Details of Disease

General Information of Disease (ID: DIS9X3H6)

Disease Name	Coagulation defect
Synonyms	postpartum coagulation defect with delivery; postpartum coagulation defect; disorders, blood coagulation; disorder, blood coagulation; coagulopathy; coagulation disorders, blood; coagulation disorder, blood; coagulation disorder; coagulation defect; blood coagulation disorder
Disease Class	3B10: Coagulation defect
Definition	A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood.
Disease Hierarchy	DISWD40R: Disease DIS9XD9A: Hematologic disease DIS9X3H6: Coagulation defect
ICD Code	ICD-11 ICD-11: 3B10.0 ICD-9 ICD-9: 286 Expand ICD-9 286
Disease Identifiers	MONDO ID MONDO_0001531 MESH ID D001778 UMLS CUI C0005779 MedGen ID 604 HPO ID HP:0003256 SNOMED CT ID 362970003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 12 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Anisindione	DM2C48U	Approved	Small molecular drug	[1]
Antithrombin iii	DMMAYJM	Approved	NA	[2]
Desirudin Recombinant	DM2BTFN	Approved	NA	[2]
Heparin Calcium	DMEVXY6	Approved	NA	[2]
Heparin Sodium	DM9KHZL	Approved	NA	[2]
Lmw heparin	DMJPD06	Approved	Small molecular drug	[2]
Menadiol sodium diphosphate	DMP9N85	Approved	Small molecular drug	[2]
Nadroparin calcium	DMBNKST	Approved	NA	[2]
Nordimmun	DMSUSJD	Approved	NA	[2]
Phenindione	DM2PYNR	Approved	Small molecular drug	[3]
Vitamin C	DMXJ7O8	Approved	Small molecular drug	[4]
Vitamin E	DMZC90K	Approved	Small molecular drug	[5]
------------------------------------------------------------------------------------


⏷ Show the Full List of 12 Drug(s)

This Disease is Treated as An Indication in 11 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
KW-3357	DMP3GI2	Phase 3	NA	[6]
Alpha-1 antitrypsin	DM5EFXZ	Phase 2	NA	[7]
ISIS-FXI	DMHETPI	Phase 2	Antisense drug	[8]
ONO-3307	DMQGO74	Phase 2	Small molecular drug	[9]
PMX-60056	DMWT73D	Phase 2	Small molecular drug	[10]
B1-655075	DM4XPCR	Phase 1	NA	[11]
DP-4088	DMXZ6A0	Phase 1	NA	[12]
R-1663	DM64U1Y	Phase 1	NA	[13]
GSK-264220A	DMCV5ND	Clinical trial	Small molecular drug	[14]
KGP94	DM2NZ6K	Clinical trial	Small molecular drug	[15]
VU0364739	DMOI0TN	Clinical trial	Small molecular drug	[16]
------------------------------------------------------------------------------------


⏷ Show the Full List of 11 Drug(s)

This Disease is Treated as An Indication in 4 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Ximelagatran	DMABRJL	Withdrawn from market	Small molecular drug	[17]
DX-9065	DMEQLC4	Discontinued in Phase 2	NA	[18]
Aprosulate sodium	DMRLHNW	Discontinued in Phase 1	NA	[19]
BECIPARCIL	DME18S5	Discontinued in Phase 1	Small molecular drug	[20]
------------------------------------------------------------------------------------

This Disease is Treated as An Indication in 8 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Long-acting factor VIII	DMZUSJD	Investigative	NA	[21]
SOM-0720	DML1ORL	Investigative	NA	[22]
TT-113	DM81EN1	Investigative	NA	[22]
TT-114	DMBE4UO	Investigative	NA	[22]
TT-115	DMPZFPR	Investigative	NA	[22]
TT-120	DM9RFZE	Investigative	NA	[22]
TT-123	DMS3S81	Investigative	NA	[22]
TT-124	DM6P892	Investigative	NA	[22]
------------------------------------------------------------------------------------


⏷ Show the Full List of 8 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 36 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS13	TTUREBK	Limited	Biomarker	[23]
F8	TT1290U	Limited	Biomarker	[24]
GNAQ	TTL1SRG	Limited	Biomarker	[25]
PROC	TTZUXYS	Limited	Biomarker	[26]
STAT1	TTN7R6K	Limited	CausalMutation	[27]
HMOX1	TTI6V2A	moderate	Biomarker	[28]
ABCB11	TTUXCAF	Strong	Altered Expression	[29]
ACVRL1	TTGYPTC	Strong	Biomarker	[30]
CD36	TTPJMCU	Strong	Biomarker	[31]
CPB1	TT4UJX5	Strong	Genetic Variation	[32]
ENG	TTB30LE	Strong	Genetic Variation	[33]
ENPP2	TTSCIM2	Strong	Altered Expression	[34]
F10	TTCIHJA	Strong	Biomarker	[35]
F13A1	TTXI2RA	Strong	Biomarker	[36]
F2R	TTL935N	Strong	Biomarker	[37]
F7	TTF0EGX	Strong	Altered Expression	[38]
GP1BA	TTVB0Q9	Strong	Biomarker	[39]
GP6	TTTJUVZ	Strong	Biomarker	[40]
KLKB1	TTN0PCX	Strong	Biomarker	[41]
MYH2	TTBIL13	Strong	Biomarker	[42]
NAAA	TTMN4HY	Strong	Biomarker	[43]
P2RY12	TTZ1DT0	Strong	Biomarker	[44]
PRKG1	TT7IZSA	Strong	Biomarker	[45]
PTPN11	TT7WUAV	Strong	Biomarker	[46]
PTPRJ	TTWMKXP	Strong	Biomarker	[47]
RNF34	TTEWDK1	Strong	Biomarker	[48]
SELP	TTE5VG0	Strong	Altered Expression	[49]
SELPLG	TTS5K8U	Strong	Biomarker	[50]
SERPINA1	TTA7UJC	Strong	Genetic Variation	[51]
SERPINC1	TT4QPUL	Strong	Biomarker	[52]
TBXA2R	TT2O84V	Strong	Genetic Variation	[53]
TFPI	TT068JH	Strong	Altered Expression	[54]
THBD	TTAPV67	Strong	Biomarker	[55]
TNFRSF17	TTZ3P4W	Strong	Biomarker	[56]
VKORC1	TTEUC8H	Strong	Genetic Variation	[57]
GGCX	TT76OLR	Definitive	Genetic Variation	[58]
------------------------------------------------------------------------------------


⏷ Show the Full List of 36 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC6	DT582KR	Strong	Genetic Variation	[59]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
BAAT	DERA3OF	Strong	Biomarker	[60]
------------------------------------------------------------------------------------

This Disease Is Related to 47 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COX8A	OTU0NR39	Limited	Biomarker	[61]
RASGRP2	OTABVLVQ	Limited	Genetic Variation	[62]
SERPINF2	OTZGAF8B	Limited	Biomarker	[63]
PRB2	OTAD4JZ0	Disputed	Genetic Variation	[64]
NBEAL2	OTMCAXWR	moderate	Genetic Variation	[65]
ACTN1	OTUCLNXH	Strong	Genetic Variation	[66]
AK3	OTM59ZGG	Strong	Altered Expression	[67]
ANKRD26	OT2ENKKV	Strong	Genetic Variation	[68]
AP3B1	OTYTIH5Q	Strong	Genetic Variation	[69]
APCDD1	OTV9AD0L	Strong	Biomarker	[70]
ASPG	OT5E2EKR	Strong	Biomarker	[71]
BTBD8	OT3A3RD7	Strong	Biomarker	[72]
CARTPT	OTTE4V9S	Strong	Biomarker	[56]
CDSN	OTQW4HV6	Strong	Biomarker	[73]
CISD2	OTVS7S2H	Strong	Biomarker	[74]
