Hypothalamic syndrome
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 …
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 …
disorder caused by lack of expression of genes on the paternally inherited chromosome …
The diversity of long noncoding RNAs and their generation
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
imprinted region of chromosome 15q. Among the canonical PWS phenotypes are …
Unusual processing generates SPA LncRNAs that sequester multiple RNA binding proteins
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 …
are 5′ small nucleolar RNA (snoRNA) capped and 3′ polyadenylated (SPAs). SPA …