Search Results - "Sudhakar, Digumarthi V. S."
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IL10 Variant g.5311A Is Associated with Visceral Leishmaniasis in Indian Population
Published in PloS one (05-05-2015)“…Visceral leishmaniasis (VL) is a multifactorial disease, where the host genetics play a significant role in determining the disease outcome. The immunological…”
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Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience
Published in Molecular genetics and genomics : MGG (01-12-2024)“…Preconception and prenatal genetic counseling is a well-established means of risk assessment in many parts of the world, and in recent years, an emerging…”
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Optimization of purification method and characterization of recombinant human Centrin-1
Published in Protein expression and purification (01-08-2016)“…Centrins are acidic proteins, present in all eukaryotes to perform imperative roles in centrosome positioning and segregation. Existing methods for the…”
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Conformational scanning of individual EF-hand motifs of calcium sensor protein centrin-1
Published in Biochemical and biophysical research communications (17-09-2021)“…Centrin-1, a Ca2+ sensor protein of the centrin family is a crucial player for cell division in eukaryotes and plays a key role in the microtubule organising…”
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TEX13B is essential for metabolic reprogramming during germ cell differentiation
Published in Human reproduction (Oxford) (13-05-2024)“…What is the functional significance of Tex13b in male germ cell development and differentiation? Tex13b regulates male germ cell differentiation by metabolic…”
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Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility
Published in Human molecular genetics (27-01-2023)“…Human spermatogenesis requires an orchestrated expression of numerous genes in various germ cell subtypes. Therefore, the genetic landscape of male infertility…”
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Genetics of male infertility - Present and future: A narrative review
Published in Journal of human reproductive sciences (01-07-2021)“…Infertility affects 8%-12% of couples worldwide with a male factor contributing to nearly 50% of couples either as a primary or contributing cause. Several…”
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Mutations in the prostate specific antigen (PSA/KLK3) correlate with male infertility
Published in Scientific reports (11-09-2017)“…Prostate specific antigen (PSA/KLK3) is known to be the chief executor of the fragmentation of semenogelins, dissolution of semen coagulum, thereby releasing…”
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Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation
Published in Journal of investigative dermatology (01-03-2017)“…Our understanding of the genetics of skin pigmentation has been largely skewed towards populations of European ancestry, imparting less attention to South…”
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Novel homozygous FAN1 mutation in a familial case of karyomegalic interstitial nephritis
Published in Indian journal of nephrology (01-07-2020)“…Karyomegalic interstitial nephritis (KIN) is a rare genetic kidney disease associated with a mutation in FAN1 gene and is often underdiagnosed. The…”
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IL10 Variant g.5311A Is Associated with Visceral Leishmaniasis in Indian Population: e0124559
Published in PloS one (01-05-2015)“…Background Visceral leishmaniasis (VL) is a multifactorial disease, where the host genetics play a significant role in determining the disease outcome. The…”
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Journal Article -
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Novel Homozygous FAN1 Mutation in a Familial Case of Karyomegalic Interstitial Nephritis
Published in Indian journal of nephrology (01-07-2020)Get full text
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