CLDN11	OTNN6UTL	Strong	Biomarker	[75]
CLEC1B	OTO38TRG	Strong	Biomarker	[76]
COL1A1	OTI31178	Strong	Biomarker	[77]
COL5A1	OT24078H	Strong	Biomarker	[77]
COL5A2	OT5VOSQE	Strong	Biomarker	[78]
CRYGD	OTW29JC4	Strong	Biomarker	[79]
FERMT3	OTFQOT3C	Strong	Genetic Variation	[62]
GFI1B	OTRDW8YO	Strong	Genetic Variation	[80]
GP9	OTA19OKO	Strong	Biomarker	[81]
GTF2A1L	OTDQHVAI	Strong	Biomarker	[82]
HOXD13	OTWSC8TF	Strong	Biomarker	[83]
HPS1	OTKS5I7T	Strong	Biomarker	[84]
HPS4	OTBTW01J	Strong	Biomarker	[84]
HPS5	OTLO2374	Strong	Genetic Variation	[85]
HPS6	OTXL5KQW	Strong	Genetic Variation	[86]
ITGA2B	OT4Y17PY	Strong	Biomarker	[87]
LMAN1	OTYHKDEO	Strong	Genetic Variation	[88]
MATN1	OTBRTCTQ	Strong	Biomarker	[89]
MB	OTYWYL2D	Strong	Biomarker	[90]
MCFD2	OTM0XU0U	Strong	Genetic Variation	[88]
MFAP2	OTMHVBTV	Strong	Altered Expression	[91]
MPI	OTBH6ZK1	Strong	Biomarker	[92]
OTOR	OTA62UQB	Strong	Genetic Variation	[93]
PC	OT6O0V51	Strong	Altered Expression	[94]
PRH1	OTQZ6HX0	Strong	Biomarker	[95]
PROS1	OTXQWNOI	Strong	Biomarker	[96]
RHOF	OTPA3F8Q	Strong	Biomarker	[48]
SERPINA3	OT9BP2S0	Strong	Biomarker	[97]
SH2B2	OTEDHHDH	Strong	Biomarker	[98]
STIM1	OT8CLQ1W	Strong	Genetic Variation	[99]
STON1	OT2HPUAI	Strong	Biomarker	[82]
STXBP2	OTX8GUC4	Strong	Altered Expression	[100]
------------------------------------------------------------------------------------


⏷ Show the Full List of 47 DOT(s)

References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6960).
2	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
3	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6838).
4	Dermatoporosis and vitamin C deficiency. J Eur Acad Dermatol Venereol. 2018 Oct;32(10):e383.
5	Riboflavin FDA Label
6	ClinicalTrials.gov (NCT01384903) An Open-label Study of KW-3357. U.S. National Institutes of Health.
7	Technology evaluation: transgenic alpha-1-antitrypsin (AAT), PPL therapeutics. Curr Opin Mol Ther. 2000 Apr;2(2):199-204.
8	ClinicalTrials.gov (NCT01713361) Active Comparator-Controlled Study to Assess Safety and Efficacy of ISIS-FXIRx in Total Knee Arthroplasty. U.S. National Institutes of Health.
9	Inhibitory effects of ONO-3307 on various proteases and tissue thromboplastin in vitro and on experimental thrombosis in vivo. Jpn J Pharmacol. 1989 Dec;51(4):455-63.
10	ClinicalTrials.gov (NCT01312935) Reversal of Heparin in Patients Undergoing Percutaneous Coronary Intervention (PCI). U.S. National Institutes of Health.
11	Clinical pipeline report, company report or official report of Boehringer Ingelheim Pharmaceuticals.
12	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800028740)
13	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800024856)
14	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6697).
15	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6533).
16	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5287).
17	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6381).
