X-linked clonality testing: interpretation and limitations (Q34619256)

3 August 2017

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title

X-linked clonality testing: interpretation and limitations (English)

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3 August 2017

Josef T Prchal

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3 August 2017

George L Chen

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3 August 2017

language of work or name

English

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publication date

13 April 2007

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3 August 2017

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3 August 2017

volume

110

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3 August 2017

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3 August 2017

page(s)

1411-1419

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Attenuated spread of X-inactivation in an X;autosome translocation

3 August 2017

cites work

1 reference

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X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoies

7 July 2018

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Transient homologous chromosome pairing marks the onset of X inactivation

7 July 2018

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JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia

7 July 2018

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Identification of an acquired JAK2 mutation in polycythemia vera

7 July 2018

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A gain-of-function mutation of JAK2 in myeloproliferative disorders

7 July 2018

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A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

7 July 2018

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Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

7 July 2018

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X-inactivation profile reveals extensive variability in X-linked gene expression in females

7 July 2018

1 reference

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Twin study of genetic and aging effects on X chromosome inactivation

7 July 2018

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Clinical impact of molecular diagnostics in low-grade lymphoma

7 July 2018

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Recent advances in X-chromosome inactivation

7 July 2018

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Epigenetic dynamics of imprinted X inactivation during early mouse development

7 July 2018

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The normal human female as a mosaic of X-chromosome activity: studies using the gene for C-6-PD-deficiency as a marker

7 July 2018

1 reference

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Gene action in the X-chromosome of the mouse (Mus musculus L.)

7 July 2018

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Biology of the X chromosome

7 July 2018

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7 July 2018

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Regulation of imprinted X-chromosome inactivation in mice by Tsix.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Evidence for a Graves' disease susceptibility locus at chromosome Xp11 in a United Kingdom population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

X-linked genetic factors regulate hematopoietic stem-cell kinetics in females.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Tsix, a gene antisense to Xist at the X-inactivation centre

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X-chromosome. International Consortium for the Genetics of Autoimmune Thyroid Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

An X chromosome gene regulates hematopoietic stem cell kinetics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Rapid determination of clonality by detection of two closely-linked X chromosome exonic polymorphisms using allele-specific PCR.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3' splice site.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Clonal stability of blood cell lineages indicated by X-chromosomal transcriptional polymorphism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Requirement for Xist in X chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

The significance of detection of minimal residual disease in childhood acute lymphoblastic leukaemia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Persistence of the 8;21 translocation in patients with acute myeloid leukemia type M2 in long-term remission.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Linkage studies in carriers of Lowe oculo-cerebro-renal syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Mammalian X-chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

X-chromosome inactivation patterns using HPRT and PGK polymorphisms in haematologically normal and post-chemotherapy females.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Polycythemia vera: stem-cell and probable clonal origin of the disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Polycythemia vera is not initiated by JAK2V617F mutation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Clinical implications of the JAK2 V617F mutation in essential thrombocythemia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

X chromosome monosomy: a common mechanism for autoimmune diseases.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Immunophenotypic differences between diagnosis and relapse in childhood AML: Implications for MRD monitoring.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Frequency of monosomy X in women with primary biliary cirrhosis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Xite, X-inactivation intergenic transcription elements that regulate the probability of choice

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Discrimination of polycythemias and thrombocytoses by novel, simple, accurate clonality assays and comparison with PRV-1 expression and BFU-E response to erythropoietin

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Quantitative real-time RT-PCR analysis of PML-RAR alpha mRNA in acute promyelocytic leukemia: assessment of prognostic significance in adult patients from intergroup protocol 0129.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Disruption of imprinted X inactivation by parent-of-origin effects at Tsix.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

A polymorphism of the X-linked gene IDS increases the number of females informative for transcriptional clonality assays

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

A novel clonality assay based on transcriptional polymorphism of X chromosome gene p55.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Genetic control of X inactivation and processes leading to X-inactivation skewing.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975831

Allocycly of the X-chromosome in tumors and normal tissues

26 October 2018

1 reference

12 December 2020

High Frequency of Skewed X-Chromosome Inactivation in Females with Autoimmune Thyroid Disease: A Possible Explanation for the Female Predisposition to Thyroid Autoimmunity

1 reference

12 December 2020

Essential thrombocythemias without V617F JAK2 mutation are clonal hematopoietic stem cell disorders

1 reference

12 December 2020

X-linked Wiskott-Aldrich syndrome in a girl

1 reference

12 December 2020

X chromosome inactivation patterns in normal females

1 reference

12 December 2020

The single-X nature of sex chromatin in man

1 reference

12 December 2020

Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases

1 reference

12 December 2020

Skewed X chromosome inactivation in blood cells of women with scleroderma

1 reference

12 December 2020

A novel clonality assay based on transcriptional analysis of the active X chromosome

1 reference

12 December 2020

Polymerase chain reaction detection of the BCR-ABL fusion transcript after allogeneic marrow transplantation for chronic myeloid leukemia: results and implications in 346 patients

1 reference

12 December 2020

Kinetics of increasing BCR-ABL transcript numbers in chronic myeloid leukemia patients who relapse after bone marrow transplantation

1 reference

12 December 2020

Level of minimal residual disease after consolidation therapy predicts outcome in acute myeloid leukemia

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12 December 2020

Assessment of mechanism of acquired skewed X inactivation by analysis of twins

1 reference

12 December 2020

Early detection of BCR-ABL transcripts by quantitative reverse transcriptase-polymerase chain reaction predicts outcome after allogeneic stem cell transplantation for chronic myeloid leukemia

1 reference

12 December 2020

Early immunophenotypical evaluation of minimal residual disease in acute myeloid leukemia identifies different patient risk groups and may contribute to postinduction treatment stratification

1 reference

12 December 2020

Sequence analysis of clonal immunoglobulin and T-cell receptor gene rearrangements in children with acute lymphoblastic leukemia at diagnosis and at relapse: implications for pathogenesis and for the clinical utility of PCR-based methods of minimal r

1 reference

12 December 2020

A longitudinal study of X-inactivation ratio in human females

1 reference

12 December 2020

Value of Genetic Variants of Glucose-6-Phosphate Dehydrogenase in Tracing the Origin of Malignant Tumors

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12 December 2020

A common progenitor for human myeloid and lymphoid cells

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12 December 2020

Cellular expression of Wiskott-Aldrich allele

1 reference

12 December 2020

Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection

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12 December 2020

Colonic villous adenoma. Monoclonal origin

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12 December 2020

Studying X inactivation

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12 December 2020

Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets

1 reference

12 December 2020

10.1182/BLOOD-2006-09-018655

Identifiers

DOI

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3 August 2017

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3 August 2017

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