메뉴 건너뛰기




Volumn 9, Issue 10, 2014, Pages

Molecular pathology of rare bleeding disorders (RBDs) in India: A systematic review

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; PROTHROMBIN; BLOOD CLOTTING FACTOR; FIBRINOGEN;

EID: 84907484402     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0108683     Document Type: Article
Times cited : (17)

References (32)
  • 3
    • 84873457884 scopus 로고    scopus 로고
    • Prevalence and pattern of consanguineous marriages among different communities in mangalore
    • Bhaskar B, Suresh S, Avadhani R (2012). Prevalence and Pattern of Consanguineous Marriages among Different Communities in Mangalore. Online Journal of Health and Allied Sciences 11:4.
    • (2012) Online Journal of Health and Allied Sciences , vol.11 , pp. 4
    • Bhaskar, B.1    Suresh, S.2    Avadhani, R.3
  • 4
    • 84879463196 scopus 로고    scopus 로고
    • Molecular basis of quantitative fibrinogen disorders in 27 patients from India
    • Sumitha E, Jayandharan GR, Arora N, Abraham A, David S, et al. (2013). Molecular basis of quantitative fibrinogen disorders in 27 patients from India. Haemophilia 19:611-618.
    • (2013) Haemophilia , vol.19 , pp. 611-618
    • Sumitha, E.1    Jayandharan, G.R.2    Arora, N.3    Abraham, A.4    David, S.5
  • 5
    • 33744471907 scopus 로고    scopus 로고
    • Fibrinogen Mumbai: Intracellular retention due to a novel G434D mutation in the Bb-chain gene
    • Monaldini L, Asselta R, Duga S, Peyvandi F, Ghosh K, et al. (2006). Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bb-chain gene. Haematologica 91:628-633.
    • (2006) Haematologica , vol.91 , pp. 628-633
    • Monaldini, L.1    Asselta, R.2    Duga, S.3    Peyvandi, F.4    Ghosh, K.5
  • 6
    • 25144524061 scopus 로고    scopus 로고
    • Molecular genetics of hereditary prothrombin deficiency in Indian patients: Identification of a novel Ala362> Thr (Prothrombin Vellore 1) mutation
    • Jayandharan G, Viswabandya A, Baidya S, Nair SC, Shaji RV, et al. (2005). Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362> Thr (Prothrombin Vellore 1) mutation. J Thromb and Haemost 3:1446-1453.
    • (2005) J Thromb and Haemost , vol.3 , pp. 1446-1453
    • Jayandharan, G.1    Viswabandya, A.2    Baidya, S.3    Nair, S.C.4    Shaji, R.V.5
  • 7
    • 84867337550 scopus 로고    scopus 로고
    • Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation
    • Kulkarni B, Kanakia S, Ghosh K, Shetty S (2012). Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. Ann Hematol 91:1667-8.
    • (2012) Ann Hematol , vol.91 , pp. 1667-1668
    • Kulkarni, B.1    Kanakia, S.2    Ghosh, K.3    Shetty, S.4
  • 8
    • 33845939313 scopus 로고    scopus 로고
    • Coagulation factor V gene analysis in five Indian patients: Identification of three novel small deletions
    • Asselta R, Dall'Osso C, Duga S, Spreafico M, Saxena R, et al. (2006). Coagulation factor V gene analysis in five Indian patients: identification of three novel small deletions. Haematologica 91:1724-1726.
    • (2006) Haematologica , vol.91 , pp. 1724-1726
    • Asselta, R.1    Dall'Osso, C.2    Duga, S.3    Spreafico, M.4    Saxena, R.5
  • 9
    • 34447293733 scopus 로고    scopus 로고
    • Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India
    • Jayandharan G, Spreafico M, Viswabandya A, Chandy M, Srivastava A, et al. (2007). Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India. Haemophilia 13:413-419.
    • (2007) Haemophilia , vol.13 , pp. 413-419
    • Jayandharan, G.1    Spreafico, M.2    Viswabandya, A.3    Chandy, M.4    Srivastava, A.5
  • 10
    • 23244461060 scopus 로고    scopus 로고
    • Mutations in the MCFD2 Gene and a novel mutation in the LMAN1 Gene in Indian families with combined deficiency of Factor V and VIII
    • Mohanty D, Ghosh K, Shetty S, Spreafic o M, Garagiola I, et al. (2005). Mutations in the MCFD2 Gene and a novel mutation in the LMAN1 Gene in Indian families with combined deficiency of Factor V and VIII. Am J Hematol 79:262-266.
    • (2005) Am J Hematol , vol.79 , pp. 262-266
    • Mohanty, D.1    Ghosh, K.2    Shetty, S.3    Spreafic, O.M.4    Garagiola, I.5
  • 11