18	DX-9065a Daiichi. Curr Opin Investig Drugs. 2003 Sep;4(9):1105-12.
19	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002026)
20	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800004709)
21	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2607).
22	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
23	Positive Response and Increase in ADAMTS13 with Scheduled Rituximab in a Patient with Relapsing Thrombotic Thrombocytopenic Purpura.Cureus. 2019 Jul 1;11(7):e5054. doi: 10.7759/cureus.5054.
24	A Molecular Revolution in the Treatment of Hemophilia.Mol Ther. 2020 Apr 8;28(4):997-1015. doi: 10.1016/j.ymthe.2019.11.006. Epub 2019 Nov 13.
25	Defective platelet activation in G alpha(q)-deficient mice. Nature. 1997 Sep 11;389(6647):183-6.
26	Elevated fibrinogen, von Willebrand factor, and Factor VIII confer resistance to dilutional coagulopathy and activated protein C in normal pregnant women.Br J Anaesth. 2019 Jun;122(6):751-759. doi: 10.1016/j.bja.2019.02.012. Epub 2019 Mar 19.
27	A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.J Allergy Clin Immunol Pract. 2016 Jul-Aug;4(4):777-9. doi: 10.1016/j.jaip.2016.02.015. Epub 2016 Apr 23.
28	Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency.J Clin Invest. 1999 Jan;103(1):129-35. doi: 10.1172/JCI4165.
29	Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713.
30	Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.Am J Med Genet A. 2006 Mar 1;140(5):463-70. doi: 10.1002/ajmg.a.31101.
31	Studies on CD36 deficiency in South China: Two cases demonstrating the clinical impact of anti-CD36 antibodies.Thromb Haemost. 2013 Dec;110(6):1199-206. doi: 10.1160/TH13-05-0435. Epub 2013 Aug 22.
32	Thrombelastometry guided blood-component therapy after cardiac surgery: a randomized study.BMC Anesthesiol. 2019 Nov 6;19(1):201. doi: 10.1186/s12871-019-0875-7.
33	A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.J Dent Res. 2006 Aug;85(8):705-10. doi: 10.1177/154405910608500804.
34	Autotaxin/lysopholipase D and lysophosphatidic acid regulate murine hemostasis and thrombosis.J Biol Chem. 2009 Mar 13;284(11):7385-94. doi: 10.1074/jbc.M807820200. Epub 2009 Jan 12.
35	Prohemostatic Activity of Factor X in Combination With Activated Factor VII in Dilutional Coagulopathy.Anesth Analg. 2019 Aug;129(2):339-345. doi: 10.1213/ANE.0000000000003858.
36	Identification of a large deletion, spanning exons 4 to 11 of the human factor XIIIA gene, in a factor XIII-deficient family.Blood. 1998 Jan 1;91(1):149-53.
37	Platelet dysfunction after Out of Hospital Cardiac Arrest. Results from POHCAR: A prospective observational, cohort study.Resuscitation. 2019 Mar;136:105-111. doi: 10.1016/j.resuscitation.2019.01.025. Epub 2019 Feb 1.
38	Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy.J Clin Med. 2017 Mar 28;6(4):38. doi: 10.3390/jcm6040038.
39	Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.Biophys J. 2014 Sep 2;107(5):1185-1195. doi: 10.1016/j.bpj.2014.07.026.
40	Ibrutinib-related bleeding: pathogenesis, clinical implications and management.Blood Coagul Fibrinolysis. 2018 Sep;29(6):481-487. doi: 10.1097/MBC.0000000000000749.
41	The Effects of the Contact Activation System on Hemorrhage.Front Med (Lausanne). 2017 Jul 31;4:121. doi: 10.3389/fmed.2017.00121. eCollection 2017.
42	Dasatinib Reversibly Disrupts Endothelial Vascular Integrity by Increasing Non-Muscle Myosin II Contractility in a ROCK-Dependent Manner.Clin Cancer Res. 2017 Nov 1;23(21):6697-6707. doi: 10.1158/1078-0432.CCR-16-0667. Epub 2017 Aug 18.
