Search Results - "INDRAJIT NANDA"
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Dynamics of vertebrate sex chromosome evolution: from equal size to giants and dwarfs
Published in Chromosoma (01-06-2016)“…The Y and W chromosomes of mammals and birds are known to be small because most of their genetic content degenerated and were lost due to absence of…”
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2
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
Published in eLife (26-02-2020)“…The transport and Golgi organization 1 (TANGO1) proteins play pivotal roles in the secretory pathway. Full length TANGO1 is a transmembrane protein localised…”
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3
Genetics of Tinnitus: Still in its Infancy
Published in Frontiers in neuroscience (08-05-2017)“…Tinnitus is the perception of a phantom sound that affects between 10 and 15% of the general population. Despite this considerable prevalence, treatments for…”
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4
Epigenetic signatures of gestational diabetes mellitus on cord blood methylation
Published in Clinical epigenetics (27-03-2017)“…Intrauterine exposure to gestational diabetes mellitus (GDM) confers a lifelong increased risk for metabolic and other complex disorders to the offspring…”
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5
Genetic and epigenetic changes in clonal descendants of irradiated human fibroblasts
Published in Experimental cell research (15-09-2018)“…To study delayed genetic and epigenetic radiation effects, which may trigger radiation-induced carcinogenesis, we have established single-cell clones from…”
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6
A RAD-tag genetic map for the platyfish (Xiphophorus maculatus) reveals mechanisms of karyotype evolution among teleost fish
Published in Genetics (Austin) (01-06-2014)“…Mammalian genomes can vary substantially in haploid chromosome number even within a small taxon (e.g., 3-40 among deer alone); in contrast, teleost fish…”
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Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes
Published in Aging cell (01-10-2019)“…Werner Syndrome (WS) is an adult‐onset segmental progeroid syndrome. Bisulfite pyrosequencing of repetitive DNA families revealed comparable blood DNA…”
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8
Analysis of global DNA methylation changes in primary human fibroblasts in the early phase following X-ray irradiation
Published in PloS one (10-05-2017)“…Epigenetic alterations may contribute to the generation of cancer cells in a multi-step process of tumorigenesis following irradiation of normal body cells…”
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Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls
Published in International journal of molecular sciences (01-09-2023)“…Dystrophinopathies are the most common muscle diseases, especially in men. In women, on the other hand, a manifestation of Duchenne muscular dystrophy is rare…”
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10
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
Published in Genetics in medicine (01-12-2014)“…Purpose: Targeted next-generation sequencing provides a remarkable opportunity to identify variants in known disease genes, particularly in extremely…”
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11
Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing
Published in Molecular genetics & genomic medicine (01-10-2022)“…Background Dystrophinopathies caused by variants in the DMD gene are a well‐studied muscle disease. The most common type of variant in DMD are large deletions…”
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12
A Duplicated Copy of DMRT1 in the Sex-Determining Region of the Y Chromosome of the Medaka, Oryzias latipes
Published in Proceedings of the National Academy of Sciences - PNAS (03-09-2002)“…The genes that determine the development of the male or female sex are known in Caenorhabditis elegans, Drosophila, and most mammals. In many other organisms…”
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13
Confirmation of GRHL2 as the gene for the DFNA28 locus
Published in American journal of medical genetics. Part A (01-08-2013)“…More than 10 years ago, a c.1609_1610insC mutation in the grainyhead‐like 2 (GRHL2) gene was identified in a large family with nonsyndromic sensorineural…”
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14
Evolution of the Degenerated Y-Chromosome of the Swamp Guppy, Micropoecilia picta
Published in Cells (Basel, Switzerland) (25-03-2022)“…The conspicuous colour sexual dimorphism of guppies has made them paradigmatic study objects for sex-linked traits and sex chromosome evolution. Both the X-…”
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15
Genetic Characterization of Rat Hepatic Stellate Cell Line HSC-T6 for In Vitro Cell Line Authentication
Published in Cells (Basel, Switzerland) (29-05-2022)“…Immortalized hepatic stellate cells (HSCs) established from mouse, rat, and humans are valuable in vitro models for the biomedical investigation of liver…”
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16
Genomic organization of the sex-determining and adjacent regions of the sex chromosomes of medaka
Published in Genome Research (01-07-2006)“…Sequencing of the human Y chromosome has uncovered the peculiarities of the genomic organization of a heterogametic sex chromosome of old evolutionary age, and…”
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Genetic Characterization of Rat Hepatic Stellate Cell Line PAV-1
Published in Cells (Basel, Switzerland) (01-06-2023)“…The rat hepatic stellate cell line PAV-1 was established two decades ago and proposed as a cellular model to study aspects of hepatic retinoic acid metabolism…”
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18
Hereditary hearing loss SNP-microarray pilot study
Published in BMC research notes (14-06-2018)“…Despite recent advancements in diagnostic tools, the genomic landscape of hereditary hearing loss remains largely uncharacterized. One strategy to understand…”
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Rat Hepatic Stellate Cell Line CFSC-2G: Genetic Markers and Short Tandem Repeat Profile Useful for Cell Line Authentication
Published in Cells (Basel, Switzerland) (01-09-2022)“…Hepatic stellate cells (HSCs) are also known as lipocytes, fat-storing cells, perisinusoidal cells, or Ito cells. These liver-specific mesenchymal cells…”
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Roles of brca2 (fancd1) in oocyte nuclear architecture, gametogenesis, gonad tumors, and genome stability in zebrafish
Published in PLoS genetics (01-03-2011)“…Mild mutations in BRCA2 (FANCD1) cause Fanconi anemia (FA) when homozygous, while severe mutations cause common cancers including breast, ovarian, and prostate…”
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