WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
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Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biologyThe epidemiology of premature aging and associated comorbiditiesMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsSearch and insights into novel genetic alterations leading to classical and atypical Werner syndromeDisease-causing missense mutations in human DNA helicase disordersMetabolic and Phenotypic Differences between Mice Producing a Werner Syndrome Helicase Mutant Protein and Wrn Null MiceWerner syndrome: Clinical features, pathogenesis and potential therapeutic interventionsHow Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend InitiativeOxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes.Discovery of variants unmasked by hemizygous deletions.Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemiaNon-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.Werner syndrome with refractory cystoid macular edema and immunohistochemical analysis of WRN proteins in human retinasDNA helicases associated with genetic instability, cancer, and aging.DNA binding residues in the RQC domain of Werner protein are critical for its catalytic activities.A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapiesNonenzymatic role for WRN in preserving nascent DNA strands after replication stress.Clinical utility gene card for: Werner Syndrome--Update 2014.Replication stress induced site-specific phosphorylation targets WRN to the ubiquitin-proteasome pathwayFunctional deficit associated with a missense Werner syndrome mutationDNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations.Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.Hereditary nonmelanoma skin cancerWRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsHomozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.Role of pseudoexons and pseudointrons in human cancer.Strategic role of the ubiquitin-dependent segregase p97 (VCP or Cdc48) in DNA replication.WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome.Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.Deep intronic mutations and human disease.Beyond Genetics in Glioma Pathways: The Ever-Increasing Crosstalk between Epigenomic and Genomic EventsBeware of Hemizygous Deletions That May Unmask Deleterious Variants.[Werner syndrome. A prototypical form of segmental progeria.]Do you know this syndrome? Werner syndrome.Clinical utility gene card for: Werner syndrome.Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey.Old trembling voice in a young female?Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
P2860
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P2860
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
WRN mutations in Werner syndro ...... d ethnic-specific alterations.
@ast
WRN mutations in Werner syndro ...... d ethnic-specific alterations.
@en
type
label
WRN mutations in Werner syndro ...... d ethnic-specific alterations.
@ast
WRN mutations in Werner syndro ...... d ethnic-specific alterations.
@en
prefLabel
WRN mutations in Werner syndro ...... d ethnic-specific alterations.
@ast
WRN mutations in Werner syndro ...... d ethnic-specific alterations.
@en
P2093
P2860
P50
P1433
P1476
WRN mutations in Werner syndro ...... d ethnic-specific alterations.
@en
P2093
Bidisha Saha
Birgit Groff-Kellermann
Carolien M Kets
Daniel K Eyman
Davor Lessel
Dincy Peter
Dru F Leistritz
Fuki M Hisama
George M Martin
P2860
P2888
P304
P356
10.1007/S00439-010-0832-5
P577
2010-05-05T00:00:00Z