Genetic polymorphisms of estrogen receptor alpha and catechol-O-methyltransferase genes in Turkish patients with familial prostate carcinoma
Conclusion: Polymorphisms of ESR1 gene in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Ayfer PazarbasiM Bertan YilmazDavut AlptekinUmit LuleyapZuhtu TansugLutfiye OzpakMuzeyyen IzmirliDilge Onatoglu-ArikanSabriye Kocaturk-SelMehmet Ali ErkocOzgur TurgutCeyhun BereketogluErdal TuncEylul Akbal Source Type: research
Protein tyrosine phosphatase non-receptor type 22 gene polymorphism C1858T is not associated with leprosy in Azerbaijan, Northwest Iran
Conclusions: The PTPN22 C1858T (R620W) is not relevant in susceptibility to leprosy in the Azeri population of Northwest Iran. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Mohammad Reza AliparastiShohreh AlmasiJafar MajidiFatemeh ZamaniAli Reza KhoramifarAli Reza Farshi Azari Source Type: research
Deoxyribonucleic acid damage study in primary amenorrhea by comet assay and karyotyping
Conclusion: Comet assay revealed increased DNA damage in cases with 45,X monosomy, compared with subjects with 46,XX and 46,XY karyotype, which correlated with clinical features. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Sarah RamamurthyParkash ChandLatha ChaturvedulaK Ramachandra Rao Source Type: research
Genetic variants in the cytochrome P450 2D6 gene in the Sri Lankan population
Conclusion: CYP2D6 *3, *4 and *10 variants, which are associated with reduced or loss of CYP2D6 enzyme function were found in our population in significant frequencies. CYP2D6*4, which is reported to be a Caucasian variant was also found in all three ethnic groups. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: T. D. Praveen TharangaC. M. V. JinadasaMF RisamaPriyadarshani GalappatthyRL JayakodyVajira H. W. Dissanayake Source Type: research
Epigenetics in the nervous system: An overview of its essential role
Bhavya Ravi, Manoj KannanIndian Journal of Human Genetics 2013 19(4):384-391The role that epigenetic mechanisms play in phenomena such as cellular differentiation during embryonic development, X chromosome inactivation, and cancers is well-characterized. Epigenetic mechanisms have been implicated to be the mediators of several functions in the nervous system such as in neuronal-glial differentiation, adult neurogenesis, the modulation of neural behavior and neural plasticity, and also in higher brain functions like cognition and memory. Its particular role in explaining the importance of early life/social experiences on ad...
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Bhavya RaviManoj Kannan Source Type: research
Innumerable studies on single nucleotide polymorphisms: What could be its utility?
K Ghosh, Ajit GorakshakarIndian Journal of Human Genetics 2013 19(4):381-383 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: K GhoshAjit Gorakshakar Source Type: research
Possible impact of factor V Leiden genotype on warfarin induced bleeding
Tejasvita Gaikwad, Kanjaksha Ghosh, Shrimati ShettyIndian Journal of Human Genetics 2013 19(3):377-378 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Tejasvita GaikwadKanjaksha GhoshShrimati Shetty Source Type: research
Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma
Pasupuleti Santhosh Kumar, Katari Venkatesh, Lokanathan Srikanth, Potukuchi Venkata Gurunadha Krishna Sarma, Akkamgari Ramprasad Reddy, Srinivasan Subramanian, Bobbidi Venkata PhaneendraIndian Journal of Human Genetics 2013 19(3):373-376Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumors, especially cerebellar hemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). We have identified of VHL gene using immunohistochemistry in a patient who was diagnosed for RCC. In order to understand the i...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Pasupuleti Santhosh KumarKatari VenkateshLokanathan SrikanthPotukuchi Venkata Gurunadha Krishna SarmaAkkamgari Ramprasad ReddySrinivasan SubramanianBobbidi Venkata Phaneendra Source Type: research
Genetic mutations in Gorlin-Goltz syndrome
