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

Fatal systemic disorder caused by biallelic variants in FARSA.

Orphanet journal of rare diseases - 2 Aug 2022

Kim Soo Yeon, Ko Saebom, Kang Hyunook, Kim Man Jin, Moon Jangsup, Lim Byung Chan, Kim Ki Joong, Choi Murim, Choi Hee-Jung, Chae Jong-Hee

Abstract excerpt

BACKGROUND: Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. FARSA, which encodes the α subunit of cytosolic phenylalanyl-tRNA synthetase, was recently reported as a suspected causal gene for multiorgan disorder. This study aimed to validate the pathogenicity of variants in the FARSA gene. RESULTS: Exome sequencing revealed...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenylalanine

Share to RNA, Transfer

Source

Open in PubMed Open full text

Identifiers

PMID: 35918773
DOI: 10.1186/s13023-022-02457-9
PMCID: PMC9344665

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fatal systemic disorder caused by biallelic variants in FARSA.PMID 35918773Read ↗

Fatal systemic disorder caused by biallelic variants in FARSASemantic proximity Read ↗

Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.Semantic proximity Read ↗

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!Semantic proximity Read ↗

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.Semantic proximity Read ↗

Two Novel Biallelic Variants in the FARSA Gene: The First Italian Case and a Literature Review.Semantic proximity Read ↗

Expanding the phenotypic spectrum of FARSA-related interstitial lung disease: a pediatric case series and literature review.Semantic proximity Read ↗

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.Semantic proximity Read ↗

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.Semantic proximity Read ↗

Four pedigrees with aminoacyl-tRNA synthetase abnormalities.Semantic proximity Read ↗

Aminoacyl-tRNA synthetase deficiencies in search of common themes.Semantic proximity Read ↗

Aminoacyl-tRNA synthetase defects in neurological diseases.Semantic proximity Read ↗

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.Semantic proximity Read ↗

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