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

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

Molecular genetics and metabolism - 1 May 2024

de Barcelos Isabella Peixoto, Woidill Sarah, Gavazzi Francesco, Modesti Nicholson B, Sevagamoorthy Anjana, Vanderver Adeline, Adang Laura

Abstract excerpt

OBJECTIVE: Aicardi Goutières Syndrome (AGS) is a genetic interferonopathy associated with multisystemic heterogeneous disease and neurologic dysfunction. AGS includes a broad phenotypic spectrum which is only partially explained by genotype. To better characterize this variability, we will perform a systematic analysis of phenotypic variability in familial cases of AGS. METHODS: Among thirteen families,...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Diseases of the Nervous System
Share to Exodeoxyribonucleases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interferon-Induced Helicase, IFIH1

Share to Monomeric GTP-Binding Proteins

Share to Nervous System Malformations

Share to Ribonuclease H

Share to SAM Domain and HD Domain-Containing Protein 1

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 38368708
DOI: 10.1016/j.ymgme.2024.108346
PMCID: PMC11431181

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).PMID 38368708Read ↗

Systemic complications of Aicardi Goutières syndrome using real-world data.Semantic proximity Read ↗

Developmental Outcomes of Aicardi Goutières Syndrome.Semantic proximity Read ↗

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.Semantic proximity Read ↗

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Semantic proximity Read ↗

Aicardi-Goutières syndrome: A monogenic type I interferonopathy.Semantic proximity Read ↗

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewSemantic proximity Read ↗

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndromeSemantic proximity Read ↗

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.Semantic proximity Read ↗

Multi-dimensional insight into the coexistence of pathogenic genes for ADAR1 and TSC2: careful consideration is essential for interpretation of ADAR1 variantsSemantic proximity Read ↗

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.Semantic proximity Read ↗

Aicardi–Goutieres syndrome: from patients to genes and beyondSemantic proximity Read ↗

Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.Semantic proximity Read ↗

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