Amina Kamar - Academia.edu (original) (raw)
Papers by Amina Kamar
Additional file 1: Table S1. List of hearing loss genes used for filtering variants
Myocardial infarction (MI) is a major manifestation of coronary heart disease that causes cardiac... more Myocardial infarction (MI) is a major manifestation of coronary heart disease that causes cardiac tissue necrosis, myocardial inflammation, pathological remodeling and dysfunction of the left ventricle. It is thus very critical to diagnose myocardial infarction in chest pain patients as soon as possible. The golden standard for diagnosing acute myocardial infarction is still cardiac troponin I (cTnI) which is not a very sensitive or specific assay. Therefore, detecting specific and accurate biomarkers at early stage is a necessity for optimal diagnosis, prognosis, prevention and treatment. miRNAs have proved to be good biomarkers in MI, in this review we will focus on four miRNAs (miRNA-133,-208,-1,and -499) that are intensively studied as biomarkers in AMI patients. Most studies have revealed that these micro-RNAs show low or no expression levels in the plasma of healthy individuals, while they are released into peripheral circulation in time dependent manner in AMI patients. This ...
Sustainability
In this study, we empirically investigate whether and to what extent corporate social responsibil... more In this study, we empirically investigate whether and to what extent corporate social responsibility (CSR) may affect firm liquidity risk. We define liquidity risk as the covariance between market-wide liquidity shocks and individual firms’ stock returns and employ two methods to estimate firm liquidity risk. We find a negative association between CSR and firm liquidity risk after controlling for various firm characteristics, i.e., year and industry fixed effects. Our results are robust to possible endogeneity issues when we adopt two-stage lease square estimator and dynamic GMM estimator. In addition, we document that the negative relation between CSR and firm liquidity risk is more pronounced when firms have higher reliance on external financing.
Background Hearing loss (HL) represents the most common congenital sensory impairment with an inc... more Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we report a multifactorial genetic mode of inheritance in a NSHL consanguineous family using exome sequencing technology. We evaluated the possible effects of the single nucleotide variants (SNVs) detected in our patients using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel p. Pro338Leu missense mutation on the MITF protein was predicted to change the protein structure and function. Conclusion The novel MITF variant is the first bi...
Pediatric Cardiology
The original version of this article unfortunately contained a mistake in the author name. The fi... more The original version of this article unfortunately contained a mistake in the author name. The first author name should be Manal Fardoun instead of Manal Fardon. The original article has been corrected.
Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognos... more Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knockout mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1 2/2 mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.
DNA and Cell Biology, 2013
Frontiers in genetics, 2017
Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to... more Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous Lebanese family with 7 conceived children: 2 died in utero of unknown causes, 3 have CHD, and 4 have polydactyly. The aim of the study is to unveil the genetic variant(s) causing these phenotypes using next generation sequencing (NGS) technology. Targeted exome sequencing identified a heterozygous duplication in CSRP1 which leads to a potential frameshift mutation at position 154 of the protein. This mutation is inherited from the father, and segregates only with the CHD phenotype. The in vitro characterization demonstrates that the mutation dramatically abrogates its transcriptional activity over cardiac promoters like NPPA. In addition, it differentially inhibits the physical association of CSRP1 with SRF, GATA4, and with the newly described partner herein TBX5. Who...
Frontiers in Genetics
Genetically inherited defects in lipoprotein metabolism affect more than 10 million individuals a... more Genetically inherited defects in lipoprotein metabolism affect more than 10 million individuals around the globe with preponderance in some parts where consanguinity played a major role in establishing founder mutations. Mutations in four genes have been so far linked to the dominant and recessive form of the disease. Those players encode major proteins implicated in cholesterol regulation, namely, the low-density lipoprotein receptor (LDLR) and its associate protein 1 (LDLRAP1), the proprotein convertase substilin/kexin type 9 (PCSK9), and the apolipoprotein B (APOB). Single mutations or compound mutations in one of these genes are enough to account for a spectrum of mild to severe phenotypes. However, recently several reports have identified digenic mutations in familial cases that do not necessarily reflect a much severe phenotype. Yet, data in the literature supporting this notion are still lacking. Herein, we review all the reported cases of digenic mutations focusing on the bi...
