp1b are not functional orthologs to human MMP1 in cigarette smoke induced lung disease.Exp Toxicol Pathol. 2015 Feb;67(2):153-9. doi: 10.1016/j.etp.2014.11.004. Epub 2014 Dec 10.
22	PARP-1 inhibition provides protection against elastase-induced emphysema by mitigating the expression of matrix metalloproteinases.Mol Cell Biochem. 2019 Jul;457(1-2):41-49. doi: 10.1007/s11010-019-03510-1. Epub 2019 Apr 15.
23	Differential coexpression networks in bronchiolitis and emphysema phenotypes reveal heterogeneous mechanisms of chronic obstructive pulmonary disease.J Cell Mol Med. 2019 Oct;23(10):6989-6999. doi: 10.1111/jcmm.14585. Epub 2019 Aug 16.
24	Mitochondrial dysfunction in human primary alveolar type II cells in emphysema.EBioMedicine. 2019 Aug;46:305-316. doi: 10.1016/j.ebiom.2019.07.063. Epub 2019 Aug 2.
25	MMP-12 activates protease-activated receptor-1, upregulates placenta growth factor, and leads to pulmonary emphysema.Am J Physiol Lung Cell Mol Physiol. 2018 Sep 1;315(3):L432-L442. doi: 10.1152/ajplung.00216.2017. Epub 2018 May 3.
26	Activation of C3a receptor is required in cigarette smoke-mediated emphysema.Mucosal Immunol. 2015 Jul;8(4):874-85. doi: 10.1038/mi.2014.118. Epub 2014 Dec 3.
27	Cathepsin E promotes pulmonary emphysema via mitochondrial fission.Am J Pathol. 2014 Oct;184(10):2730-41. doi: 10.1016/j.ajpath.2014.06.017.
28	Deficient retinoid-driven angiogenesis may contribute to failure of adult human lung regeneration in emphysema.Thorax. 2017 Jun;72(6):510-521. doi: 10.1136/thoraxjnl-2016-208846. Epub 2017 Jan 13.
29	Rtp801, a suppressor of mTOR signaling, is an essential mediator of cigarette smoke-induced pulmonary injury and emphysema.Nat Med. 2010 Jul;16(7):767-73. doi: 10.1038/nm.2157. Epub 2010 May 16.
30	Blockade of RAGE ameliorates elastase-induced emphysema development and progression via RAGE-DAMP signaling.FASEB J. 2017 May;31(5):2076-2089. doi: 10.1096/fj.201601155R. Epub 2017 Feb 1.
31	Gene expression profile of human lung in a relatively early stage of COPD with emphysema.Int J Chron Obstruct Pulmon Dis. 2018 Aug 28;13:2643-2655. doi: 10.2147/COPD.S166812. eCollection 2018.
32	Expression of plasma phospholipid transfer protein mRNA in normal and emphysematous lungs and regulation by hypoxia.J Biol Chem. 1998 Jun 19;273(25):15714-8. doi: 10.1074/jbc.273.25.15714.
33	Heterozygous Vangl2(Looptail) mice reveal novel roles for the planar cell polarity pathway in adult lung homeostasis and repair.Dis Model Mech. 2017 Apr 1;10(4):409-423. doi: 10.1242/dmm.028175. Epub 2017 Feb 24.
34	Conformational pathology of the serpins: themes, variations, and therapeutic strategies.Annu Rev Biochem. 2009;78:147-76. doi: 10.1146/annurev.biochem.78.082107.133320.
35	TGF--Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development?.Am J Physiol Lung Cell Mol Physiol. 2013 Jan 15;304(2):L83-5. doi: 10.1152/ajplung.00258.2012. Epub 2012 Nov 16.
36	Ceramide-1-phosphate inhibits cigarette smoke-induced airway inflammation.Eur Respir J. 2015 Jun;45(6):1669-80. doi: 10.1183/09031936.00080014. Epub 2015 Jan 22.
37	Shelterin Telomere Protection Protein 1 Reduction Causes Telomere Attrition and Cellular Senescence via Sirtuin 1 Deacetylase in Chronic Obstructive Pulmonary Disease.Am J Respir Cell Mol Biol. 2017 Jan;56(1):38-49. doi: 10.1165/rcmb.2016-0198OC.
38	RAGE is a Critical Mediator of Pulmonary Oxidative Stress, Alveolar Macrophage Activation and Emphysema in Response to Cigarette Smoke.Sci Rep. 2019 Jan 18;9(1):231. doi: 10.1038/s41598-018-36163-z.
39	Common functional polymorphisms in the cathepsin S promoter in Japanese subjects: possible contribution to pulmonary emphysema.Respirology. 2008 Jun;13(4):498-504. doi: 10.1111/j.1440-1843.2008.01280.x. Epub 2008 Apr 10.
40	Association of CYP2A6 deletion polymorphism with smoking habit and development of pulmonary emphysema.Thorax. 2003 Jul;58(7):623-8. doi: 10.1136/thorax.58.7.623.
41	Is the purinergic pathway involved in the pathology of COPD? Decreased lung CD39 expression at initial stages of COPD.Respir Res. 2018 May 28;19(1):103. doi: 10.1186/s12931-018-0793-0.
42	Myeloid-specific Fos-related antigen-1 regulates cigarette smoke-induced lung inflammation, not emphysema, in mice.Am J Respir Cell Mol Biol. 2015 Jul;53(1):125-34. doi: 10.1165/rcmb.2014-0118OC.
43	Genetic ablation of histone deacetylase 2 leads to lung cellular senescence and lymphoid follicle formation in COPD/emphysema.FASEB J. 2018 Sep;32(9):4955-4971. doi: 10.1096/fj.201701518R. Epub 2018 Apr 9.
44	Prolonged cigarette smoke exposure decreases heme oxygenase-1 and alters Nrf2 and Bach1 expression in human macrophages: roles of the MAP kinases ERK(1/2) and JNK.FEBS Lett. 2009 Nov 3;583(21):3508-18. doi: 10.1016/j.febslet.2009.10.010. Epub 2009 Oct 12.
45	IL-13-driven pulmonary emphysema leads to skeletal muscle dysfunction attenuated by endurance exercise.J Appl Physiol (1985). 2020 Jan 1;128(1):134-148. doi: 10.1152/japplphysiol.00627.2019. Epub 2019 Nov 27.
46	Functional characterization of a porcine emphysema model.Lung. 2013 Dec;191(6):669-75. doi: 10.1007/s00408-013-9504-2. Epub 2013 Sep 17.
47	The copper dependent-lysyl oxidases contribute to the pathogenesis of pulmonary emphysema in chronic obstructive pulmonary disease patients.J Trace Elem Med Biol. 2017 Dec;44:247-255. doi: 10.1016/j.jtemb.2017.08.011. Epub 2017 Sep 1.
48	Matrix metalloproteinases in emphysema.Matrix Biol. 2018 Nov;73:34-51. doi: 10.1016/j.matbio.2018.01.018. Epub 2018 Mar 23.
49	Eosinophil-derived IL-13 promotes emphysema.Eur Respir J. 2019 May 30;53(5):1801291. doi: 10.1183/13993003.01291-2018. Print 2019 May.
50	Relationship Between Circulating Serpina3g, Matrix Metalloproteinase-9, and Tissue Inhibitor of Metalloproteinase-1 and -2 with Chronic Obstructive Pulmonary Disease Severity.Biomolecules. 2019 Feb 13;9(2):62. doi: 10.3390/biom9020062.
51	-1-antitrypsin variants and the proteinase/antiproteinase imbalance in chronic obstructive pulmonary disease.Am J Physiol Lung Cell Mol Physiol. 2015 Jan 15;308(2):L179-90. doi: 10.1152/ajplung.00179.2014.
52	Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies.Clin Med (Lond). 2005 May-Jun;5(3):249-57. doi: 10.7861/clinmedicine.5-3-249.
53	Emphysema and extrapulmonary tissue loss in COPD: a multi-organ loss of tissue phenotype.Eur Respir J. 2018 Feb 7;51(2):1702146. doi: 10.1183/13993003.02146-2017. Print 2018 Feb.
54	Mutations in a TGF- ligand, TGFB3, cause syndromic aortic aneurysms and dissections.J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.
55	TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.Hum Mutat. 2006 Aug;27(8):770-7. doi: 10.1002/humu.20354.
56	Master Autophagy Regulator Transcription Factor EB Regulates Cigarette Smoke-Induced Autophagy Impairment and Chronic Obstructive Pulmonary Disease-Emphysema Pathogenesis.Antioxid Redox Signal. 2017 Jul 20;27(3):150-167. doi: 10.1089/ars.2016.6842. Epub 2017 Feb 1.
57	Comparison of impedance measured by the forced oscillation technique and pulmonary functions, including static lung compliance, in obstructive and interstitial lung disease.Int J Chron Obstruct Pulmon Dis. 2019 May 24;14:1109-1118. doi: 10.2147/COPD.S198030. eCollection 2019.
58	ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.Pediatr Pulmonol. 2016 Jun;51(6):E21-3. doi: 10.1002/ppul.23379. Epub 2016 Jan 18.
59	HIV-Nef Protein Persists in the Lungs of Aviremic Patients with HIV and Induces Endothelial Cell Death.Am J Respir Cell Mol Biol. 2019 Mar;60(3):357-366. doi: 10.1165/rcmb.2018-0089OC.
60	Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15.
61	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.
