[HTML][HTML] The emerging role of snoRNAs in human disease
X Zhang, C Wang, S Xia, F Xiao, J Peng, Y Gao, F Yu… - Genes & …, 2023 - Elsevier
Small nucleolar RNAs (snoRNAs) play critical roles in various biological processes. The
aberrant expression or depletion of snoRNAs is related to various diseases. In previous …
aberrant expression or depletion of snoRNAs is related to various diseases. In previous …
[HTML][HTML] Sleep consequences of prader-willi syndrome
R Itani, ES Gillett, IA Perez - Current Neurology and Neuroscience Reports, 2023 - Springer
Abstract Purpose of Review This paper reviews how sleep is impacted in patients with
Prader-Willi syndrome (PWS), focusing on sleep-related breathing disturbances and …
Prader-Willi syndrome (PWS), focusing on sleep-related breathing disturbances and …
[HTML][HTML] Neurologic orphan diseases: Emerging innovations and role for genetic treatments
IP Kioutchoukova, DT Foster, RN Thakkar… - World Journal of …, 2023 - ncbi.nlm.nih.gov
Orphan diseases are rare diseases that affect less than 200000 individuals within the United
States. Most orphan diseases are of neurologic and genetic origin. With the current …
States. Most orphan diseases are of neurologic and genetic origin. With the current …
[HTML][HTML] Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in …
MC Hoyos Sanchez, T Bayat, RRF Gee… - International Journal of …, 2023 - mdpi.com
The hypothalamus regulates fundamental aspects of physiological homeostasis and
behavior, including stress response, reproduction, growth, sleep, and feeding, several of …
behavior, including stress response, reproduction, growth, sleep, and feeding, several of …
Deleting Snord115 genes in mice remodels monoaminergic systems activity in the brain toward cortico-subcortical imbalances
V Marty, JJ Butler, B Coutens, O Chargui… - Human Molecular …, 2023 - academic.oup.com
The neuronal-specific SNORD115 has gathered interest because its deficiency may
contribute to the pathophysiology of Prader-Willi syndrome (PWS), possibly by altering post …
contribute to the pathophysiology of Prader-Willi syndrome (PWS), possibly by altering post …
Using sno-lncRNAs as potential markers for Prader-Willi syndrome diagnosis
ABSTRACT The genetic disorder Prader-Willi syndrome (PWS) is mainly caused by the loss
of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early …
of multiple paternally expressed genes in chromosome 15q11-q13 (the PWS region). Early …
[HTML][HTML] Effects of early recombinant human growth hormone treatment in young Chinese children with Prader–Willi syndrome
Y Gao, LL Yang, YL Dai, Z Shen, Q Zhou… - Orphanet Journal of Rare …, 2023 - Springer
Abstract Background Prader–Willi syndrome (PWS) is a rare and multisystemic genetic
disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global …
disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global …
[HTML][HTML] The importance of pseudouridylation: human disorders related to the fifth nucleoside
TM Keszthelyi, K Tory - Biologia Futura, 2023 - Springer
Pseudouridylation is one of the most abundant RNA modifications in eukaryotes, making
pseudouridine known as the “fifth nucleoside.” This highly conserved alteration affects all …
pseudouridine known as the “fifth nucleoside.” This highly conserved alteration affects all …
Effects of thermoneutrality on food intake, body weight, and body composition in a Prader‐Willi syndrome mouse model
S Osborne‐Lawrence, C Lawrence, NP Metzger… - …, 2023 - Wiley Online Library
Abstract Objective Prader‐Willi syndrome (PWS) is a multisystem genetic disorder.
Unfortunately, none of several mouse models carrying PWS mutations emulates the entirety …
Unfortunately, none of several mouse models carrying PWS mutations emulates the entirety …
An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome
MM Crenshaw, SL Graw, D Slavov… - Case Reports in …, 2023 - Wiley Online Library
Loss of expression of paternally imprinted genes in the 15q11. 2‐q13 chromosomal region
leads to the neurodevelopmental disorder Prader–Willi Syndrome (PWS). The PWS critical …
leads to the neurodevelopmental disorder Prader–Willi Syndrome (PWS). The PWS critical …