43	Thromboelastography-Guided Blood Component Use in Patients With Cirrhosis With Nonvariceal Bleeding: A Randomized Controlled Trial.Hepatology. 2020 Jan;71(1):235-246. doi: 10.1002/hep.30794. Epub 2019 Aug 27.
44	Embolization for the treatment of intractable epistaxis: 12 month outcomes in a two centre case series.Br J Radiol. 2017 Dec;90(1080):20170472. doi: 10.1259/bjr.20170472. Epub 2017 Oct 26.
45	Diagnostic performance of prothrombin time point-of-care to detect acute traumatic coagulopathy on admission: experience of 522 cases in trauma center.Transfusion. 2018 Jul;58(7):1781-1791. doi: 10.1111/trf.14643. Epub 2018 Apr 29.
46	A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia.Leuk Lymphoma. 2018 Jan;59(1):245-248. doi: 10.1080/10428194.2017.1324162. Epub 2017 Jun 7.
47	The tyrosine phosphatase CD148 is an essential positive regulator of platelet activation and thrombosis.Blood. 2009 May 14;113(20):4942-54. doi: 10.1182/blood-2008-08-174318. Epub 2009 Feb 25.
48	The impact of oral arsenic and all-trans-retinoic acid on coagulopathy in acute promyelocytic leukemia.Leuk Res. 2018 Feb;65:14-19. doi: 10.1016/j.leukres.2017.11.009. Epub 2017 Nov 15.
49	Platelets retain inducible alpha granule secretion by P-selectin expression but exhibit mechanical dysfunction during trauma-induced coagulopathy.J Thromb Haemost. 2019 May;17(5):771-781. doi: 10.1111/jth.14414. Epub 2019 Mar 18.
50	The role of PSGL-1 in pathogenesis of systemic inflammatory response and coagulopathy in endotoxemic mice.Thromb Res. 2019 Oct;182:56-63. doi: 10.1016/j.thromres.2019.08.019. Epub 2019 Aug 19.
51	Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency.Br J Haematol. 1996 Sep;94(3):526-8. doi: 10.1046/j.1365-2141.1996.d01-1833.x.
52	Penicillin-induced coagulation disorder.Lancet. 1976 Nov 13;2(7994):1039-41. doi: 10.1016/s0140-6736(76)90963-6.
53	A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood. 2010 Jan 14;115(2):363-9. doi: 10.1182/blood-2009-08-236976. Epub 2009 Oct 14.
54	Nebulized Recombinant Human Tissue Factor Pathway Inhibitor Attenuates Coagulation and Exerts Modest Anti-inflammatory Effects in Rat Models of Lung Injury.J Aerosol Med Pulm Drug Deliv. 2017 Apr;30(2):91-99. doi: 10.1089/jamp.2016.1317. Epub 2016 Dec 15.
55	Fresh frozen plasma transfusion in patients with cirrhosis and coagulopathy: Effect on conventional coagulation tests and thrombomodulin-modified thrombin generation.J Hepatol. 2020 Jan;72(1):85-94. doi: 10.1016/j.jhep.2019.09.008. Epub 2019 Sep 16.
56	Coexistence Of A Huge Venous Thromboembolism And Bleeding Tendency In Cytokine Release Syndrome During CAR-T Therapy.Onco Targets Ther. 2019 Oct 30;12:8955-8960. doi: 10.2147/OTT.S223697. eCollection 2019.
57	Vitamin K-induced modification of coagulation phenotype in VKORC1 homozygous deficiency.J Thromb Haemost. 2008 May;6(5):797-803. doi: 10.1111/j.1538-7836.2008.02934.x. Epub 2008 Feb 25.
58	Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.Blood. 2016 Apr 14;127(15):1847-55. doi: 10.1182/blood-2015-10-677633. Epub 2016 Jan 12.