Ever since the World Health Organization (WHO) declared the new coronavirus disease 2019 (COVID-1... more Ever since the World Health Organization (WHO) declared the new coronavirus disease 2019 (COVID-19) as a pandemic, there has been a public health debate concerning medical resources and supplies including hospital beds, intensive care units (ICU), ventilators, and Protective Personal Equipment (PPE). Forecasting COVID-19 dissemination has played a key role in informing healthcare professionals and governments on how to manage overburdened healthcare systems. However, forecasting during the pandemic remained challenging and sometimes highly controversial. Here, we highlight this challenge by performing a comparative evaluation for the estimations obtained from three COVID-19 surge calculators under different social distancing approaches, taking Lebanon as a case study. Despite discrepancies in estimations, the three surge calculators used herein agree that there will be a relative shortage in the capacity of medical resources and a significant surge in PPE demand as the social distan...
The new pandemic coronavirus disease 2019 (COVID-19) is a worldwide threatening health issue. Ear... more The new pandemic coronavirus disease 2019 (COVID-19) is a worldwide threatening health issue. Early progression of this disease starts in the lung airways with an exaggerated inflammation, triggered by the viral infection and characterized by a “cytokine storm” that can lead to lethal lung injuries. In the absence of an effective anti-viral molecule and until the formulation of a successful vaccine, anti-inflammatory drugs might offer a complementary tool for controlling the associated complications and thus decreasing the subsequent fatalities. Drug repurposing for several molecules has emerged as a rapid temporary solution for COVID-19. Among these drugs, Thalidomide, a historically emblematic controversial molecule that harbors an FDA approval for treating Erythema Nodosum Leprosum (ENL) and multiple myeloma (MM). Based on only one-case report of positive outcomes in a patient treated amongst others with Thalidomide, two clinical trials on the efficacy and safety of Thalidomide i...
Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognos... more Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knock-out mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1 2/2 mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.
Additional file 1: Table S1. List of hearing loss genes used for filtering variants
Myocardial infarction (MI) is a major manifestation of coronary heart disease that causes cardiac... more Myocardial infarction (MI) is a major manifestation of coronary heart disease that causes cardiac tissue necrosis, myocardial inflammation, pathological remodeling and dysfunction of the left ventricle. It is thus very critical to diagnose myocardial infarction in chest pain patients as soon as possible. The golden standard for diagnosing acute myocardial infarction is still cardiac troponin I (cTnI) which is not a very sensitive or specific assay. Therefore, detecting specific and accurate biomarkers at early stage is a necessity for optimal diagnosis, prognosis, prevention and treatment. miRNAs have proved to be good biomarkers in MI, in this review we will focus on four miRNAs (miRNA-133,-208,-1,and -499) that are intensively studied as biomarkers in AMI patients. Most studies have revealed that these micro-RNAs show low or no expression levels in the plasma of healthy individuals, while they are released into peripheral circulation in time dependent manner in AMI patients. This ...
Sustainability
In this study, we empirically investigate whether and to what extent corporate social responsibil... more In this study, we empirically investigate whether and to what extent corporate social responsibility (CSR) may affect firm liquidity risk. We define liquidity risk as the covariance between market-wide liquidity shocks and individual firms’ stock returns and employ two methods to estimate firm liquidity risk. We find a negative association between CSR and firm liquidity risk after controlling for various firm characteristics, i.e., year and industry fixed effects. Our results are robust to possible endogeneity issues when we adopt two-stage lease square estimator and dynamic GMM estimator. In addition, we document that the negative relation between CSR and firm liquidity risk is more pronounced when firms have higher reliance on external financing.
Background Hearing loss (HL) represents the most common congenital sensory impairment with an inc... more Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we report a multifactorial genetic mode of inheritance in a NSHL consanguineous family using exome sequencing technology. We evaluated the possible effects of the single nucleotide variants (SNVs) detected in our patients using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel p. Pro338Leu missense mutation on the MITF protein was predicted to change the protein structure and function. Conclusion The novel MITF variant is the first bi...
