Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1
Summary Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative
disease in that it is caused by a mutation in a broadly expressed protein, ATXN1; however …
disease in that it is caused by a mutation in a broadly expressed protein, ATXN1; however …
Potential clinical applications of advanced genomic analysis in cerebral palsy
SA Lewis, A Ruttenberg, T Iyiyol, N Kong, SC Jin… - …, 2024 - thelancet.com
Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging
research suggests that genetic variations are also important causes of CP. While microarray …
research suggests that genetic variations are also important causes of CP. While microarray …
MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function
SS Bajikar, AG Anderson, J Zhou, MA Durham… - Elife, 2023 - elifesciences.org
Loss-and gain-of-function of MeCP2 causes Rett syndrome (RTT) and MECP2 duplication
syndrome (MDS), respectively. MeCP2 binds methyl-cytosines to finely tune gene …
syndrome (MDS), respectively. MeCP2 binds methyl-cytosines to finely tune gene …
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome
E Maino, O Scott, SZ Rizvi, WS Chan… - Disease Models & …, 2024 - journals.biologists.com
ABSTRACT MECP2 duplication syndrome (MDS) is a neurodevelopmental disorder caused
by tandem duplication of the MECP2 locus and its surrounding genes, including IRAK1 …
by tandem duplication of the MECP2 locus and its surrounding genes, including IRAK1 …
A Cas9-fusion proximity-based approach generates an Irak1-Mecp2 tandem duplication mouse model for the study of MeCP2 duplication syndrome
E Maino, O Scott, SZ Rizvi, WS Chan… - Disease Models & …, 2024 - journals.biologists.com
MECP2 duplication syndrome (MDS) is a neurodevelopmental disorder caused by tandem
duplication of the MECP2 locus and its surrounding genes, including IRAK1. Current MDS …
duplication of the MECP2 locus and its surrounding genes, including IRAK1. Current MDS …
[HTML][HTML] Differential silencing of STAT3 isoforms leads to changes in STAT3 activation
I Shamir, I Tsarfaty, G Paret, Y Nevo-Caspi - Oncotarget, 2023 - oncotarget.com
Signal transducer and activator of transcription 3 (STAT3) is a transcription factor involved in
multiple fundamental biological processes and a key player in cancer development and …
multiple fundamental biological processes and a key player in cancer development and …
[引用][C] 2023 IRSF Rett Syndrome Scientific Meeting June 5-7, 2023, Nashville, Tennessee, USA
N Garg, Z Zhou, ED Marsh, CM Niswender… - Translational Science of … - IOS Press