62	End-product of fibrinogen is elevated in emphysematous chronic obstructive pulmonary disease and is predictive of mortality in the ECLIPSE cohort.Respir Med. 2019 Nov-Dec;160:105814. doi: 10.1016/j.rmed.2019.105814. Epub 2019 Nov 6.
63	A Polymorphism rs6726395 in Nrf2 Contributes to the Development of Emphysema-Associated Age in Smokers Without COPD.Lung. 2019 Oct;197(5):559-564. doi: 10.1007/s00408-019-00251-2. Epub 2019 Jul 11.
64	Combined pulmonary fibrosis and emphysema: How does cohabitation affect respiratory functions?.Adv Med Sci. 2019 Sep;64(2):285-291. doi: 10.1016/j.advms.2019.03.005. Epub 2019 Apr 1.
65	The cytoprotective role of DJ-1 and p45 NFE2 against human primary alveolar type II cell injury and emphysema.Sci Rep. 2018 Feb 23;8(1):3555. doi: 10.1038/s41598-018-21790-3.
66	Airway Resistance Caused by Sphingomyelin Synthase 2 Insufficiency in Response to Cigarette Smoke.Am J Respir Cell Mol Biol. 2020 Mar;62(3):342-353. doi: 10.1165/rcmb.2019-0133OC.
67	1,6-Fucosyltransferase (Fut8) is implicated in vulnerability to elastase-induced emphysema in mice and a possible non-invasive predictive marker for disease progression and exacerbations in chronic obstructive pulmonary disease (COPD).Biochem Biophys Res Commun. 2012 Jul 20;424(1):112-7. doi: 10.1016/j.bbrc.2012.06.081. Epub 2012 Jun 23.
68	Associations of ABHD2 genetic variations with risks for chronic obstructive pulmonary disease in a Chinese Han population.PLoS One. 2015 Apr 16;10(4):e0123929. doi: 10.1371/journal.pone.0123929. eCollection 2015.
69	Variable Susceptibility to Cigarette Smoke-Induced Emphysema in 34 Inbred Strains of Mice Implicates Abi3bp in Emphysema Susceptibility.Am J Respir Cell Mol Biol. 2017 Sep;57(3):367-375. doi: 10.1165/rcmb.2016-0220OC.
70	Critical role of proteostasis-imbalance in pathogenesis of COPD and severe emphysema.J Mol Med (Berl). 2011 Jun;89(6):577-93. doi: 10.1007/s00109-011-0732-8. Epub 2011 Feb 12.
71	The role of tumor necrosis factor- and interferon- in regulating angiomotin-like protein 1 expression in lung microvascular endothelial cells.Allergol Int. 2013 Sep;62(3):309-22. doi: 10.2332/allergolint.12-OA-0528. Epub 2013 Jun 25.
72	APOM and high-density lipoprotein cholesterol are associated with lung function and per cent emphysema.Eur Respir J. 2014 Apr;43(4):1003-17. doi: 10.1183/09031936.00147612. Epub 2013 Jul 30.
73	Role for interleukin-6 in COPD-related pulmonary hypertension.Chest. 2009 Sep;136(3):678-687. doi: 10.1378/chest.08-2420. Epub 2009 Apr 6.
74	ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.Exp Dermatol. 2019 Oct;28(10):1142-1145. doi: 10.1111/exd.13723. Epub 2018 Aug 20.
75	Implication of C-type lectin receptor langerin and keratan sulfate disaccharide in emphysema.Cell Immunol. 2018 Nov;333:80-84. doi: 10.1016/j.cellimm.2018.07.004. Epub 2018 Jul 17.
76	Cloning of dexamethasone-induced transcript: a novel glucocorticoid-induced gene that is upregulated in emphysema.Am J Respir Cell Mol Biol. 2001 Jul;25(1):119-24. doi: 10.1165/ajrcmb.25.1.4417.
77	Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice.Mol Cell Biol. 2006 Mar;26(5):1700-9. doi: 10.1128/MCB.26.5.1700-1709.2006.
78	Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.Am J Med Genet A. 2014 Sep;164A(9):2370-7. doi: 10.1002/ajmg.a.36630. Epub 2014 Jun 24.
79	Expression of GULP1 in bronchial epithelium is associated with the progression of emphysema in chronic obstructive pulmonary disease.Respir Med. 2017 Mar;124:72-78. doi: 10.1016/j.rmed.2017.02.011. Epub 2017 Feb 17.
80	Heme scavenging reduces pulmonary endoplasmic reticulum stress, fibrosis, and emphysema.JCI Insight. 2018 Nov 2;3(21):e120694. doi: 10.1172/jci.insight.120694.
81	Latent TGF- binding protein 2 and 4 have essential overlapping functions in microfibril development.Sci Rep. 2017 Mar 2;7:43714. doi: 10.1038/srep43714.
82	Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.Am J Respir Crit Care Med. 2014 Feb 15;189(4):408-18. doi: 10.1164/rccm.201306-1061OC.
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