Pages that link to "Q55670525"

The following pages link to Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy (Q55670525):

Displaying 42 items.

• Cockayne syndrome (Q914389) (← links)
• New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish (Q24316006) (← links)
• Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development (Q24631400) (← links)
• First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure (Q24680149) (← links)
• Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice (Q24682525) (← links)
• Disease-causing missense mutations in human DNA helicase disorders (Q26828898) (← links)
• Diseases associated with defective responses to DNA damage (Q26997852) (← links)
• Mammalian transcription-coupled excision repair (Q27022616) (← links)
• Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease (Q28238547) (← links)
• A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A (Q28268795) (← links)
• Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles (Q28469053) (← links)
• Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy (Q33333583) (← links)
• Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts. (Q33951430) (← links)
• Premature aging and cancer in nucleotide excision repair-disorders (Q34025252) (← links)
• The role of nuclear bodies in gene expression and disease (Q34038183) (← links)
• DNA damage and its cellular response in mother and fetus exposed to hyperglycemic environment (Q34101100) (← links)
• On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutations (Q34174006) (← links)
• XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase. (Q34184951) (← links)
• The ERCC1 and ERCC4 (XPF) genes and gene products (Q35663361) (← links)
• DNA helicases associated with genetic instability, cancer, and aging (Q35961526) (← links)
• Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta (Q35969027) (← links)
• Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum (Q36403925) (← links)
• Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin (Q36515048) (← links)
• Nucleotide excision repair and cancer (Q36541663) (← links)
• Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage? (Q36690915) (← links)
• Mechanisms of disease: DNA repair defects and neurological disease (Q36753339) (← links)
• Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum. (Q37043787) (← links)
• Multiple roles of ubiquitination in the control of nucleotide excision repair (Q37861915) (← links)
• Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CS. (Q38905950) (← links)
• Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing (Q39393194) (← links)
• Muscle involvement in the cerebro-oculo-facio-skeletal syndrome (Q41921510) (← links)
• Hereditary Disorders with Defective Repair of UV-Induced DNA Damage (Q42152514) (← links)
• Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome (Q42219051) (← links)
• Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes (Q42440468) (← links)
• A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity (Q42510034) (← links)
• Molecular cloning and expression analysis of xpd from zebrafish (Danio rerio). (Q42629581) (← links)
• The nucleotide excision repair protein XPC is essential for bulky DNA adducts to promote interleukin-6 expression via the activation of p38-SAPK. (Q42827201) (← links)
• (Q55982593) (redirect page) (← links)
• Neurodegenerative disease and the repair of oxidatively damaged DNA (Q60585118) (← links)
• High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel (Q82609106) (← links)
• A comprehensive description of the severity groups in Cockayne syndrome (Q83824079) (← links)
• A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D (Q89667499) (← links)