A comprehensive analysis of breakpoint cluster region-abelson fusion oncogene splice variants in chronic myeloid leukemia and their correlation with disease biology
Conclusion: Our RT-PCR was proved to be very quick to detect BCR-ABL fusion oncogene in CML patients within one working day. Because of its sensitivity, it can be used to monitor complete molecular response in CML. BCR-ABL RT-PCR and BCR-ABL splice variants frequency in our study differs from other ethnic groups. It shows that ethnic and geographical differences exist in BCR-ABL splice variant frequency, which may have a profound effect on disease biology as well as implications in prognosis and clinical management of BCR-ABL positive leukemias. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Zafar Iqbal Source Type: research
Association of single nucleotide polymorphisms of CACNA1A gene in migraine
Conclusion: In our study, we could not find any polymorphism of CACNA1A gene in the selected patients. Instead the wild type of genotype was found in both patients and controls. This negative result presented here, implies that if the CACNA1A gene is involved in typical migraine (with and without aura), its contribution is very modest and therefore difficult to discern. Nevertheless, there are other genes that could be considered potential candidates for typical migraine susceptibility for which further research is needed. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Aadil BashirShiekh SaleemMaqbool WaniRoohi RasoolIrfan Yousuf WaniAzhara GulnarSawan Verma Source Type: research
Paraoxonase1, its Q192R polymorphism and HDL-cholesterol in relation to intensive cardiac care unit stay in ischemic heart disease
Conclusions: The current study demonstrates that the activity of the PON1 enzyme may be more important factor than the PON1 Q192R polymorphism in the severity and extent of CAD. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Mahesh Harishchandra HampeMukund Ramchandra Mogarekar Source Type: research
Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt
The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A).
Subjects And Methods: Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analy...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Mohammad S. Al-HaggarSohier YahiaDina Abdel-HadyAfaf Al-SaiedRasha Al-KenawyRabab Abo-El-Kasem Source Type: research
Association study of the ABCC8 gene variants with type 2 diabetes in south Indians
Conclusion: The -3c → t and the Thr759Thr polymorphisms of the ABCC8 gene were not associated with type 2 diabetes in this study. However, an effect of these genetic variants on specific unidentified sub groups of type 2 diabetes cannot be excluded. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Radha VenkatesanDhanasekaran BodhiniNagarajan NarayaniViswanathan Mohan Source Type: research
Pattern of chromosome involvement in childhood hyperdiploid pre-B-cell acute lymhoblastic leukemia cases from India
Conclusion: In this study, the pattern of chromosome involvement in hyperdiploid karyotype of ALL patients is same as other studies except some chromosomes like 1, 6, 11, 12, 19 and 22 have some more frequent involvement than other studies. This study also showed the occurrence of TEL/AML1 fusion is more (19.8%) than other reports from India. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Lily S. KerkettaVundinti BaburaoKanjaksha Ghosh Source Type: research
Neurotransmitters in alcoholism: A review of neurobiological and genetic studies
Niladri BanerjeeIndian Journal of Human Genetics 2014 20(1):20-31Recent advances in the study of alcoholism have thrown light on the involvement of various neurotransmitters in the phenomenon of alcohol addiction. Various neurotransmitters have been implicated in alcohol addiction due to their imbalance in the brain, which could be either due to their excess activity or inhibition. This review paper aims to consolidate and to summarize some of the recent papers which have been published in this regard. The review paper will give an overview of the neurobiology of alcohol addiction, followed by detailed reviews of some of t...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Niladri Banerjee Source Type: research
Reactive metabolites and antioxidant gene polymorphisms in type 2 diabetes mellitus
Monisha Banerjee, Pushpank VatsIndian Journal of Human Genetics 2014 20(1):10-19Type 2 diabetes mellitus (T2DM), by definition is a heterogeneous, multifactorial, polygenic syndrome which results from insulin receptor (IR) dysfunction. It is an outcome of oxidative stress caused by interactions of reactive metabolites (RMs) with lipids, proteins and other molecules of the human body. Production of RMs mainly superoxides (·O2− ) has been found in a variety of predominating cellular enzyme systems including nicotinamide adenine dinucleotide phosphate oxidase, xanthine oxidase, cyclooxygenase, endothelial ...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Monisha BanerjeePushpank Vats Source Type: research
Genes and oral cancer
Sunit Kumar Jurel, Durga Shanker Gupta, Raghuwar D. Singh, Mrinalini Singh, Shilpi SrivastavaIndian Journal of Human Genetics 2014 20(1):4-9Oral cancers have been one of the leading causes of deaths particularly in the developing countries. Prime reason for this high mortality and morbidity is attributed to the delay in diagnosis and prompt treatment. Relentless research in the field of oncology has led to the advent of novel procedures for the early detection of oral cancers. Molecular biology is highly promising in this regard. It is a procedure that detects alterations at a molecular level much before they are seen unde...
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Sunit Kumar JurelDurga Shanker GuptaRaghuwar D. SinghMrinalini SinghShilpi Srivastava Source Type: research
Familial Mediterranean fever: An unusual disease enlightening the inflammation biology
Kanjaksha GhoshIndian Journal of Human Genetics 2014 20(1):1-3 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - May 19, 2014 Category: Genetics & Stem Cells Authors: Kanjaksha Ghosh Source Type: research
Deoxyribonucleic acid profiling in forensic dental identification
Thorakkal ShamimIndian Journal of Human Genetics 2013 19(4):513-513 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Thorakkal Shamim Source Type: research
Influenza A H1N1 hemagglutinin and human axon guidance proteins: Peptide sharing but not same epitopes
Somsri Wiwanitkit, Viroj WiwanitkitIndian Journal of Human Genetics 2013 19(4):512-512 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Somsri WiwanitkitViroj Wiwanitkit Source Type: research
Deoxyribonucleic acid repair gene X-ray repair cross-complementing group 1 polymorphisms and non-carcinogenic disease risk in different populations: A meta-analysis
Conclusion: The present meta-analysis correspondingly shows that Arg399Gln variant to be associated with increased non-carcinogenic diseases risk through dominant and recessive modes among Iranian and Turkish population. It also suggests a trend of dominant and recessive effect of Arg280His variant in all population and its possible protective effect on non-carcinogenic diseases. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Bagher LarijaniJavad Mohammadi AslAbbas KeshtkarNajmaldin SakiFatemeh Ardeshir LarijaniFakher Rahim Source Type: research
A case report of ectopia cordis and omphalocele
Amar M Taksande, Krishna Y VilhekarIndian Journal of Human Genetics 2013 19(4):491-493A rare congenital defect in fusion of the anterior chest wall resulting in an extrathoracic location of the heart. Cantrell's pentalogy is a congenital anomaly resulting from embryologic development defect and consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Here we report a rare case of ectopic cordis with omphalocele. (Source: Indian Jou...
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Amar M TaksandeKrishna Y Vilhekar Source Type: research
Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India
We report a case of DUH in a south Indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Hari Kishan Kumar YadallaSrivalli PinnintiAnagha Ramesh Babu Source Type: research
