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 …

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 …

Loss of IVNS1ABP, a gigaxonin paralogue, leads to a progeroid neuropathy due to impaired proteostasis

C Bonnard, AN Ali, F Yuan, KY Tan, YT Lim, PW Chan… - medRxiv, 2024 - medrxiv.org
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 …

Substantial role of rare inherited variation in individuals with developmental disorders

KE Samocha, V Kartik Chundru, JM Fu, EJ Gardner… - medRxiv, 2024 - medrxiv.org
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 …

Genotypic and phenotypic consequences of domestication in dogs

Sweetalana, S Nataneli, S Huang, JA Mooney… - bioRxiv, 2024 - biorxiv.org
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 …