Hypothalamic syndrome

HL Müller, M Tauber, EA Lawson, J Özyurt… - Nature reviews Disease …, 2022 - nature.com
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-
related injury to the hypothalamus, most commonly associated with rare, non-cancerous …

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

MA Angulo, MG Butler, ME Cataletto - Journal of endocrinological …, 2015 - Springer
Abstract Introduction Prader-Willi syndrome (PWS) is a multisystemic complex genetic
disorder caused by lack of expression of genes on the paternally inherited chromosome …

The diversity of long noncoding RNAs and their generation

H Wu, L Yang, LL Chen - Trends in genetics, 2017 - cell.com
Long noncoding RNAs (lncRNAs) are emerging as potential key regulators in gene
expression networks and exhibit a surprising range of shapes and sizes. Several distinct …

Functional diversity of small nucleolar RNAs

T Bratkovič, J Božič, B Rogelj - Nucleic acids research, 2020 - academic.oup.com
Small nucleolar RNAs (snoRNAs) are short non-protein-coding RNAs with a long-
recognized role in tuning ribosomal and spliceosomal function by guiding ribose methylation …

Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA

JM Wolter, H Mao, G Fragola, JM Simon, JL Krantz… - Nature, 2020 - nature.com
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a mutation or
deletion of the maternally inherited UBE3A allele. In neurons, the paternally inherited …

Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction

M Tauber, C Hoybye - The Lancet Diabetes & Endocrinology, 2021 - thelancet.com
Prader-Willi syndrome is a rare genetic neurodevelopmental disorder resulting from the loss
of expression of maternally imprinted genes located in the paternal chromosomal region …

El trastorno del espectro autista: aspectos etiológicos, diagnósticos y terapéuticos

C Reynoso, MJ Rangel, V Melgar - Revista médica del instituto …, 2017 - medigraphic.com
El trastorno del espectro autista (TEA) fue descrito por primera vez en 1943 por Leo Kanner,
y desde entonces se han publicado 18 490 artículos, los cuales han sido citados 48 416 …

[HTML][HTML] Prader-willi syndrome

DJ Driscoll, JL Miller, S Schwartz, SB Cassidy - 2017 - europepmc.org
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in
early infancy, followed in later infancy or early childhood by excessive eating and gradual …

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

LC Burnett, CA LeDuc, CR Sulsona… - The Journal of …, 2017 - Am Soc Clin Investig
Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an
imprinted region of chromosome 15q. Among the canonical PWS phenotypes are …

Unusual processing generates SPA LncRNAs that sequester multiple RNA binding proteins

H Wu, QF Yin, Z Luo, RW Yao, CC Zheng, J Zhang… - Molecular cell, 2016 - cell.com
We identify a type of polycistronic transcript-derived long noncoding RNAs (lncRNAs) that
are 5′ small nucleolar RNA (snoRNA) capped and 3′ polyadenylated (SPAs). SPA …