Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation

Item
http://www.wikidata.org/entity/Q33829127
Inter-individual variation in DNA repair capacity: a need for multi-pathway functional assays to promote translational DNA repair researchmiR-1279, miR-548j, miR-548m, and miR-548d-5p binding sites in CDSs of paralogous and orthologous PTPN12, MSH6, and ZEB1 GenesCooperative nuclear localization sequences lend a novel role to the N-terminal region of MSH6.Repair of endogenous DNA base lesions modulate lifespan in miceMsh6 protects mature B cells from lymphoma by preserving genomic stability.Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.Metachronous occurrence of nonradiation-induced brain cavernous hemangioma and medulloblastoma in a child with neurofibromatosis type I phenotype.Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Molecular characterisation of murine acute myeloid leukaemia induced by 56Fe ion and 137Cs gamma ray irradiation.Association of MSH6 mutation with glioma susceptibility, drug resistance and progression.A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Constitutional mismatch repair-deficiency syndromeMultiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.MSH6 haploinsufficiency at relapse contributes to the development of thiopurine resistance in pediatric B-lymphoblastic leukemia.Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
P2860

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation

Item
http://www.wikidata.org/entity/Q33829127
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Constitutional mismatch repair ...... novel biallelic MSH6 mutation
@ast
Constitutional mismatch repair ...... novel biallelic MSH6 mutation
@en
type
label
Constitutional mismatch repair ...... novel biallelic MSH6 mutation
@ast
Constitutional mismatch repair ...... novel biallelic MSH6 mutation
@en
prefLabel
Constitutional mismatch repair ...... novel biallelic MSH6 mutation
@ast
Constitutional mismatch repair ...... novel biallelic MSH6 mutation
@en
P1433
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Constitutional mismatch repair ...... novel biallelic MSH6 mutation
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P2093
P2860
P304
P31
P356
10.3324/HAEMATOL.2009.015503
P433
P478
P50
P577
P698
P921
P932