Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling
S Javed, YT Chang, Y Cho, YJ Lee, HC Chang… - Elife, 2023 - elifesciences.org
Abstract Retinoic acid-induced 1 (RAI1) haploinsufficiency causes Smith–Magenis
syndrome (SMS), a genetic disorder with symptoms including hyperphagia, hyperlipidemia …
syndrome (SMS), a genetic disorder with symptoms including hyperphagia, hyperlipidemia …
rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice
HC Chang, YJ Lee, S Javed, M Haque… - Journal of Biological …, 2023 - ASBMB
Haploinsufficiency in retinoic acid induced 1 (RAI1) causes Smith-Magenis syndrome
(SMS), a severe neurodevelopmental disorder characterized by neurocognitive deficits and …
(SMS), a severe neurodevelopmental disorder characterized by neurocognitive deficits and …
[HTML][HTML] Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex
G Dominguez, Y Wu, J Zhou - Genes, 2024 - mdpi.com
Background: Neurodevelopmental disorders (NDDs) affect approximately 15% of children
and adolescents worldwide. This group of disorders is often polygenic with varying risk …
and adolescents worldwide. This group of disorders is often polygenic with varying risk …
Comparative analyses of the Smith− Magenis syndrome protein RAI1 in mice and common marmoset monkeys
YT Chang, YJ Lee, M Haque, HC Chang… - Journal of …, 2024 - Wiley Online Library
Abstract Retinoic acid‐induced 1 (RAI1) encodes a transcriptional regulator critical for brain
development and function. RAI1 haploinsufficiency in humans causes a syndromic autism …
development and function. RAI1 haploinsufficiency in humans causes a syndromic autism …
The multifaceted Gene 275 embedded in the PKS-PTS gene cluster was involved in the regulation of arthrobotrisin biosynthesis, TCA cycle, and septa formation in …
J Zhou, QF Wu, SH Li, JX Yan, L Wu, QY Cheng, ZQ He… - Journal of Fungi, 2022 - mdpi.com
The predominant nematode-trap** fungus Arthrobotrys oligospora harbors a unique
polyketide synthase-prenyltransferase (PKS-PTS) gene cluster AOL_s00215g responsible …
polyketide synthase-prenyltransferase (PKS-PTS) gene cluster AOL_s00215g responsible …
Genome-wide DNA methylation analysis related to ALS patient progression and survival
T Yang, C Li, Q Wei, D Pang, Y Cheng, J Huang… - Journal of …, 2024 - Springer
Background Epigenetics contributes to the pathogenesis of amyotrophic lateral sclerosis
(ALS). We aimed to characterize the DNA methylation profiles associated with clinical …
(ALS). We aimed to characterize the DNA methylation profiles associated with clinical …
TSC2-mTORC1 axis regulates morphogenesis and neurological function of Gli1+ adult-born dentate granule cells
M Kowalczyk, YJ Lee, WH Huang - Molecular Biology of the Cell, 2025 - molbiolcell.org
Aberrant adult hippocampal neurogenesis is implicated in neurological and mood disorders
associated with dysregulation of the mechanistic target of rapamycin (mTOR) …
associated with dysregulation of the mechanistic target of rapamycin (mTOR) …
[BOOK][B] Involvement of Hypothalamic RAI1-Dependent BDNF Pathways in Body Weight Homeostasis
S Javed - 2023 - search.proquest.com
The treatment options for syndromic forms of obesity like Smith Magenis syndrome (SMS)
are limited. The presence of cognitive impairments further complicates the management of …
are limited. The presence of cognitive impairments further complicates the management of …
Proteomics and Phosphoproteomics Analysis of Effect of Retinoic Acid-Induced Protein 16 Knockout on Human Colon Cancer Cells
C Yibo, M Gen, D Cuiling, QI Zhongtian - Cancer Research on Prevention …, 2024 - zlfzyj.com
Objective To analyze the differences in the expressions of the total and phosphorylated
proteins in human colon cancer HCT116 cells after the knockout (KO) of retinoic acid …
proteins in human colon cancer HCT116 cells after the knockout (KO) of retinoic acid …
Characterizing a novel human induced pluripotent stem cell-derived neuronal model of Smith-Magenis syndrome
Y Cho - 2023 - search.proquest.com
Smith-Magenis syndrome (SMS) is a currently incurable neurodevelopmental disorder
characterized by autistic features, epilepsy, sleep disturbances, and developmental delay …
characterized by autistic features, epilepsy, sleep disturbances, and developmental delay …