Evidence for 28 genetic disorders discovered by combining healthcare and research data
De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …
disorders. However, genes known to be associated with developmental disorders account …
[HTML][HTML] The diverse roles of TAO kinases in health and diseases
Thousand and one kinases (TAOKs) are members of the MAP kinase kinase kinase
(MAP3K) family. Three members of this subfamily, TAOK1, 2, and 3, have been identified in …
(MAP3K) family. Three members of this subfamily, TAOK1, 2, and 3, have been identified in …
[HTML][HTML] MAP3K family review and correlations with patient survival outcomes in various cancer types
K Nguyen, MN Tran, A Rivera, T Cheng… - Frontiers in Bioscience …, 2022 - imrpress.com
The mitogen-activated protein kinase (MAPK) pathways are ubiquitous in cellular signaling
and are essential for proper biological functions. Disruptions in this signaling axis can lead …
and are essential for proper biological functions. Disruptions in this signaling axis can lead …
[HTML][HTML] Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
AM Bertoli-Avella, KK Kandaswamy, S Khan… - Genetics in …, 2021 - Elsevier
Purpose Within this study, we aimed to discover novel gene–disease associations in
patients with no genetic diagnosis after exome/genome sequencing (ES/GS). Methods We …
patients with no genetic diagnosis after exome/genome sequencing (ES/GS). Methods We …
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
GM van Woerden, M Bos, C de Konink… - Human …, 2021 - Wiley Online Library
Thousand and one amino‐acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating
different mitogen‐activated protein kinase pathways, thereby modulating a multitude of …
different mitogen‐activated protein kinase pathways, thereby modulating a multitude of …
[HTML][HTML] The Importance of Drosophila melanogaster Research to UnCover Cellular Pathways Underlying Parkinson's Disease
Parkinson's disease (PD) is a complex neurodegenerative disorder that is currently
incurable. As a consequence of an incomplete understanding of the etiology of the disease …
incurable. As a consequence of an incomplete understanding of the etiology of the disease …
Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders
De novo mutations (DNMs) in protein-coding genes are a well-established cause of
developmental disorders (DD). However, known DD-associated genes only account for a …
developmental disorders (DD). However, known DD-associated genes only account for a …
A global phosphosite-correlated network map of Thousand And One Kinase 1 (TAOK1)
P Priyanka, AP Gopalakrishnan, M Nisar… - … International Journal of …, 2024 - Elsevier
Thousand and one amino acid kinase 1 (TAOK1) is a sterile 20 family Serine/Threonine
kinase linked to microtubule dynamics, checkpoint signaling, DNA damage response, and …
kinase linked to microtubule dynamics, checkpoint signaling, DNA damage response, and …
[HTML][HTML] Kinase signaling in dendritic development and disease
K Nourbakhsh, S Yadav - Frontiers in Cellular Neuroscience, 2021 - frontiersin.org
Dendrites undergo extensive growth and remodeling during their lifetime. Specification of
neurites into dendrites is followed by their arborization, maturation, and functional …
neurites into dendrites is followed by their arborization, maturation, and functional …
Neurodevelopmental disorder–associated mutations in TAOK1 reveal its function as a plasma membrane remodeling kinase
Mutations in TAOK1, which encodes a serine-threonine kinase, are associated with both
autism spectrum disorder (ASD) and neurodevelopmental delay (NDD). Here, we …
autism spectrum disorder (ASD) and neurodevelopmental delay (NDD). Here, we …