Results 1 to 10 of about 186,243 (242)
Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report [PDF]
Neonatal Medicine, 2022 Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or ...
Woo Kyung Kim +6 more
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The complete sequence of a human Y chromosome
bioRxiv, 2023 The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications^ 1 – 3 .
A. Rhie +86 more
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The complete diploid reference genome of RPE-1 identifies human phased epigenetic landscapes
bioRxiv, 2023 Comparative analysis of recent human genome assemblies highlights profound sequence divergence that peaks within polymorphic loci such as centromeres. This raises the question about the adequacy of relying on human reference genomes to accurately analyze
Emilia Volpe +10 more
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No evidence for a second evolutionary stratum during the early evolution of mammalian sex chromosomes. [PDF]
PLoS ONE, 2012 Mammalian sex chromosomes originated from a pair of autosomes, and homologous genes on the sex chromosomes (gametologs) differentiated through recombination arrest between the chromosomes.
Yukako Katsura, Yoko Satta
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Microbial Cell Factories, 2023 Background Komagataella phaffii (Pichia pastoris) is a methylotrophic commercially important non-conventional species of yeast that grows in a fermentor to exceptionally high densities on simple media and secretes recombinant proteins efficiently ...
Dariusz Abramczyk +7 more
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Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics
Frontiers in Synaptic Neuroscience, 2020 Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results in social-communication impairments, as well as restricted and repetitive behaviors. Moreover, ASD is more prevalent in males, with a male to female ratio of 4 to 1.
Thien A. Nguyen +3 more
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A Historical-Genetic Reconstruction of Human Extra-Pair Paternity.
Current Biology, 2019 Paternity testing using genetic markers has shown that extra-pair paternity (EPP) is common in many pair-bonded species [1, 2]. Evolutionary theory and empirical data show that extra-pair copulations can increase the fitness of males as well as females ...
M. Larmuseau +9 more
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Clonal dynamics of haematopoiesis across the human lifespan
Nature, 2021 Age-related change in human haematopoiesis causes reduced regenerative capacity1, cytopenias2, immune dysfunction3 and increased risk of blood cancer4–6, but the reason for such abrupt functional decline after 70 years of age remains unclear.
E. Mitchell +28 more
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Comparative Cytogenetics, 2016 Scadoxus multiflorus Martyn, 1795 is an ornamental plant with brilliantly colored flowers. Even though its chromosomes are rather large, there is no karyotype description reported so far.
Pansa Monkheang +3 more
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Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes
Nature, 2012 The human X and Y chromosomes evolved from an ordinary pair of autosomes during the past 200–300 million years. The human MSY (male-specific region of Y chromosome) retains only three percent of the ancestral autosomes’ genes owing to genetic decay. This
Jennifer F. Hughes +26 more
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