Related references
Note: Only part of the references are listed.Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder
Marine Tessarech et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging
Molly E. Kuo et al.
TRENDS IN GENETICS (2020)
The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage
Kateryna Shostak et al.
NATURE COMMUNICATIONS (2020)
Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
Mohammed Alzaid et al.
SAUDI MEDICAL JOURNAL (2019)
TFIIE orchestrates the recruitment of the TFIIH kinase module at promoter before release during transcription
Emmanuel Compe et al.
NATURE COMMUNICATIONS (2019)
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
Arjan F. Thei et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
The DNA damage response to transcription stress
Hannes Lans et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids
Christina Sundal et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2019)
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
Molly E. Kuo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Pathways of cellular proteostasis in aging and disease
Courtney L. Klaips et al.
JOURNAL OF CELL BIOLOGY (2018)
Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome
Marius Costel Alupei et al.
CELL REPORTS (2018)
A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom
Yi-Kun Zhou et al.
BMC MEDICAL GENETICS (2018)
Role of Cwc24 in the First Catalytic Step of Splicing and Fidelity of 5′ Splice Site Selection
Nan-Ying Wu et al.
MOLECULAR AND CELLULAR BIOLOGY (2017)
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
Arjan F. Theil et al.
HUMAN MOLECULAR GENETICS (2017)
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
Tojo Nakayama et al.
HUMAN MUTATION (2017)
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
Christiane Kuschal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Nucleotide Excision Repair and Transcriptional Regulation: TFIIH and Beyond
Emmanuel Compe et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 85 (2016)
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
Cas Simons et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Mark A. Corbett et al.
JOURNAL OF MEDICAL GENETICS (2015)
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin
Lavinia Arseni et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
TTDA: Big impact of a small protein
Arjan F. Theil et al.
EXPERIMENTAL CELL RESEARCH (2014)
Understanding nucleotide excision repair and its roles in cancer and ageing
Jurgen A. Marteijn et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2014)
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Gaia Novarino et al.
SCIENCE (2014)
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
Eline van Meel et al.
BMC MEDICAL GENETICS (2013)
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
Michael Gonzalez et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2013)
A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease
Philippe Latour et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Trichothiodystrophy: From basic mechanisms to clinical implications
M. Stefanini et al.
DNA REPAIR (2010)
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Radoje Drmanac et al.
SCIENCE (2010)
Genotype-Phenotype Relationships in Trichothiodystrophy Patients With Novel Splicing Mutations in the XPD Gene
Elena Botta et al.
HUMAN MUTATION (2009)
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Wim J. Kleijer et al.
DNA REPAIR (2008)
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy
K Nakabayashi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A
G Giglia-Mari et al.
NATURE GENETICS (2004)
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy
E Botta et al.
HUMAN MOLECULAR GENETICS (2002)
Premature aging in mice deficient in DNA repair and transcription
J de Boer et al.
SCIENCE (2002)
A temperature-sensitive disorder in basal transcription and DNA repair in humans
W Vermeulen et al.
NATURE GENETICS (2001)
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
W Vermeulen et al.
NATURE GENETICS (2000)
Share Paper
