Lista de obras -

A common F13A1 intron 1 variant IVS1+12(A) is associated with mild FXIII deficiency in Caucasian population ⬇️

artículo científico publicado el 19 de marzo de 2013

An in silico and in vitro approach to elucidate the impact of residues flanking the cleavage scissile bonds of FVIII.

artículo científico publicado en 2017

An update of the mutation profile of Factor 13 A and B genes.

artículo científico publicado en 2011

Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS

artículo científico publicado en 2019

Beta2 glycoprotein 1 in Indian patients with SLE

artículo científico publicado en 2005

Clinicohematologic spectrum in patients with lupus anticoagulant.

artículo científico publicado en 2005

Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action

scientific journal article

Coagulation Factor XIIIa Inhibitor Tridegin: On the Role of Disulfide Bonds for Folding, Stability, and Function

artículo científico publicado en 2019

Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms

artículo científico

Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.

artículo científico publicado en 2017

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

artículo científico publicado en 2019

Disruption of Structural Disulfides of Coagulation FXIII-B Subunit; Functional Implications for a Rare Bleeding Disorder

artículo científico publicado en 2019

Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.

artículo científico publicado en 2014

Evaluation of role of FV, FVIII and APLAs in the pathogenesis of APCR in FV Leiden negative DVT patients: a study in India.

artículo científico publicado en 2017

Exploring Diverse Coagulation Factor XIII Subunit Expression Datasets: A Bioinformatic Analysis

artículo científico publicado en 2022

Exploring the structural similarity yet functional distinction between coagulation factor XIII-B and complement factor H sushi domains

scientific article published on 01 July 2019

Factor V Leiden: is it the chief contributor to activated protein C resistance in Asian-Indian patients with deep vein thrombosis?

artículo científico publicado en 2008

First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene

scientific article published on 24 November 2004

Gene tracking in a family of novel identical twins affected by severe type-III von Willebrand Disease (vWD).

artículo científico publicado en 2006

Homocystine levels, polymorphisms and the risk of ischemic stroke in young Asian Indians.

artículo científico publicado en 2009

Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfaces.

artículo científico publicado en 2013

Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance.

artículo científico publicado en 2016

Identification of Potential Novel Interacting Partners for Coagulation Factor XIII B (FXIII-B) Subunit, a Protein Associated with a Rare Bleeding Disorder

scientific article published on 31 May 2019

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

artículo científico publicado en 2010

Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.

artículo científico publicado en 2017

Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease.

artículo científico publicado en 2008

Impact of interleukin 6 promoter polymorphisms (-174 G > C, -572 G > C and -597 G > A) on plasma IL-6 levels and their influence on the development of DVT: a study from India

artículo científico publicado en 2018

Impact of thrombogenic mutations on clinical phenotypes of von Willebrand disease.

artículo científico publicado en 2009

In VitroSecretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models ⬇️

artículo científico publicado el 13 de septiembre de 2013

In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies

artículo científico publicado en 2019

Influence of Interleukin-6 (IL-6) Promoter Gene Polymorphisms (-174G>C, -572G>C, and -597G>A) on IL-6 Plasma Levels and Their Impact in the Development of Acute Ischemic Stroke in Young Indians

scientific article published on 01 January 2019

Inherited warfarin resistance in Indian patients: does it occur?

artículo científico publicado en 2007

Inherited warfarin resistance in Indian patients: does it occur?

artículo científico publicado en 2007

Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease ⬇️

artículo científico publicado el 28 de marzo de 2013

Insights into the Folding of Disulfide-Rich μ-Conotoxins

artículo científico publicado en 2018

Inter-locus as well as intra-locus heterogeneity in LINE-1 promoter methylation in common human cancers suggests selective demethylation pressure at specific CpGs.

artículo científico publicado en 2015

Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site

artículo científico publicado en 2016

Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients

artículo científico publicado en 2012

NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly

artículo científico publicado en 2014

NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16.

artículo científico publicado en 2015

Novel insights into structure and function of factor XIIIa-inhibitor tridegin.

artículo científico publicado en 2014

Prenatal diagnosis of haemophilia A by chorionic villus sampling and cordocentesis: all India Institute of Medical Science experience.

artículo científico publicado en 2007

Prevalence of Factor V Genetic Variants Associated With Indian APCR Contributing to Thrombotic Risk

artículo científico publicado en 2015

Protein C and Protein S: causative factor for developing a hemorrhagic infarct in a HbE/Beta thalassemia child.

artículo científico publicado en 2010

Prothrombotic factors and the risk of acute onset non-cardioembolic stroke in young Asian Indians.

artículo científico publicado en 2009

Prothrombotic polymorphisms, mutations, and their association with pediatric non-cardioembolic stroke in Asian-Indian patients.

artículo científico publicado en 2008

Recurrent abortions in Asian Indians: no role of factor V Leiden Hong Kong/Cambridge mutation and MTHFR polymorphism.

artículo científico publicado en 2007

Revisiting the mechanism of coagulation factor XIII activation and regulation from a structure/functional perspective ⬇️

artículo científico publicado en 2016

Screening of the GPX3 gene identifies the "T" allele of the SNP -861A/T as a risk for ischemic stroke in young Asian Indians

artículo científico publicado en 2014

Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A to be associated with acute onset ischemic stroke in young Asian Indians

artículo científico publicado en 2014

Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants

artículo científico publicado en 2015

The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif

artículo científico publicado en 2014

The Plasma Factor XIII Heterotetrameric Complex Structure: Unexpected Unequal Pairing within a Symmetric Complex

artículo científico publicado en 2019

The Role of PAI-1 4G/5G Promoter Polymorphism and Its Levels in the Development of Ischemic Stroke in Young Indian Population.

