Search Results - "Chandak, G. R"
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Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population
Published in Diabetologia (01-01-2007)“…India has the greatest number of diabetic subjects in any one country, but the genetic basis of type 2 diabetes mellitus in India is poorly understood. Common…”
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2
Common polymorphism near the MC4R gene is associated with type 2 diabetes: data from a meta-analysis of 123,373 individuals
Published in Diabetologia (01-10-2012)“…Aims/hypothesis Genome-wide association studies have shown that variants near the melanocortin 4 receptor gene ( MC4R ) (rs17782313 and rs12970134) are…”
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3
FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians
Published in Diabetologia (01-02-2009)“…Aims and hypothesis Variants of the FTO (fat mass and obesity associated) gene are associated with obesity and type 2 diabetes in white Europeans, but these…”
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4
Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis
Published in Gut (01-05-2004)“…Background and aims: Mutations in the cationic trypsinogen (protease, serine, 1 (trypsin 1); PRSS1) gene are causally associated with recurrent acute and…”
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5
Analysis of 32 common susceptibility genetic variants and their combined effect in predicting risk of Type 2 diabetes and related traits in Indians
Published in Diabetic medicine (01-01-2012)“…Diabet. Med. 29, 121–127 (2012) Aims Recent genome‐wide association studies have identified several Type 2 diabetes‐related loci. We investigated the effect…”
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6
Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs
Published in Diabetologia (01-02-2012)“…Aims/hypothesis Evaluation of the association of 31 common single nucleotide polymorphisms (SNPs) with fasting glucose, fasting insulin, HOMA-beta cell…”
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7
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis
Published in Journal of medical genetics (01-05-2002)“…A genetic basis was reported in 1996 by familial linkage analysis 3- 5 and confirmed by detection of missense mutations, namely R122H and N29I, in the cationic…”
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Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India
Published in World journal of gastroenterology : WJG (07-06-2007)“…To identify the frequency of iron overload and study the three mutations in the HFE gene (C282Y, H63D, and S65C) in patients with chronic liver disorders (CLD)…”
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Associations of FTO and MC4R Variants with Obesity Traits in Indians and the Role of Rural/Urban Environment as a Possible Effect Modifier
Published in Journal of Obesity (01-01-2011)“…Few studies have investigated the association between genetic variation and obesity traits in Indian populations or the role of environmental factors as…”
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10
Identification of urinary proteins potentially associated with diabetic kidney disease
Published in Indian journal of nephrology (01-11-2016)“…Diabetic nephropathy (DN) is the most common cause of chronic kidney disease. Although several parameters are used to evaluate renal damage, in many instances,…”
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11
Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity
Published in Mitochondrion (01-07-2020)“…•Different novel and reported nucleotide variations were reported in thiamine responsive Leigh syndrome patients.•Following different in-silico tests, 2…”
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Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01-05-2004)“…Heterogeneous mutations in factor IX (FIX) gene cause haemophilia B and a large number of mutations have been characterized. However, reports on gene defects…”
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13
Association of common variants in/near six genes (ATP2B1, CSK, MTHFR, CYP17A1, STK39 and FGF5) with blood pressure/hypertension risk in Chinese children
Published in Journal of human hypertension (01-01-2014)“…Recent genome-wide association studies have identified several single-nucleotide polymorphisms (SNPs) that are associated with blood pressure…”
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14
Mutations in anionic trypsinogen gene are not associated with tropical calcific pancreatitis
Published in Gut (01-05-2005)“…[...]we initially screened exons 2 and 3 of the anionic trypsinogen gene in 68 well characterised Indian patients with tropical calcific pancreatitis. 6…”
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15
Cardiac Beriberi: Often a Missed Diagnosis
Published in Journal of tropical pediatrics (1980) (01-08-2010)“…Thiamine deficiency leads to various manifestations due to dysfunction of nervous or cardiovascular system, commonly known as dry and wet beriberi,…”
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Lack of replication of association of THSD7A with obesity
Published in International Journal of Obesity (01-04-2016)Get full text
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Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis
Published in Gut (01-09-2006)“…Background and aims: Tropical calcific pancreatitis (TCP) is a type of chronic pancreatitis unique to countries in the tropics. Mutations in pancreatic…”
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18
Apolipoprotein E and Presenilin-1 Allelic Variation and Alzheimer's Disease in India
Published in Human biology (01-10-2002)“…As part of a larger epidemiological survey to study the prevalence of dementia in a suburb of Mumbai, Western India, we identified 78 cases with a Clinical…”
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Fetus-in-fetu: A case report with molecular analysis
Published in Journal of pediatric surgery (01-04-1999)“…This is the report of a case of fetus-in-fetu diagnosed in a 3-month-old boy and found to be located in the upper retroperitoneum. The entity was distinguished…”
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20
H63D mutation in HFE gene is common in Indians and is associated with the European haplotype
Published in Journal of genetics (01-08-2012)“…The common C282Y mutation (HFE gene) in hereditary hemochromatosis patients of European origin is absent in Indians. The frequency of the second common…”
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