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

TFIIH mutations can impact on translational fidelity of the ribosome.

Human molecular genetics - 20 Mar 2023

Khalid Fatima, Phan Tamara, Qiang Mingyue, Maity Pallab, Lasser Theresa, Wiese Sebastian, Penzo Marianna, Alupei Marius, Orioli Donata, Scharffetter-Kochanek Karin, Iben Sebastian

Abstract excerpt

TFIIH is a complex essential for transcription of protein-coding genes by RNA polymerase II, DNA repair of UV-lesions and transcription of rRNA by RNA polymerase I. Mutations in TFIIH cause the cancer prone DNA-repair disorder xeroderma pigmentosum (XP) and the developmental and premature aging disorders trichothiodystrophy (TTD) and Cockayne syndrome. A total of 50% of the TTD cases are caused by TFIIH...

Read the complete abstract on PubMed

Topics

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

Share to DNA Repair
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ribosomes

Share to Transcription Factor TFIIH

Share to Xeroderma Pigmentosum

Source

Open in PubMed Open full text

Identifiers

PMID: 36308430
DOI: 10.1093/hmg/ddac268
PMCID: PMC10026254

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

TFIIH mutations can impact on translational fidelity of the ribosome.PMID 36308430Read ↗

Nucleolar TFIIE plays a role in ribosomal biogenesis and performanceSemantic proximity Read ↗

Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.Semantic proximity Read ↗

Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.Semantic proximity Read ↗

Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.Semantic proximity Read ↗

Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome.Semantic proximity Read ↗

A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients.Semantic proximity Read ↗

TFIIH is an elongation factor of RNA polymerase I.Semantic proximity Read ↗

Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding.Semantic proximity Read ↗

Treacle Sticks the Nucleolar Responses to DNA Damage TogetherSemantic proximity Read ↗

A temperature-sensitive disorder in basal transcription and DNA repair in humans.Semantic proximity Read ↗

TFIIH: from transcription to clinicSemantic proximity Read ↗

Transcription errors induce proteotoxic stress and shorten cellular lifespan.Semantic proximity Read ↗

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