Associated Papers
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Dutta A et al.
Genes & Diseases, 2025
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N et al.
American Journal of Medical Genetics. Part A, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Distinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome ortholog mutants of Saccharomyces cerevisiae.
Kundnani DL et al.
Iscience, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Association between glaucoma susceptibility with combined defects in mitochondrial oxidative phosphorylation and fatty acid beta oxidation.
Ulhaq ZS et al.
Molecular Aspects of Medicine, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India.
Nair LS et al.
Pediatric Neurology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Distinct features of ribonucleotides within genomic DNA in Aicardi-Goutières syndrome (AGS)-ortholog mutants of Saccharomyces cerevisiae.
Kundnani DL et al.
Biorxiv : the Preprint Server for Biology, 2023
RNASEH2C c.194G>A is a Chinese-specific founder mutation in three unrelated patients with Aicardi-Goutières syndrome 3.
Wang Q et al.
Clinical Genetics, 2023
Construction and characterization of ribonuclease H2 C subunit-knockout NIH3T3 cells.
Hara H et al.
Bioscience, Biotechnology, and Biochemistry, 2023
Analysis of ribonucleotide content in the genomic DNA of ribonuclease H2 A subunit (RH2A)-knockout NIH3T3 cells after transient expression of wild-type RH2A or RH2A variants with an Aicardi-Goutières syndrome-causing mutation.
Kandabashi M et al.
Journal of Biochemistry, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan DL et al.
European Journal of Human Genetics : Ejhg, 2021
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Kaur P et al.
Clinical Genetics, 2021
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Silver G et al.
Genes, 2021
Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.
Boulanger C et al.
Rheumatology (oxford, England), 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series.
Worth C et al.
Clinical Case Reports, 2020
Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma.
Gowda VK et al.
Indian Journal of Pediatrics, 2020
Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
Parayil Sankaran B et al.
Journal of Child Neurology, 2020
Characterization of six recombinant human RNase H2 bearing Aicardi-Goutiéres syndrome causing mutations.
Nishimura T et al.
Journal of Biochemistry, 2019
Aicardi-Goutières syndrome gene Rnaseh2c is a metastasis susceptibility gene in breast cancer.
Deasy SK et al.
Plos Genetics, 2019
RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.
Benitez-Guijarro M et al.
The Embo Journal, 2018
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
Hebbar M et al.
American Journal of Medical Genetics. Part A, 2018
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
Kind B et al.
Human Molecular Genetics, 2014
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.
Vogt J et al.
American Journal of Medical Genetics. Part A, 2013
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease.
Reijns MA et al.
The Journal of Biological Chemistry, 2011
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Ramantani G et al.
Arthritis and Rheumatism, 2010
Ribonuclease H: the enzymes in eukaryotes.
Cerritelli SM et al.
The Febs Journal, 2009
Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
Chon H et al.
Nucleic Acids Research, 2009
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.
Perrino FW et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Effect of the disease-causing mutations identified in human ribonuclease (RNase) H2 on the activities and stabilities of yeast RNase H2 and archaeal RNase HII.
Rohman MS et al.
The Febs Journal, 2008
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G et al.
American Journal of Human Genetics, 2007
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Crow YJ et al.
Nature Genetics, 2006
Systemic complications of Aicardi Goutières syndrome using real-world data.
Peixoto de Barcelos I et al.
Molecular Genetics and Metabolism, 0