Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
S Yamamoto, O Kanca, MF Wangler… - Nature Reviews …, 2024 - nature.com
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
E Poggio, L Barazzuol, A Salmaso, C Milani… - Genetics in …, 2023 - Elsevier
Purpose ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting
ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2 …
ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2 …
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
T Ha, A Morgan, MN Bartos, K Beatty… - American Journal of …, 2024 - Wiley Online Library
The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D.
melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding …
melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding …
[HTML][HTML] Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
PBM Del Rocío, MP Bralo, M Vanhooydonck… - medRxiv, 2024 - ncbi.nlm.nih.gov
Abstract 8q21. 11 microdeletions encompassing the gene encoding transcription factor
ZFHX4, have previously been associated by us with a syndromic form of intellectual …
ZFHX4, have previously been associated by us with a syndromic form of intellectual …
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
MR Pérez Baca, M Palomares Bralo, M Vanhooydonck… - medRxiv, 2024 - medrxiv.org
8q21. 11 microdeletions encompassing the gene encoding transcription factor ZFHX4, have
previously been associated by us with a syndromic form of intellectual disability, hypotonia …
previously been associated by us with a syndromic form of intellectual disability, hypotonia …
The ZMYND8 chromatin factor protects cardiomyocyte identity and function in the mouse heart
Appropriate gene expression within cardiomyocytes is coordinated by chromatin factors and
is essential for heart function. We investigated the role of the chromatin reader ZMYND8 in …
is essential for heart function. We investigated the role of the chromatin reader ZMYND8 in …
Characterization of Mechanisms for Epigenetic and Transcriptomic Regulation within Human Brain Cells
J Wang - 2024 - unsworks.unsw.edu.au
This thesis investigates the mechanisms of gene expression regulation in the human brain,
and in particular the role of transcriptional regulation implicated in intellectual disability, and …
and in particular the role of transcriptional regulation implicated in intellectual disability, and …