LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "cchs" as a keyword



Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Sign Up to like & get
recommendations! Published in 2018 at "Human Mutation"

DOI: 10.1002/humu.23365

Abstract: Heterozygous mutations in the PHOX2B gene are causative of congenital central hypoventilation syndrome (CCHS), a neurocristopathy characterized by defective autonomic control of breathing due to the impaired differentiation of neural crest cells. Among PHOX2B mutations,… read more here.

Keywords: syndromic cchs; congenital central; central hypoventilation; cchs ... See more keywords

Major depressive episodes and mortality in the Canadian household population.

Sign Up to like & get
recommendations! Published in 2019 at "Journal of affective disorders"

DOI: 10.1016/j.jad.2018.08.030

Abstract: OBJECTIVE To explore the association between major depressive episodes (MDE) and subsequent mortality in a representative sample of the general household population, with adjustment for other determinants of mortality. METHOD The analysis used four datasets… read more here.

Keywords: household population; mde; major depressive; mortality ... See more keywords

0901 An odd presentation of a hidden curse

Sign Up to like & get
recommendations! Published in 2023 at "SLEEP"

DOI: 10.1093/sleep/zsad077.0901

Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory deficiency due to a mutation in the PHOX2B gene. Clinical presentation may be mild in certain individuals due to different levels of ventilatory dysregulation.… read more here.

Keywords: cchs; presentation; ventilatory; patient ... See more keywords

Cerebral Autoregulation During Orthostatic Challenge in Congenital Central Hypoventilation Syndrome.

Sign Up to like & get
recommendations! Published in 2021 at "American journal of respiratory and critical care medicine"

DOI: 10.1164/rccm.202103-0732oc

Abstract: RATIONALE Congenital Central Hypoventilation Syndrome (CCHS) is a rare autonomic disorder with altered regulation of breathing, heart rate (HR), and blood pressure (BP). Aberrant cerebral oxygenation in response to hypercapnia/hypoxia in CCHS raises concern that… read more here.

Keywords: cchs; congenital central; cerebral autoregulation; central hypoventilation ... See more keywords

The PHOX2B c.428A>G missense variant affects post-transcriptional regulation and may explain the absence of neural crest-derived tumors in congenital central hypoventilation syndrome

Sign Up to like & get
recommendations! Published in 2025 at "Frontiers in Physiology"

DOI: 10.3389/fphys.2025.1616994

Abstract: Introduction Heterozygous mutations in the paired-like homeobox 2b (PHOX2B) gene cause congenital central hypoventilation syndrome (CCHS). While polyalanine expansions are almost exclusively associated with isolated CCHS, missense, nonsense, and frameshift mutations are mainly identified in… read more here.

Keywords: variant; missense; hscr; congenital central ... See more keywords