Search Results - "Pranckeniene, Laura"

The relative fitness of the de novo variants in general Lithuanian population vs. in individuals with intellectual disability by Pranckėnienė, Laura, Kučinskas, Vaidutis

“…The effect of a variant on an organism is always multifaceted and can be considered from multiple perspectives-biochemical, medical, or evolutionary. However,…”
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Microevolutionary processes analysis in the Lithuanian genome by Pranckėnienė, Laura, Urnikytė, Alina, Kučinskas, Vaidutis

“…Differences in the relative fitness of genomic variants are foundational, without these, neither natural selection nor adaption can exist. This research…”
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Populations of Latvia and Lithuania in the context of some Indo-European and non-Indo-European speaking populations of Europe and India: insights from genetic structure analysis by Daniūtė, Gintė, Pranckėnienė, Laura, Pakerys, Jurgis, Kloviņš, Jānis, Kučinskas, Vaidutis, Urnikytė, Alina

“…The aim of this study was to investigate the relationship among Lithuanian, Latvian, Indian, and some other populations through a genome-wide data analysis of…”
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Insights Into de novo Mutation Variation in Lithuanian Exome by Pranckėnienė, Laura, Jakaitienė, Audronė, Ambrozaitytė, Laima, Kavaliauskienė, Ingrida, Kučinskas, Vaidutis

“…In the last decade, one of the biggest challenges in genomics research has been to distinguish definitive pathogenic variants from all likely pathogenic…”
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Disentangling archaic introgression and genomic signatures of selection at human immunity genes by Urnikyte, Alina, Masiulyte, Abigaile, Pranckeniene, Laura, Kučinskas, Vaidutis

“…Pathogens and infectious diseases have imposed exceptionally strong selective pressure on ancient and modern human genomes and contributed to the current…”
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De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome by Pranckėnienė, Laura, Siavrienė, Evelina, Gueneau, Lucie, Preikšaitienė, Eglė, Mikštienė, Violeta, Reymond, Alexandre, Kučinskas, Vaidutis

“…Background Coffin–Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic…”
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Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome by Pranckėnienė, Laura, Bumbulienė, Žana, Dasevičius, Darius, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

“…Androgen receptor (AR) mutations, which cause androgen insensitivity syndrome, impair the actions of 5α-dihydrotestosterone and testosterone, resulting in…”
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De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome by Pranckėnienė, Laura, Preikšaitienė, Eglė, Gueneau, Lucie, Reymond, Alexandre, Kučinskas, Vaidutis

“…CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in…”
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Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift by Urnikyte, Alina, Pranckeniene, Laura, Domarkiene, Ingrida, Dauengauer-Kirliene, Svetlana, Molyte, Alma, Matuleviciene, Ausra, Pilypiene, Ingrida, Kučinskas, Vaidutis

“…Most genetic variants are rare and specific to the population, highlighting the importance of characterizing local population genetic diversity. Many countries…”
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De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome by Pranckėnienė, Laura, Preikšaitienė, Eglė, Gueneau, Lucie, Reymond, Alexandre, Kučinskas, Vaidutis

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