    • 34548792820 scopus 로고    scopus 로고
    • Molecular basis of hereditary factor VII deficiency in India: Five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients
    • Jayandharan G, Viswabandya A, Nair SC, Chandy M, Srivastava A (2007). Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients. Haematologica 92:1002-1003.
    • (2007) Haematologica , vol.92 , pp. 1002-1003
    • Jayandharan, G.1    Viswabandya, A.2    Nair, S.C.3    Chandy, M.4    Srivastava, A.5
  • 12
    • 15744398453 scopus 로고    scopus 로고
    • First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene
    • Ahmed RPH, Biswas A, Kannan M, Bhattacharya M, Geisen C, et al. (2005). First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene. Thromb Res 115:535-536.
    • (2005) Thromb Res , vol.115 , pp. 535-536
    • Ahmed, R.P.H.1    Biswas, A.2    Kannan, M.3    Bhattacharya, M.4    Geisen, C.5
  • 13
    • 70349979511 scopus 로고    scopus 로고
    • Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India
    • Mota L, Shetty S, Idicula-Thomas S, Ghosh K (2009). Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India. Clin Chim Acta 409:106-111.
    • (2009) Clin Chim Acta , vol.409 , pp. 106-111
    • Mota, L.1    Shetty, S.2    Idicula-Thomas, S.3    Ghosh, K.4
  • 15
    • 25144477047 scopus 로고    scopus 로고
    • Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T>G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin
    • Jayandharan G, Viswabandya A, Baidya S, Nair SC, Shaji RV, et al. (2005). Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T>G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin. J Thromb Haemost 3:1482-7.
    • (2005) J Thromb Haemost , vol.3 , pp. 1482-1487
    • Jayandharan, G.1    Viswabandya, A.2    Baidya, S.3    Nair, S.C.4    Shaji, R.V.5
  • 16
    • 77954844713 scopus 로고    scopus 로고
    • Molecular basis of factor X deficiency cases from India
    • Mota L, Shetty S, Idicula-Thomas S, Ghosh K (2010). Molecular basis of factor X deficiency cases from India. Haemophilia 16:686-709.
    • (2010) Haemophilia , vol.16 , pp. 686-709
    • Mota, L.1    Shetty, S.2    Idicula-Thomas, S.3    Ghosh, K.4
  • 17
    • 23044484378 scopus 로고    scopus 로고
    • Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val)
    • Jayandharan G, Shaji RV, Nair SC, Chandy M, Srivastava A (2005). Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). J Thromb Haemost 3:808-811.
    • (2005) J Thromb Haemost , vol.3 , pp. 808-811
    • Jayandharan, G.1    Shaji, R.V.2    Nair, S.C.3    Chandy, M.4    Srivastava, A.5
  • 18
    • 17144363869 scopus 로고    scopus 로고
    • Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: A unified pathology?
    • Ghosh K, Nair S, Shetty S, Rajapurkar M, Mohanty D (2005). Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? Platelets 16:85-9.
    • (2005) Platelets , vol.16 , pp. 85-89
    • Ghosh, K.1    Nair, S.2    Shetty, S.3    Rajapurkar, M.4    Mohanty, D.5
  • 19
    • 84860343155 scopus 로고    scopus 로고
    • Correlating clinical manifestations with factor levels in rare bleeding disorders: A report from Southern India
    • Viswabandya A, Baidya S, Nair SC, Abraham A, George B, et al. (2012). Correlating clinical manifestations with factor levels in rare bleeding disorders: a report from Southern India. Haemophilia 18:e195-200.
    • (2012) Haemophilia , vol.18 , pp. e195-e200
    • Viswabandya, A.1    Baidya, S.2    Nair, S.C.3    Abraham, A.4    George, B.5
  • 20
    • 33645535436 scopus 로고    scopus 로고
    • Mutations in coagulation factor XIII A gene in eight unrelated Indians: Five novel mutations identified by a novel PCR-CSGE approach
    • Jayandharan G, Viswabandya A, Baidya S, Nair SC, George B, et al. (2006). Mutations in coagulation factor XIII A gene in eight unrelated Indians: Five novel mutations identified by a novel PCR-CSGE approach. Thromb Haemost 95:551-6.
    • (2006) Thromb Haemost , vol.95 , pp. 551-556
    • Jayandharan, G.1    Viswabandya, A.2    Baidya, S.3    Nair, S.C.4    George, B.5
  • 21
    • 80052025085 scopus 로고    scopus 로고
    • Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: Five novel mutations detected