59	Acquired pseudoxanthoma elasticum presenting after liver transplantation.J Am Acad Dermatol. 2011 May;64(5):873-8. doi: 10.1016/j.jaad.2010.03.030. Epub 2011 Mar 12.
60	Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.Eur J Haematol. 2019 May;102(5):432-436. doi: 10.1111/ejh.13210. Epub 2019 Mar 6.
61	Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders.Cochrane Database Syst Rev. 2019 Feb 13;2(2):CD009824. doi: 10.1002/14651858.CD009824.pub4.
62	Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.Pediatr Blood Cancer. 2020 Feb;67(2):e28078. doi: 10.1002/pbc.28078. Epub 2019 Nov 14.
63	Alpha2-antiplasmin and its deficiency: fibrinolysis out of balance.Haemophilia. 2008 Nov;14(6):1250-4. doi: 10.1111/j.1365-2516.2008.01766.x.
64	Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy.Mol Ther. 2012 Mar;20(3):625-32. doi: 10.1038/mt.2011.231. Epub 2011 Nov 1.
65	A Case of Chronic Thrombocytopenia in a 17-Year-Old Female.Lab Med. 2019 Oct 10;50(4):406-420. doi: 10.1093/labmed/lmz013.
66	ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21.
67	Modifiers of clinical phenotype in severe congenital hemophilia.Thromb Res. 2017 Aug;156:60-64. doi: 10.1016/j.thromres.2017.05.038. Epub 2017 Jun 1.
68	Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.Blood. 2011 Jun 16;117(24):6673-80. doi: 10.1182/blood-2011-02-336537. Epub 2011 Apr 5.
69	Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.J Dermatol. 2020 Feb;47(2):185-189. doi: 10.1111/1346-8138.15177. Epub 2019 Dec 9.
70	Examining the Effect of Hypertonic Saline Administered for Reduction of Intracranial Hypertension on Coagulation.J Am Coll Surg. 2020 Mar;230(3):322-330.e2. doi: 10.1016/j.jamcollsurg.2019.11.011. Epub 2019 Dec 14.
71	Acquired Hypofibrinogenemia Before Asparaginase Exposure During Induction Therapy for Pediatric Acute Lymphoblastic Leukemia: A Report of 2 Cases and Review of the Literature.J Pediatr Hematol Oncol. 2018 Oct;40(7):e470-e472. doi: 10.1097/MPH.0000000000001114.
72	The reduced form of coagulation factor XI is associated with illness severity and coagulopathy in critically-ill septic patients.J Thromb Thrombolysis. 2019 Feb;47(2):186-191. doi: 10.1007/s11239-018-1797-9.
73	Thrombophilia and varicella zoster in children.Hematology. 2013 Mar;18(2):119-22. doi: 10.1179/1607845412Y.0000000055. Epub 2013 Jan 3.
74	A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. Hum Mol Genet. 2017 May 1;26(9):1599-1611. doi: 10.1093/hmg/ddx060.
75	Impaired platelet function in a patient with P2Y12 deficiency caused by a mutation in the translation initiation codon.J Thromb Haemost. 2005 Oct;3(10):2315-23. doi: 10.1111/j.1538-7836.2005.01554.x.
76	Essential in vivo roles of the platelet activation receptor CLEC-2 in tumour metastasis, lymphangiogenesis and thrombus formation.J Biochem. 2011 Aug;150(2):127-32. doi: 10.1093/jb/mvr079. Epub 2011 Jun 21.
77	Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.
78	Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.Hum Mol Genet. 1998 Feb;7(2):249-55. doi: 10.1093/hmg/7.2.249.
79	Adjusted versus actual body weight dosing of 4-factor prothrombin complex concentrate in obese patients with warfarin-associated major bleeding.J Thromb Thrombolysis. 2019 Apr;47(3):369-374. doi: 10.1007/s11239-018-1771-6.