artículo científico publicado en 2017

The nitric oxide synthase 3 gene polymorphisms and their association with deep vein thrombosis in Asian Indian patients.

artículo científico publicado en 2010

Thrombin activatable fibrinolysis inhibitor gene polymorphisms are associated with antigenic levels in the Asian-Indian population but may not be a risk for stroke

scientific article published on 01 November 2008

Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile

scientific article published on 08 July 2018

Use of Intron 1 and 22 inversions and linkage analysis in carrier detection of hemophilia A in Indians.

artículo científico publicado en 2005

VKORC1 and VKORC1L1 have distinctly different oral anticoagulant dose-response characteristics and binding sites

artículo científico publicado en 2018

Warfarin and vitamin K compete for binding to Phe55 in human VKOR.

artículo científico publicado en 2016

Lista de obras de

A common F13A1 intron 1 variant IVS1+12(A) is associated with mild FXIII deficiency in Caucasian population ⬇️

An in silico and in vitro approach to elucidate the impact of residues flanking the cleavage scissile bonds of FVIII.

An update of the mutation profile of Factor 13 A and B genes.

Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS

Beta2 glycoprotein 1 in Indian patients with SLE

Clinicohematologic spectrum in patients with lupus anticoagulant.

Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action

Coagulation Factor XIIIa Inhibitor Tridegin: On the Role of Disulfide Bonds for Folding, Stability, and Function

Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms

Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

Disruption of Structural Disulfides of Coagulation FXIII-B Subunit; Functional Implications for a Rare Bleeding Disorder

Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.

Evaluation of role of FV, FVIII and APLAs in the pathogenesis of APCR in FV Leiden negative DVT patients: a study in India.

Exploring Diverse Coagulation Factor XIII Subunit Expression Datasets: A Bioinformatic Analysis

Exploring the structural similarity yet functional distinction between coagulation factor XIII-B and complement factor H sushi domains

Factor V Leiden: is it the chief contributor to activated protein C resistance in Asian-Indian patients with deep vein thrombosis?

First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene

Gene tracking in a family of novel identical twins affected by severe type-III von Willebrand Disease (vWD).

Homocystine levels, polymorphisms and the risk of ischemic stroke in young Asian Indians.

Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfaces.

Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn ) associated with activated protein C resistance.

Identification of Potential Novel Interacting Partners for Coagulation Factor XIII B (FXIII-B) Subunit, a Protein Associated with a Rare Bleeding Disorder

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.

Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease.

Impact of interleukin 6 promoter polymorphisms (-174 G > C, -572 G > C and -597 G > A) on plasma IL-6 levels and their influence on the development of DVT: a study from India

Impact of thrombogenic mutations on clinical phenotypes of von Willebrand disease.

In VitroSecretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models ⬇️

In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies

Influence of Interleukin-6 (IL-6) Promoter Gene Polymorphisms (-174G>C, -572G>C, and -597G>A) on IL-6 Plasma Levels and Their Impact in the Development of Acute Ischemic Stroke in Young Indians

Inherited warfarin resistance in Indian patients: does it occur?

Inherited warfarin resistance in Indian patients: does it occur?

Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease ⬇️

Insights into the Folding of Disulfide-Rich μ-Conotoxins

Inter-locus as well as intra-locus heterogeneity in LINE-1 promoter methylation in common human cancers suggests selective demethylation pressure at specific CpGs.

Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site

Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients

NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly

NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16.

Novel insights into structure and function of factor XIIIa-inhibitor tridegin.

Prenatal diagnosis of haemophilia A by chorionic villus sampling and cordocentesis: all India Institute of Medical Science experience.

Prevalence of Factor V Genetic Variants Associated With Indian APCR Contributing to Thrombotic Risk

Protein C and Protein S: causative factor for developing a hemorrhagic infarct in a HbE/Beta thalassemia child.

Prothrombotic factors and the risk of acute onset non-cardioembolic stroke in young Asian Indians.

Prothrombotic polymorphisms, mutations, and their association with pediatric non-cardioembolic stroke in Asian-Indian patients.

Recurrent abortions in Asian Indians: no role of factor V Leiden Hong Kong/Cambridge mutation and MTHFR polymorphism.

Revisiting the mechanism of coagulation factor XIII activation and regulation from a structure/functional perspective ⬇️

Screening of the GPX3 gene identifies the "T" allele of the SNP -861A/T as a risk for ischemic stroke in young Asian Indians

Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A to be associated with acute onset ischemic stroke in young Asian Indians

Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants

The Arg98Trp mutation in human VKORC1 causing VKCFD2 disrupts a di-arginine-based ER retention motif

The Plasma Factor XIII Heterotetrameric Complex Structure: Unexpected Unequal Pairing within a Symmetric Complex

The Role of PAI-1 4G/5G Promoter Polymorphism and Its Levels in the Development of Ischemic Stroke in Young Indian Population.

The nitric oxide synthase 3 gene polymorphisms and their association with deep vein thrombosis in Asian Indian patients.

Thrombin activatable fibrinolysis inhibitor gene polymorphisms are associated with antigenic levels in the Asian-Indian population but may not be a risk for stroke

Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile

Use of Intron 1 and 22 inversions and linkage analysis in carrier detection of hemophilia A in Indians.

VKORC1 and VKORC1L1 have distinctly different oral anticoagulant dose-response characteristics and binding sites

Warfarin and vitamin K compete for binding to Phe55 in human VKOR.