    • Shanbhag S, Shetty S, Ghosh K (2011). Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: five novel mutations detected. Haemophilia 17:e831-848.
    • (2011) Haemophilia , vol.17 , pp. e831-e848
    • Shanbhag, S.1    Shetty, S.2    Ghosh, K.3
  • 23
    • 33746618745 scopus 로고    scopus 로고
    • Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients
    • Nelson EJR, Nair SC, Peretz H, Coller BS, Seligsohn U, et al. (2006). Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. J Thromb Haemost 4:1730-7.
    • (2006) J Thromb Haemost , vol.4 , pp. 1730-1737
    • Nelson, E.J.R.1    Nair, S.C.2    Peretz, H.3    Coller, B.S.4    Seligsohn, U.5
  • 24
    • 29244462341 scopus 로고    scopus 로고
    • Three novel b-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-AIIb, but variably impaired progression of pro-AIIbb3 from endoplasmic reticulum to Golgi
    • Nelson EJR, Li J, Mitchell WB, Chandy M, Srivastava A, et al. (2005). Three novel b-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-aIIb, but variably impaired progression of pro-aIIbb3 from endoplasmic reticulum to Golgi. J Thromb Haemost 3:2773-83.
    • (2005) J Thromb Haemost , vol.3 , pp. 2773-2783
    • Nelson, E.J.R.1    Li, J.2    Mitchell, W.B.3    Chandy, M.4    Srivastava, A.5
  • 25
    • 23944442844 scopus 로고    scopus 로고
    • Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients
    • Nair S, Ghosh K, Shetty S, Mohanty D (2005). Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. J Thromb Haemost 3:482-8.
    • (2005) J Thromb Haemost , vol.3 , pp. 482-488
    • Nair, S.1    Ghosh, K.2    Shetty, S.3    Mohanty, D.4
  • 26
    • 0036712297 scopus 로고    scopus 로고
    • Two New b3 Integrin Mutations in Indian Patients with Glanzmann Thrombasthenia: Localization of Mutations affecting Cysteine Residues in Integrin b3
    • Nair S, Li J, Mitchell WB, Mohanty D, Coller BS, et al. (2002). Two New b3 Integrin Mutations in Indian Patients with Glanzmann Thrombasthenia: Localization of Mutations affecting Cysteine Residues in Integrin b3. Thromb Haemost 88:503-9.
    • (2002) Thromb Haemost , vol.88 , pp. 503-509
    • Nair, S.1    Li, J.2    Mitchell, W.B.3    Mohanty, D.4    Coller, B.S.5
  • 27
    • 61649112977 scopus 로고    scopus 로고
    • Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India
    • Vijapurkar M, Ghosh K, Shetty S (2009). Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. Platelets 20:35-40.
    • (2009) Platelets , vol.20 , pp. 35-40
    • Vijapurkar, M.1    Ghosh, K.2    Shetty, S.3
  • 28
    • 70449399296 scopus 로고    scopus 로고
    • Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia
    • Kannan M, Ahmad F, Yadav BK, Kumar R, Choudhry VP, et al. (2009). Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. J Thromb Haemost 7:1878-85.
    • (2009) J Thromb Haemost , vol.7 , pp. 1878-1885
    • Kannan, M.1    Ahmad, F.2    Yadav, B.K.3    Kumar, R.4    Choudhry, V.P.5
  • 29
    • 77249106122 scopus 로고    scopus 로고
    • Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: A report on two families
    • Kannan M, Yadav BK, Ahmad F, Saxena R (2010). Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families. Int J Lab Hematol 32:e158-162.
    • (2010) Int J Lab Hematol , vol.32 , pp. e158-e162
    • Kannan, M.1    Yadav, B.K.2    Ahmad, F.3    Saxena, R.4
  • 31
    • 84884788071 scopus 로고    scopus 로고
    • Molecular pathology of Bernard-Soulier syndrome in Indian patients
    • Ali S, Ghosh K, Shetty S (2013). Molecular pathology of Bernard-Soulier syndrome in Indian patients. Platelets 24:571-3.
    • (2013) Platelets , vol.24 , pp. 571-573
    • Ali, S.1    Ghosh, K.2    Shetty, S.3
  • 32
    • 84907489780 scopus 로고    scopus 로고
    • Novel genetic abnormalities in Bernard-Soulier syndrome in India
    • Sep. 1. Epub ahead of print. PMID: 23995613
    • Ali S, Ghosh K, Shetty S (2013). Novel genetic abnormalities in Bernard-Soulier syndrome in India. Ann Hematol. Sep. 1. [Epub ahead of print]. PMID: 23995613.
    • (2013) Ann Hematol
    • Ali, S.1    Ghosh, K.2    Shetty, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.