80	Molecular mechanisms of bleeding disorderassociated GFI1B(Q287*) mutation and its affected pathways in megakaryocytes and platelets.Haematologica. 2019 Jul;104(7):1460-1472. doi: 10.3324/haematol.2018.194555. Epub 2019 Jan 17.
81	The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIb.Ann Hematol. 2010 Jan;89(1):75-81. doi: 10.1007/s00277-009-0763-1. Epub 2009 May 30.
82	Bleeding complications in acute liver failure.Hepatology. 2018 May;67(5):1931-1942. doi: 10.1002/hep.29694. Epub 2018 Mar 26.
83	Molecular determinants of platelet delta storage pool deficiencies: an update.Br J Haematol. 2013 Jan;160(1):5-11. doi: 10.1111/bjh.12064. Epub 2012 Oct 1.
84	Hermansky-Pudlak syndrome type 1 in patients of Indian descent.Mol Genet Metab. 2009 Jul;97(3):227-33. doi: 10.1016/j.ymgme.2009.03.011. Epub 2009 Apr 2.
85	Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.Platelets. 2018 Jan;29(1):91-94. doi: 10.1080/09537104.2017.1361019. Epub 2017 Nov 1.
86	Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3.
87	Mechanistic insights from a refined three-dimensional model of integrin alphaIIbbeta3.J Biol Chem. 2004 Jun 4;279(23):24624-30. doi: 10.1074/jbc.M400243200. Epub 2004 Mar 30.
88	Combined deficiency of coagulation factors V and VIII: an update.Semin Thromb Hemost. 2013 Sep;39(6):613-20. doi: 10.1055/s-0033-1349223. Epub 2013 Jul 12.
89	Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.Neurology. 2013 Aug 13;81(7):681-7. doi: 10.1212/WNL.0b013e3182a08f53. Epub 2013 Jul 19.
90	Acute renal replacement therapy in patients with major extremity injuries.Minerva Anestesiol. 2018 Jun;84(6):747-755. doi: 10.23736/S0375-9393.18.12474-6. Epub 2018 Feb 5.
91	Deficiency in microfibril-associated glycoprotein-1 leads to complex phenotypes in multiple organ systems.J Biol Chem. 2008 Sep 12;283(37):25533-25543. doi: 10.1074/jbc.M709962200. Epub 2008 Jul 14.
92	Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.J Pediatr. 1999 Dec;135(6):775-81. doi: 10.1016/s0022-3476(99)70103-4.
93	Coagulation Disorders after Chimeric Antigen Receptor T Cell Therapy: Analysis of 100 Patients with Relapsed and Refractory Hematologic Malignancies.Biol Blood Marrow Transplant. 2020 May;26(5):865-875. doi: 10.1016/j.bbmt.2019.11.027. Epub 2019 Nov 28.
94	Neonatal asphyxia and renal failure as the presentation of non-inherited protein C deficiency.J Perinatol. 2013 Mar;33(3):239-41. doi: 10.1038/jp.2012.55.
95	Variation of endothelium-related hemostatic factors during sepsis.Microcirculation. 2018 Nov;25(8):e12500. doi: 10.1111/micc.12500. Epub 2018 Oct 10.
96	Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk.Sci Rep. 2017 Apr 4;7:45507. doi: 10.1038/srep45507.
97	Coagulopathy as a predictor of mortality after penetrating traumatic brain injury.Am J Emerg Med. 2018 Jan;36(1):38-42. doi: 10.1016/j.ajem.2017.06.057. Epub 2017 Jul 5.
98	Coagulopathy triggered autoimmunity: experimental antiphospholipid syndrome in factor V Leiden mice.BMC Med. 2013 Apr 4;11:92. doi: 10.1186/1741-7015-11-92.
99	Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4.
100	Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.Pediatr Blood Cancer. 2013 Jul;60(7):1215-22. doi: 10.1002/pbc.24475. Epub 2013 Feb 4.