Sampath Rangasamy

Publications

• Oxidative stress is independently associated with non-alcoholic fatty liver disease (NAFLD) in subjects with and without type 2 diabetes
• Incontinentia pigmenti (Bloch-Sulzberger syndrome).
• Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia
• From mice to humans: Cross-species transcriptomics analysis to uncover distinct mechanisms of Diabetic Retinopathy (DR)
• Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders
• Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
• Genotypes and Phenotypes: A Search for Influential Genes in Diabetic Retinopathy
• Do Genomic Factors Play a Role in Diabetic Retinopathy?
• Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex
• Transcriptomics analysis of pericytes from retinas of diabetic animals reveals novel genes and molecular pathways relevant to blood-retinal barrier alterations in diabetic retinopathy
• Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations
• A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
• Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders
• Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
• A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
• A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
• Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
• De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
• Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
• Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
• Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model.
• Phenotypic Variability and mTOR Pathway Gene Aberrations in Familial Tuberous Sclerosis
• Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.
• Pathological LSD1 mutations repress enhancer-mediated gene regulatory networks in early differentiation
• Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations
• eP329: Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy
• Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control
• Proteases in Diabetic Retinopathy
• A De Novo Mutation in TEAD1 Causes Non–X-Linked Aicardi Syndrome
• Epigenetics, autism spectrum, and neurodevelopmental disorders
• New treatments for diabetic retinopathy
• Chemokine mediated monocyte trafficking into the retina: role of inflammation in alteration of the blood-retinal barrier in diabetic retinopathy
• A potential role for angiopoietin 2 in the regulation of the blood-retinal barrier in diabetic retinopathy
• A common nonsynonymous single nucleotide polymorphism in the SLC30A8 gene determines ZnT8 autoantibody specificity in type 1 diabetes
• The role of monocyte subsets in myocutaneous revascularization
• Diabetic retinopathy and inflammation: novel therapeutic targets
• Molecular intricacies and the role of ER stress in diabetes
• Association of leukocyte count with varying degrees of glucose intolerance in Asian Indians: the Chennai Urban Rural Epidemiology Study (CURES-26)
• Pericyte-derived sphingosine 1-phosphate induces the expression of adhesion proteins and modulates the retinal endothelial cell barrier
• Advanced glycation index and its association with severity of diabetic retinopathy in type 2 diabetic subjects
• Diabetic Macular Edema: Pathophysiology and Novel Therapeutic Targets
• Exploring genome-wide DNA methylation patterns in Aicardi syndrome.
• Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.
• Association of increased levels of MCP-1 and cathepsin-D in young onset type 2 diabetes patients (T2DM-Y) with severity of diabetic retinopathy.
• A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
• Cellular and Animal Models of Neurologic Disease
• Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results
• De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
• A recurrent de novo missense mutation in UBTF causes developmental neuroregression
• Characterizing CSNK2A1 Mutant-Induced Morphological Phenotypes in Zebrafish (Danio rerio): Insights into Okur-Chung Neurodevelopmental Syndrome (OCNDS)
• Oxidative stress is independently associated with non-alcoholic fatty liver disease (NAFLD) in subjects with and without type 2 diabetes.
• Glutamine fructose-6-phosphate amidotransferase (GFAT) gene expression and activity in patients with type 2 diabetes: inter-relationships with hyperglycaemia and oxidative stress
• Association of hypoglutathionemia with reduced Na+/K+ ATPase activity in type 2 diabetes and microangiopathy
• A novel advanced glycation index and its association with diabetes and microangiopathy
• Increased glutathionylated hemoglobin (HbSSG) in type 2 diabetes subjects with microangiopathy
• A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome
• Is insulin signaling molecules misguided in diabetes for ubiquitin-proteasome mediated degradation
• Association of leukocyte count and hsCRP with metabolic abnormalities in subjects with normal glucose tolerance (CURES - 64)
• Is insulin signaling molecules misguided in diabetes for ubiquitin–proteasome mediated degradation?
• Curcumin-induced inhibition of cellular reactive oxygen species generation: novel therapeutic implications.