Literature DB >> 1704803

The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene.

R Oner, F Kutlar, L H Gu, T H Huisman.   

Abstract

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Year:  1991        PMID： 1704803

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  6 in total

1.  Compound heterozygosity for a beta zero-thalassemia (frameshift codons 38/39; -C) and a nondeletional Swiss type of HPFH (A----C at NT -110, G gamma) in a Czechoslovakian family.

Authors:  K Indrak; J Indrakova; F Kutlar; D Pospisilova; I Sulovska; E Baysal; T H Huisman
Journal:  Ann Hematol       Date:  1991-08       Impact factor: 3.673

Review 2.  Manipulation of Developmental Gamma-Globin Gene Expression: an Approach for Healing Hemoglobinopathies.

Authors:  Vigneshwaran Venkatesan; Saranya Srinivasan; Prathibha Babu; Saravanabhavan Thangavel
Journal:  Mol Cell Biol       Date:  2020-12-21       Impact factor: 4.272

3.  Role of the duplicated CCAAT box region in gamma-globin gene regulation and hereditary persistence of fetal haemoglobin.

Authors:  A Ronchi; M Berry; S Raguz; A Imam; N Yannoutsos; S Ottolenghi; F Grosveld; N Dillon
Journal:  EMBO J       Date:  1996-01-02       Impact factor: 11.598

4.  Human telomere disease due to disruption of the CCAAT box of the TERC promoter.

Authors:  Anna M Aalbers; Sachiko Kajigaya; Marry M van den Heuvel-Eibrink; Vincent H J van der Velden; Rodrigo T Calado; Neal S Young
Journal:  Blood       Date:  2012-02-08       Impact factor: 22.113

5.  Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding.

Authors:  Gabriella E Martyn; Beeke Wienert; Lu Yang; Manan Shah; Laura J Norton; Jon Burdach; Ryo Kurita; Yukio Nakamura; Richard C M Pearson; Alister P W Funnell; Kate G R Quinlan; Merlin Crossley
Journal:  Nat Genet       Date:  2018-04-02       Impact factor: 38.330

6.  Activation of γ-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.

Authors:  Phillip A Doerfler; Ruopeng Feng; Yichao Li; Lance E Palmer; Shaina N Porter; Henry W Bell; Merlin Crossley; Shondra M Pruett-Miller; Yong Cheng; Mitchell J Weiss
Journal:  Nat Genet       Date:  2021-08-02       Impact factor: 38.330
  6 in total

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