X-chromosome inactivation and escape
CM Disteche, JB Berletch - Journal of genetics, 2015 - Springer
X-chromosome inactivation, which was discovered by Mary Lyon in 1961 results in random
silencing of one X chromosome in female mammals. This review is dedicated to Mary Lyon …
silencing of one X chromosome in female mammals. This review is dedicated to Mary Lyon …
[HTML][HTML] X-chromosome regulation and sex differences in brain anatomy
A Raznahan, CM Disteche - Neuroscience & Biobehavioral Reviews, 2021 - Elsevier
Humans show reproducible sex-differences in cognition and psychopathology that may be
contributed to by influences of gonadal sex-steroids and/or sex-chromosomes on regional …
contributed to by influences of gonadal sex-steroids and/or sex-chromosomes on regional …
AAV9-Tspyl2 gene therapy retards bleomycin-induced pulmonary fibrosis by modulating downstream TGF-β signaling in mice
S Zhang, X Tong, S Liu, J Huang, L Zhang… - Cell Death & …, 2023 - nature.com
Idiopathic pulmonary fibrosis (IPF) is a devastating fibrotic lung disease characterized by
scarring and destruction of the lung architecture, with limited treatment options. Targeted …
scarring and destruction of the lung architecture, with limited treatment options. Targeted …
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
V Carmignac, S Nambot, D Lehalle, P Callier… - Clinical …, 2020 - Wiley Online Library
X‐linked intellectual disability (XLID) is a genetically heterogeneous condition involving
more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine …
more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine …
Molecular insights into IQSEC2 disease
NS Levy, V Borisov, O Lache, AP Levy - International Journal of …, 2023 - mdpi.com
Recent insights into IQSEC2 disease are summarized in this review as follows:(1) Exome
sequencing of IQSEC2 patient DNA has led to the identification of numerous missense …
sequencing of IQSEC2 patient DNA has led to the identification of numerous missense …
IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy
The IQSEC2‐related disorders represent a spectrum of X‐chromosome phenotypes with
intellectual disability (ID) as the cardinal feature. Here, we review the increasing number of …
intellectual disability (ID) as the cardinal feature. Here, we review the increasing number of …
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
M Becker, F Mastropasqua, JP Reising, S Maier… - Translational …, 2020 - nature.com
CASK-related disorders are genetically defined neurodevelopmental syndromes. There is
limited information about the effects of CASK mutations in human neurons. Therefore, we …
limited information about the effects of CASK mutations in human neurons. Therefore, we …
The molecular and phenotypic spectrum of IQSEC2‐related epilepsy
A Zerem, K Haginoya, D Lev, L Blumkin, S Kivity… - …, 2016 - Wiley Online Library
Objective IQSEC 2 is an X‐linked gene associated with intellectual disability (ID) and
epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with …
epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with …
Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease
AC Giles, B Grill - Neural Development, 2020 - Springer
Huwe1 is a highly conserved member of the HECT E3 ubiquitin ligase family. Here, we
explore the growing importance of Huwe1 in nervous system development, function and …
explore the growing importance of Huwe1 in nervous system development, function and …
Deep phenoty** of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
JA Radley, RBG O'Sullivan, SE Turton, H Cox… - Clinical …, 2019 - Wiley Online Library
Whole‐exome sequencing has established IQSEC2 as a neurodevelopmental disability
gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability …
gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability …