Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome
TS Moreira, AC Takakura… - Journal of …, 2016 - journals.physiology.org
The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid
nucleus (RTN) has been extensively studied. These cells are thought to function as central …
nucleus (RTN) has been extensively studied. These cells are thought to function as central …
Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient
A Shibata, J Machida, S Yamaguchi, M Kimura… - …, 2016 - academic.oup.com
Abstract Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal
dysplasia characterised by hypopalstic and/or aplastic clavicles, midface hypoplasia, absent …
dysplasia characterised by hypopalstic and/or aplastic clavicles, midface hypoplasia, absent …
[HTML][HTML] Alanine expansions associated with congenital central hypoventilation syndrome impair PHOX2B homeodomain-mediated dimerization and nuclear import
S Di Lascio, D Belperio, R Benfante… - Journal of Biological …, 2016 - ASBMB
Heterozygous mutations of the human PHOX2B gene, a key regulator of autonomic nervous
system development, lead to congenital central hypoventilation syndrome (CCHS), a …
system development, lead to congenital central hypoventilation syndrome (CCHS), a …
[PDF][PDF] Untersuchung der Fibrillenbildung des nukleären Polyadenylat-Bindeproteins 1 (PABPN1) in vivo und in vitro
J Liebold - 2016 - opendata.uni-halle.de
Die folgenden Korrekturen sind bitte nachträglich zu berücksichtigen. Während der
Vorbereitung der Verteidigung wurde ein Fehler in Abbildung 34 festgestellt. Das dritte Bild …
Vorbereitung der Verteidigung wurde ein Fehler in Abbildung 34 festgestellt. Das dritte Bild …
Biology and characterisation of polyalanine as an emerging pathological marker
SJ Stochmanski - 2016 - papyrus.bib.umontreal.ca
Eighteen severe human diseases have thus far been associated with trinucleotide repeat
(TNR) expansions coding for either polyalanine (encoded by a GCN repeat tract) or …
(TNR) expansions coding for either polyalanine (encoded by a GCN repeat tract) or …