This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Muthumula DaneswariMutjumula Swamy Ranga Reddy Source Type: research
A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis
Sassan Saber, Reza Vazifehmand, Iman Bagherizadeh, Mahbubeh KasiriIndian Journal of Human Genetics 2013 19(3):366-368Progressive familial intrahepatic cholestasis is an autosomal recessive liver disorder caused by (biallelic) mutations in the ATP8B1 of ABCB11 gene. A nine-year-old girl with cholestasis was referred for genetic counseling. She had a family history of cholestasis in two previous expired siblings. Genetic analysis of the ABCB11 gene led to the identification of a novel homozygous mutation in exon 25. The mutation 3593- A > G lead to a missense mutation at the amino acid level (His1198Arg). This mutation ca...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Sassan SaberReza VazifehmandIman BagherizadehMahbubeh Kasiri Source Type: research
Hypoparathyroidism-retardation-dysmorphism syndrome
We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Kalenahalli Jagadish KumarHalasahalli Chowdegowda Krishna KumarVadambal Gopalakrishna ManjunathSangaraju Mamatha Source Type: research
A case of primary amenorrhea with 46+XY genotype from Kashmir Valley
Shahid Mudassir Baba, Aga Syed Sameer, Mushtaq A SiddiqiIndian Journal of Human Genetics 2013 19(3):360-362Primary amenorrhea is one of the common reproductive disorder affecting females. It leads to the absence of menarche in the reproductive age group in females and/or complete absence of reproductive organs. There are many causes which lead to PA, including genetic aberrations which are the leading factors. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Shahid Mudassir BabaAga Syed SameerMushtaq A Siddiqi Source Type: research
Type 2 diabetes mellitus: An unusual association with Down's syndrome
Sunil Kumar Kota, Prabhas Ranjan Tripathy, Siva Krishna Kota, Sruti JammulaIndian Journal of Human Genetics 2013 19(3):358-359Down's syndrome (DS) is known to be associated with autoimmune disease including type 1 diabetes. To the best of our knowledge, there are no reports of DS with type 2 diabetes mellitus in the literature. We hereby report two cases of DS with type 2 diabetes. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Sunil Kumar KotaPrabhas Ranjan TripathySiva Krishna KotaSruti Jammula Source Type: research
Genetic analysis of a family with complete androgen insensitivity syndrome
Sunil Kumar Kota, Kotni Gayatri, Siva Krishna Kota, Sruti JammulaIndian Journal of Human Genetics 2013 19(3):355-357Androgen insensitivity causes impaired embryonic sex differentiation leading to developmental failure of normal male external genitalia in 46 XY genetic men. It results from diminished or absent biological actions of androgens, which is mediated by the androgen receptor (AR) in both the embryo and secondary sexual development. Mutations in the AR located on the X chromosome are responsible for the disease. Almost 70% of affected individuals inherit the mutation from their carrier mother. We hereby repo...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Sunil Kumar KotaKotni GayatriSiva Krishna KotaSruti Jammula Source Type: research
Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India
Ranjeet Singh Mashon, Sona Nair, Pratibha Sawant, Roshan B Colah, Kanjaksha Ghosh, Sheila DasIndian Journal of Human Genetics 2013 19(3):352-354Structural hemoglobin (Hb) variants are mainly due to point mutations in the globin genes resulting in single amino acid substitutions. Until date, about 200 alpha chain variants have been identified and they are usually detected during the hemoglobinopathy screening programs. Under a community control program for hemoglobinopathies, which involved screening of antenatal cases followed by prenatal diagnosis if indicated. Here, we report a rare alpha globin gene variant Hb Fontaineb...
Source: Indian Journal of Human Genetics - October 30, 2013 Category: Genetics & Stem Cells Authors: Ranjeet Singh MashonSona NairPratibha SawantRoshan B ColahKanjaksha GhoshSheila Das Source Type: research
