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IκBα controls dormancy in hematopoietic stem cells via retinoic acid during embryonic development
R Thambyrajah, M Maqueda, MZ Fadlullah… - Nature …, 2024 - nature.com
Recent findings suggest that Hematopoietic Stem Cells (HSC) and progenitors arise
simultaneously and independently of each other already in the embryonic aorta-gonad …
simultaneously and independently of each other already in the embryonic aorta-gonad …
Phenotypic spectrum of dual diagnoses in developmental disorders
AM Ridsdale, A Dickerson, VK Chundru… - The American Journal of …, 2024 - cell.com
As more patients receive genome-wide sequencing, the number of individuals diagnosed
with multiple monogenic conditions is increasing. We sought to investigate the relative …
with multiple monogenic conditions is increasing. We sought to investigate the relative …
Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis
Impaired proteostasis can induce protein aggregation which is toxic to neuronal cells,
contributing to neurodegeneration and other signs of aging. In this study, we delineate an …
contributing to neurodegeneration and other signs of aging. In this study, we delineate an …
Substantial role of rare inherited variation in individuals with developmental disorders
While the role of de novo and recessively-inherited coding variation in risk for rare
developmental disorders (DDs) has been well established, the contribution of damaging …
developmental disorders (DDs) has been well established, the contribution of damaging …
Genotypic and phenotypic consequences of domestication in dogs
Runs of homozygosity (ROH) are genomic regions that arise when two copies of identical
haplotypes are inherited from a shared common ancestor. In this study, we leverage ROH to …
haplotypes are inherited from a shared common ancestor. In this study, we leverage ROH to …