Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach (Q24289319)

Petros Papadopoulos

33

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Joseph Borg

Joseph Borg

2

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Paula Faustino

Paula Faustino

12

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Marianthi Georgitsi

Marianthi Georgitsi

18

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Douglas Higgs

Douglas R Higgs

3

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Stephan Menzel

Stephan Menzel

27

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Jan Traeger-Synodinos

Jan Traeger-Synodinos

42

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Ross Hardison

Ross C Hardison

50

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Cornelis L Harteveld

21

Cornelis L Harteveld

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Swee Lay Thein

41

Swee Lay Thein

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George P Patrinos

51

George P Patrinos

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Donna R. Maglott

6

Donna Maglott

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Belinda M Giardine

1

Belinda Giardine

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Cathy Riemer

37

Cathy Riemer

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Panagoula Kollia

26

Panagoula Kollia

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Kamran Moradkhani

29

Kamran Moradkhani

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David H K Chui

48

David H K Chui

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Henri Wajcman

49

Henri Wajcman

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author name string

Kenneth R Peterson

4

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Sjaak Philipsen

5

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Belinda K Singleton

7

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David J Anstee

8

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A Nazli Basak

9

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Barnaby Clark

10

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Flavia C Costa

11

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Halyna Fedosyuk

13

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Alex E Felice

14

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Alain Francina

15

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Renzo Galanello

16

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Monica V E Gallivan

17

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Richard J Gibbons

19

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Piero C Giordano

20

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James D Hoyer

22

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Martin Jarvis

23

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Philippe Joly

24

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Emmanuel Kanavakis

25

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John Old

30

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Adamantia Papachatzopoulou

31

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Manoussos N Papadakis

32

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Sonja Pavlovic

34

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Lucia Perseu

35

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Milena Radmilovic

36

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Stefania Satta

38

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Iris Schrijver

39

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Maja Stojiljkovic

40

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Ray Tully

43

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Takahito Wada

44

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John S Waye

45

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Claudia Wiemann

46

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Branka Zukic

Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

47

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language of work or name

English

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publication date

April 2011

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published in

Nature Genetics

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volume

43

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issue

4

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page(s)

295-301

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copyright license

start time

20 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

1 reference

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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

19 March 2017

1 reference

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X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

19 March 2017

1 reference

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Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies

19 March 2017

1 reference

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The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stability

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor

19 March 2017

1 reference

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Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6.

27 September 2017

1 reference

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Genetic recombination as a major cause of mutagenesis in the human globin gene clusters

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Silencing of Agamma-globin gene expression during adult definitive erythropoiesis mediated by GATA-1-FOG-1-Mi2 complex binding at the -566 GATA site.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Pharmacogenomics and therapeutics of hemoglobinopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Genome architecture of the human beta-globin locus affects developmental regulation of gene expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Use of yeast artificial chromosomes (YACs) in studies of mammalian development: production of beta-globin locus YAC mice carrying human globin developmental mutants

27 September 2017

1 reference

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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

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30 May 2018

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Mutation in erythroid specific transcription factor KLF1 causes Hereditary Spherocytosis in the Nan hemolytic anemia mouse model

30 May 2018

1 reference

Crossref

Flow cytometric analysis of fetal hemoglobin in erythroid precursors of beta-thalassemia

21 January 2018

1 reference

Crossref

Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea

21 January 2018

1 reference

Crossref

Recording human globin gene variation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

Flow cytometry of erythropoiesis in culture: bivariate profiles of fetal and adult hemoglobin

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3878152

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21423179

12 December 2020

inferred from PubMed ID database lookup

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21423179

12 December 2020

inferred from PubMed ID database lookup

HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21423179

12 December 2020

inferred from PubMed ID database lookup

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.785

1 reference

Dimensions Publication ID

1048873281

0 references

1 reference

1 reference

PubMed publication ID

21423179

1 reference