Comparison of predicted and actual consequences of missense mutations

LA Miosge, MA Field, Y Sontani… - Proceedings of the …, 2015 - National Acad Sciences
Each person’s genome sequence has thousands of missense variants. Practical interpretation
of their functional significance must rely on computational inferences in the absence of …

Up-regulation of LFA-1 allows liver-resident memory T cells to patrol and remain in the hepatic sinusoids

HA McNamara, Y Cai, MV Wagle, Y Sontani… - Science …, 2017 - science.org
Liver-resident CD8 + T cells are highly motile cells that patrol the vasculature and provide
protection against liver pathogens. A key question is: How can these liver CD8 + T cells be …

Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes

…, LA Miosge, H Bergmann, Y Sontani… - Proceedings of the …, 2014 - National Acad Sciences
IgD and IgM are produced by alternative splicing of long primary RNA transcripts from the Ig
heavy chain (Igh) locus and serve as the receptors for antigen on naïve mature B …

A cell autonomous role for the Notch ligand Delta‐like 3 in αβ T‐cell development

GF Hoyne, G Chapman, Y Sontani… - Immunology and cell …, 2011 - Wiley Online Library
Notch signalling is critical to help direct T‐cell lineage commitment in early T‐cell progenitors
and in the development of αβ T‐cells. Epithelial and stromal cell populations in the thymus …

Self-renewal of the long-term reconstituting subset of hematopoietic stem cells is regulated by Ikaros

…, JL Attema, H Karsunky, N Hosen, Y Sontani… - Stem Cells, 2009 - academic.oup.com
Hematopoietic stem cells (HSCs) are rare, ancestral cells that underlie the development,
homeostasis, aging, and regeneration of the blood. Here we show that the chromatin-…

Er81 transcription factor fine-tunes striatal cholinergic interneuron activity and drives habit formation

…, AS Al Abed, L Gao, Y Sontani… - Journal of …, 2021 - Soc Neuroscience
The molecular mechanisms tuning cholinergic interneuron (CIN) activity, although crucial
for striatal function and behavior, remain largely unexplored. Previous studies report that the …

SATB1 ensures appropriate transcriptional programs within naïve CD8+ T cells

…, A Barugahare, CM Roots, Y Sontani… - … and Cell Biology, 2022 - Wiley Online Library
Special AT‐binding protein 1 (SATB1) is a chromatin‐binding protein that has been shown to
be a key regulator of T‐cell development and CD4 + T‐cell fate decisions and function. The …

Systems-guided forward genetic screen reveals a critical role of the replication stress response protein ETAA1 in T cell clonal expansion

LA Miosge, Y Sontani, A Chuah… - Proceedings of the …, 2017 - National Acad Sciences
T-cell immunity requires extremely rapid clonal proliferation of rare, antigen-specific T
lymphocytes to form effector cells. Here we identify a critical role for ETAA1 in this process by …

Delayed control of herpes simplex virus infection and impaired CD4+ T‐cell migration to the skin in mouse models of DOCK8 deficiency

…, H Di Law, LA Miosge, Y Sontani… - Immunology and cell …, 2015 - Wiley Online Library
DOCK8 deficiency in humans and mice leads to multiple defects in immune cell numbers and
function. Patients with this immunodeficiency have a high morbidity and mortality, and are …

Parvalbumin Interneuron Activity in Autism Underlies Susceptibility to PTSD-like Memory Formation

AS Al Abed, TV Allen, NY Ahmed, A Sellami, Y Sontani… - iScience, 2024 - cell.com
A rising concern in Autism Spectrum Disorder (ASD) is the heightened sensitivity to trauma,
the potential consequences of which have been overlooked, particularly upon the severity of …