Sorting sox: Diverse roles for sox transcription factors during neural crest and craniofacial development

EN Schock, C LaBonne - Frontiers in physiology, 2020 - frontiersin.org
Sox transcription factors play many diverse roles during development, including regulating
stem cell states, directing differentiation, and influencing the local chromatin landscape. Of …

Genome-wide CRISPR activation screening in senescent cells reveals SOX5 as a driver and therapeutic target of rejuvenation

Y Jing, X Jiang, Q Ji, Z Wu, W Wang, Z Liu… - Cell Stem Cell, 2023 - cell.com
Our understanding of the molecular basis for cellular senescence remains incomplete,
limiting the development of strategies to ameliorate age-related pathologies by preventing …

Transcription factors in neurodevelopmental and associated psychiatric disorders: A potential convergence for genetic and environmental risk factors

J Santos‐Terra, I Deckmann… - International Journal …, 2021 - Wiley Online Library
Neurodevelopmental disorders (NDDs) are a heterogeneous and highly prevalent group of
psychiatric conditions marked by impairments in the nervous system. Their onset occurs …

Action detection using a neural network elucidates the genetics of mouse grooming behavior

BQ Geuther, A Peer, H He, G Sabnis, VM Philip… - Elife, 2021 - elifesciences.org
Automated detection of complex animal behaviors remains a challenging problem in
neuroscience, particularly for behaviors that consist of disparate sequential motions …

Neuroprotective effects of SOX5 against ischemic stroke by regulating VEGF/PI3K/AKT pathway

W Zhang, Y Wu, H Chen, D Yu, J Zhao, J Chen - Gene, 2021 - Elsevier
Ischemic stroke is a common clinical cardiovascular disease and often accompanied by
central nervous system injury. It often causes paralysis or loss of motor function after central …

Lamb–Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency

J Tenorio‐Castano, ÁSA Gómez, M Coronado… - Clinical …, 2023 - Wiley Online Library
Abstract Lamb–Shaffer Syndrome (LSS; OMIM# 616803; ORPHA# 313892; ORPHA#
313884) is an infrequent genetic disorder that affects multiple aspects of human …

Shared genetic liability between major depressive disorder and osteoarthritis

F Zhang, S Rao, A Baranova - Bone & joint research, 2022 - boneandjoint.org.uk
Aims Deciphering the genetic relationships between major depressive disorder (MDD) and
osteoarthritis (OA) may facilitate an understanding of their biological mechanisms, as well as …

De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas

D Tolchin, JP Yeager, P Prasad, N Dorrani… - The American Journal of …, 2020 - cell.com
SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode
transcription factors controlling cell fate and differentiation in many developmental and adult …

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program

KE Bonini, A Thomas‐Wilson, PN Marathe… - Clinical …, 2023 - Wiley Online Library
Copy number variations (CNVs) play a significant role in human disease. While
chromosomal microarray has traditionally been the first‐tier test for CNV detection, use of …

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

G Innella, D Greco, D Carli, P Magini, E Giorgio… - American journal of …, 2021 - iris.unito.it
Lamb–Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder caused by
heterozygous loss of function genetic alterations in SOX5, which result in haploinsufficiency …