Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Congenital central hypoventilation syndrome: paradigm shifts and future prospects].

Nihon rinsho. Japanese journal of clinical medicine - 1 Feb 2014

Hayasaka Kiyoshi, Sasaki Ayako

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is characterized by a failure of the automatic control of breathing during sleep, and is caused by the dominant PHOX2B mutation. PHOX2B encodes a highly conserved homeobox transcription factor with two short polyalanine tracts. More than 90% of patients carry polyalanine expansion mutations (PARM) in the polyalanine tract of 20 residues and less than 10% of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Homeodomain Proteins
Share to Hypoventilation
Share to Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Identifiers

PMID: 24605541

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Congenital central hypoventilation syndrome: paradigm shifts and future prospects].PMID 24605541Read ↗

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.Semantic proximity Read ↗

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.Semantic proximity Read ↗

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: diagnosis and management.Semantic proximity Read ↗

Adult With PHOX2B Mutation and Late-Onset Congenital Central Hypoventilation SyndromeSemantic proximity Read ↗

Congenital central hypoventilation syndrome.Semantic proximity Read ↗

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Semantic proximity Read ↗

Genotype-phenotype relationship in Japanese patients with congenital central hypoventilation syndrome.Semantic proximity Read ↗

PHOX2B mutations and ventilatory control.Semantic proximity Read ↗

Extended clinical phenotype of late-onset congenital central hypoventilation syndrome in children with PHOX2B mutationsSemantic proximity Read ↗

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Semantic proximity Read ↗

Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.