Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
about
Sperm competition and the evolution of spermatogenesisNew insights into the generation and role of de novo mutations in health and diseaseMutation rates and the evolution of germline structureWhole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular diseasePLCζ disruption with complete fertilization failure in normozoospermia.The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in CancerEstimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing.B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention.Cellular evidence for selfish spermatogonial selection in aged human testes.Selective mutation accumulation: a computational model of the paternal age effect.Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.Polymerase ζ Activity Is Linked to Replication Timing in Humans: Evidence from Mutational Signatures.Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disordersGenomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in CostAn attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.Concurrent Nucleotide Substitution Mutations in the Human Genome Are Characterized by a Significantly Decreased Transition/Transversion RatioA New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate
P2860
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P2860
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年學術文章
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name
Contributions of intrinsic mut ...... ions in the paternal germline.
@en
Contributions of intrinsic mut ...... ions in the paternal germline.
@nl
type
label
Contributions of intrinsic mut ...... ions in the paternal germline.
@en
Contributions of intrinsic mut ...... ions in the paternal germline.
@nl
prefLabel
Contributions of intrinsic mut ...... ions in the paternal germline.
@en
Contributions of intrinsic mut ...... ions in the paternal germline.
@nl
P2093
P2860
P50
P356
P1476
Contributions of intrinsic mut ...... ions in the paternal germline.
@en
P2093
Aysha Itani
Bronwyn Kerr
David Buck
Emma M M Burkitt Wright
Geoffrey J Maher
Indira B Taylor
Jennifer Shorto
Karen Turner
Leendert H J Looijenga
Lorna Gregory
P2860
P304
20152-20157
P356
10.1073/PNAS.1311381110
P407
P50
P577
2013-11-20T00:00:00Z