In silico experiment with an-antigen-toll like receptor-5 agonist fusion construct for immunogenic application to Helicobacter pylori
Discussion: In silico analysis showed that Pseudomonas flagellin is a suitable platform for incorporation of an antigenic construct from H. pylori. This strategy may be an effective tool for the control of H. pylori and other persistent infections. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Mohamad Ali HaghighiAshraf Mohabati MobarezAli Hatef SalmanianMohamad MoazeniMohamad Reza ZaliMehdi SadeghiJafar Amani Source Type: research
Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
Conclusion: Rapid FISH is a reliable and prompt method for detecting numerical chromosomal aberrations and has now been implemented as a routine diagnostic procedure for detection of fetal aneuploidy in India. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Ashish FauzdarMohit ChowdhryRN MakrooManoj MishraPriyanka SrivastavaRicha TyagiPreeti BhadauriaAnita Kaul Source Type: research
Association of apolipoprotein B XbaI gene polymorphism and lipid profile in northern Indian obese
Conclusions: Study reveals no considerable association of APOB XbaI gene polymorphism with obesity and lipid profile in north Indians. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Neena SrivastavaJai PrakashApurva SrivastavaChandra Gupta AgarwalDeep Chandra PantBalraj Mittal Source Type: research
Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis
This study aimed to assess COX5B and COX2 genes expression in MS patients and compare it with normal subjects. We determine expression levels of genes COX5B and COX2, and also gene reference ß-actine using real-time polymerase chain reaction (RT-PCR) method. Data were obtained and obtained and standardized with the gene reference and were analyzed using independent sample t-test with SPSS and Excel programs.
Result and Discussion: The resultshowed COX5B gene expression reduced signifi cant in MS patients compared to normal subjects (P < -0.05) whereas, there was no significant difference in the COX2 gene ex...
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Naeimeh SafavizadehSeyed Ali RahmaniMohamad Zaefizadeh Source Type: research
Rapid detection of chromosome X, Y, 13, 18, and 21 aneuploidies by primed in situ labeling/synthesis technique
Conclusion: PRINS seems to be a rapid and reliable method to detect common chromosome aneuploidy in peripheral blood lymphocyte metaphase and interphase cells. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Ashutosh HalderManish JainIsha Chaudhary Source Type: research
Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases
Conclusion: The intronic region polymorphism may have a role in intron splicing whereas the polymorphism in exon 10 results in amino acid change (Val to Gly). These polymorphisms are disease associated as these are found in CdLS patients only and not in controls. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Shailesh BajajSuvidya RanadePrakash Gambhir Source Type: research
Delivery systems for gene therapy
Shrikant MaliIndian Journal of Human Genetics 2013 19(1):3-8The structure of DNA was unraveled by Watson and Crick in 1953, and two decades later Arber, Nathans and Smith discovered DNA restriction enzymes, which led to the rapid growth in the field of recombinant DNA technology. From expressing cloned genes in bacteria to expressing foreign DNA in transgenic animals, DNA is now slated to be used as a therapeutic agent to replace defective genes in patients suffering from genetic disorders or to kill tumor cells in cancer patients. Gene therapy provides modern medicine with new perspectives that were unthinkable two decade...
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: Shrikant Mali Source Type: research
Prenatal diagnosis of common fetal aneuploidies: Scenario in India
V Baburao, Ajit C GorakshakarIndian Journal of Human Genetics 2013 19(1):1-2 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - June 4, 2013 Category: Genetics & Stem Cells Authors: V BaburaoAjit C Gorakshakar Source Type: research
Chronic pancreatitis: A new pathophysiology
Shweta Singh, Ravindra Kumar, Gourdas Choudhuri, Sarita AgarwalIndian Journal of Human Genetics 2012 18(3):380-382 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Shweta SinghRavindra KumarGourdas ChoudhuriSarita Agarwal Source Type: research
Octaploidy in idiopathic thrombocytopenia purpura: Is it incidental or causal?
Shantashri Vaidya, Babu Rao VundintiIndian Journal of Human Genetics 2012 18(3):379-379 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Shantashri VaidyaBabu Rao Vundinti Source Type: research
Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals
Pulak R Mahato, Shashi B PandeyIndian Journal of Human Genetics 2012 18(3):376-378Orofaciodigital syndrome type-VI (Varadi-Papp Syndrome) is a rare autosomal recessive disorder characterized by variable orofacial anomalies, central polydactyly of the hands, and cerebellar dysgenesis (mainly hypoplasia or aplasia of vermis, rarely Dandy-Waker anomaly). Here a case of Varadi-Papp syndrome with recurrent episodic tachypnea-apnea, minimal orofacial features, several Y-shaped metacarpals, and cerebellar vermis hypoplasia, diagnosed in the neonatal age, is reported for the first time in Indian literature. The importance of early...
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Pulak R MahatoShashi B Pandey Source Type: research
Seven nipples in a male: World's second case report
We present a case of seven nipples in a 32-year-old male patient. The patient had two regular nipples along with five supernumerary nipples. Usually, supernumerary nipples develop along the two vertical "milk lines" which start in the arm pit on each side, run down through the typical nipples, and end at the groin. Our patient had six nipples which confirm to the "milk lines" and one nipple which was above the umbilicus in the midline and did not confirm to the "milk lines." To our knowledge, this is the second case report with seven nipples in the world. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Tarang GoyalSK BakshiAnupam Varshney Source Type: research
A novel 11;18 translocation in a case of acute myeloid leukemia with maturation
G Sandhya Devi, Faiq Ahmed, Kavita Khadke, Sudha S Murthy, Senthil J RajappaIndian Journal of Human Genetics 2012 18(3):369-372Acute myeloid leukemia with maturation (AML-M2) is associated with the 8;21 translocation. For the first time in an adult patient with AML-M2, a novel unbalanced translocation involving the short arm of chromosome 11 and long arm of chromosome18 with new breakpoints is presented. CD82 on band 11p11.2 and GATA 6 on 18q11.2 may play a role in the pathogenesis of de novo AML M2. The report with translocation (11;18)(p11.2;q11.2), as the sole cytogenetic abnormality provides more data on the leukemogen...
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: G Sandhya DeviFaiq AhmedKavita KhadkeSudha S MurthySenthil J Rajappa Source Type: research
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome
Thirunavukkarasu Arun Babu, Venkatesh Chandrasekaran, Sathish BalachandranIndian Journal of Human Genetics 2012 18(3):366-368A 14-month-old boy with overlapping features of Townes-Brocks syndrome (TBS) and single median maxillary incisor syndrome (SMMCIS) is being reported with brief review of the above syndromes and possible differential diagnosis. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Thirunavukkarasu Arun BabuVenkatesh ChandrasekaranSathish Balachandran Source Type: research
Renal amyloidosis due to familial Mediterranean fever misdiagnosed
We report here the cases of two unrelated patients, who have been late diagnosed with FMF complicated by renal amyloidosis. We focus on the importance of early diagnosis of FMF, both to start rapidly treatment with colchicine and avoid renal amyloidosis, and to provide genetic counseling to families. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - March 4, 2013 Category: Genetics & Stem Cells Authors: Iman HamaRatbi IlhamNaima OuzeddounZaitouna AlhamanyRadia BayahiaAbdelaziz Sefiani Source Type: research