Pediatric Cardiology
The original version of this article unfortunately contained a mistake in the author name. The fi... more The original version of this article unfortunately contained a mistake in the author name. The first author name should be Manal Fardoun instead of Manal Fardon. The original article has been corrected.
Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognos... more Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knockout mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1 2/2 mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.
DNA and Cell Biology, 2013
Frontiers in genetics, 2017
Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to... more Despite an obvious role for consanguinity in congenital heart disease (CHD), most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous Lebanese family with 7 conceived children: 2 died in utero of unknown causes, 3 have CHD, and 4 have polydactyly. The aim of the study is to unveil the genetic variant(s) causing these phenotypes using next generation sequencing (NGS) technology. Targeted exome sequencing identified a heterozygous duplication in CSRP1 which leads to a potential frameshift mutation at position 154 of the protein. This mutation is inherited from the father, and segregates only with the CHD phenotype. The in vitro characterization demonstrates that the mutation dramatically abrogates its transcriptional activity over cardiac promoters like NPPA. In addition, it differentially inhibits the physical association of CSRP1 with SRF, GATA4, and with the newly described partner herein TBX5. Who...
Frontiers in Genetics
Genetically inherited defects in lipoprotein metabolism affect more than 10 million individuals a... more Genetically inherited defects in lipoprotein metabolism affect more than 10 million individuals around the globe with preponderance in some parts where consanguinity played a major role in establishing founder mutations. Mutations in four genes have been so far linked to the dominant and recessive form of the disease. Those players encode major proteins implicated in cholesterol regulation, namely, the low-density lipoprotein receptor (LDLR) and its associate protein 1 (LDLRAP1), the proprotein convertase substilin/kexin type 9 (PCSK9), and the apolipoprotein B (APOB). Single mutations or compound mutations in one of these genes are enough to account for a spectrum of mild to severe phenotypes. However, recently several reports have identified digenic mutations in familial cases that do not necessarily reflect a much severe phenotype. Yet, data in the literature supporting this notion are still lacking. Herein, we review all the reported cases of digenic mutations focusing on the bi...
Ever since the World Health Organization (WHO) declared the new coronavirus disease 2019 (COVID-1... more Ever since the World Health Organization (WHO) declared the new coronavirus disease 2019 (COVID-19) as a pandemic, there has been a public health debate concerning medical resources and supplies including hospital beds, intensive care units (ICU), ventilators, and Protective Personal Equipment (PPE). Forecasting COVID-19 dissemination has played a key role in informing healthcare professionals and governments on how to manage overburdened healthcare systems. However, forecasting during the pandemic remained challenging and sometimes highly controversial. Here, we highlight this challenge by performing a comparative evaluation for the estimations obtained from three COVID-19 surge calculators under different social distancing approaches, taking Lebanon as a case study. Despite discrepancies in estimations, the three surge calculators used herein agree that there will be a relative shortage in the capacity of medical resources and a significant surge in PPE demand as the social distan...
The new pandemic coronavirus disease 2019 (COVID-19) is a worldwide threatening health issue. Ear... more The new pandemic coronavirus disease 2019 (COVID-19) is a worldwide threatening health issue. Early progression of this disease starts in the lung airways with an exaggerated inflammation, triggered by the viral infection and characterized by a “cytokine storm” that can lead to lethal lung injuries. In the absence of an effective anti-viral molecule and until the formulation of a successful vaccine, anti-inflammatory drugs might offer a complementary tool for controlling the associated complications and thus decreasing the subsequent fatalities. Drug repurposing for several molecules has emerged as a rapid temporary solution for COVID-19. Among these drugs, Thalidomide, a historically emblematic controversial molecule that harbors an FDA approval for treating Erythema Nodosum Leprosum (ENL) and multiple myeloma (MM). Based on only one-case report of positive outcomes in a patient treated amongst others with Thalidomide, two clinical trials on the efficacy and safety of Thalidomide i...
Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognos... more Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knock-out mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1 2/2 mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.