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

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

Human mutation - 1 Feb 2018

Di Lascio Simona, Benfante Roberta, Di Zanni Eleonora, Cardani Silvia, Adamo Annalisa, Fornasari Diego, Ceccherini Isabella, Bachetti Tiziana

Abstract excerpt

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, polyalanine (polyAla) expansions are almost exclusively associated with isolated CCHS, whereas frameshift variants, although less frequent, are...

Read the complete abstract on PubMed

Topics

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

Share to Electrophoretic Mobility Shift Assay
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HeLa Cells

Share to Homeodomain Proteins

Share to Hypoventilation

Share to Microscopy, Fluorescence

Share to Sleep Apnea, Central

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 29098737
DOI: 10.1002/humu.23365
PMCID: PMC5846889

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.PMID 29098737Read ↗

Causative and common PHOX2B variants define a broad phenotypic spectrumSemantic proximity Read ↗

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.Semantic proximity Read ↗

Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation.Semantic proximity Read ↗

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.Semantic proximity Read ↗

Molecular insights into the role of the polyalanine region in mediating PHOX 2B aggregationSemantic proximity Read ↗

Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear ImportSemantic proximity Read ↗

PHOX2B deletion in congenital central hypoventilation syndrome: is this sufficient for pathogenesis?Semantic proximity Read ↗

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.Semantic proximity Read ↗

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.Semantic proximity Read ↗

<i>PHOX2B</i> mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndromeSemantic proximity Read ↗

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.Semantic proximity Read ↗

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