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

Biallelic variants in YRDC cause a developmental disorder with progeroid features.

Human genetics - 1 Dec 2021

Schmidt Julia, Goergens Jonas, Pochechueva Tatiana, Kotter Annika, Schwenzer Niko, Sitte Maren, Werner Gesa, Altmüller Janine, Thiele Holger, Nürnberg Peter, Isensee Jörg, Li Yun, Müller Christian, Leube Barbara, Reinhardt H Christian, Hucho Tim, Salinas Gabriela, Helm Mark, Jachimowicz Ron D, Wieczorek Dagmar, Kohl Tobias, Lehnart Stephan E, Yigit Gökhan, Wollnik Bernd

Abstract excerpt

The highly conserved YrdC domain-containing protein (YRDC) interacts with the well-described KEOPS complex, regulating specific tRNA modifications to ensure accurate protein synthesis. Previous studies have linked the KEOPS complex to a role in promoting telomere maintenance and controlling genome integrity. Here, we report on a newborn with a severe neonatal progeroid phenotype including generalized loss of...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomic Instability

Share to GTP-Binding Proteins

Share to Progeria

Share to RNA, Transfer

Share to Sequence Analysis, RNA

Share to Telomere Shortening

Source

Open in PubMed Open full text

Identifiers

PMID: 34545459
DOI: 10.1007/s00439-021-02347-3
PMCID: PMC8553732

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic variants in YRDC cause a developmental disorder with progeroid features.PMID 34545459Read ↗

Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.Semantic proximity Read ↗

Rothmund-Thomson syndrome, a disorder far from solvedSemantic proximity Read ↗

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.Semantic proximity Read ↗

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.Semantic proximity Read ↗

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.Semantic proximity Read ↗

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.Semantic proximity Read ↗

Epigenomic signature of the progeroid Cockayne syndrome exposes distinct and common features with physiological ageingSemantic proximity Read ↗

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.Semantic proximity Read ↗

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.Semantic proximity Read ↗

Phenotypic spectrum associated with de novo mutations in QRICH1 gene.Semantic proximity Read ↗

Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.Semantic proximity Read ↗

Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study.Semantic proximity Read ↗

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