Literature DB >> 23834321

The role of the inherited disorders of hemoglobin, the first "molecular diseases," in the future of human genetics.

David J Weatherall1.   

Abstract

Although the inherited hemoglobin disorders were the first genetic diseases to be explored at the molecular level, they still have important messages for the future of medical genetics. In particular, they can offer a better understanding of the evolutionary and population biology of genetic disease, the mechanisms that underlie the phenotypic diversity of monogenic disease, and how, by developing appropriate partnerships, richer countries can help low-income countries to evolve programs for the control and management of these diseases where, in many cases, they are particularly common.

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Year:  2013        PMID: 23834321     DOI: 10.1146/annurev-genom-091212-153500

Source DB:  PubMed          Journal:  Annu Rev Genomics Hum Genet        ISSN: 1527-8204            Impact factor:   8.929


  12 in total

1.  Descriptive profile of β-thalassemia mutations in West Bengal population: a hospital-based study.

Authors:  Deboshree M Bhattacharyya; Ashis Mukhopadhyay; Jayasri Basak
Journal:  Int J Hematol       Date:  2014-02-01       Impact factor: 2.490

2.  Is medical research in danger of suffering the same fate as the NHS?

Authors:  D J Weatherall
Journal:  QJM       Date:  2014-08-18

3.  Evaluation of Longitudinal Pain Study in Sickle Cell Disease (ELIPSIS) by patient-reported outcomes, actigraphy, and biomarkers.

Authors:  Debra D Pittman; Patrick C Hines; David Beidler; Denis Rybin; Andrew L Frelinger; Alan D Michelson; Ke Liu; Xiufeng Gao; Jennell White; Ahmar U Zaidi; Robert J Charnigo; Michael U Callaghan
Journal:  Blood       Date:  2021-04-15       Impact factor: 22.113

Review 4.  Exploring epigenetic and microRNA approaches for γ-globin gene regulation.

Authors:  Athena Starlard-Davenport; Ashley Fitzgerald; Betty S Pace
Journal:  Exp Biol Med (Maywood)       Date:  2021-07-22

5.  LIN28A expression reduces sickling of cultured human erythrocytes.

Authors:  Jaira F de Vasconcellos; Ross M Fasano; Y Terry Lee; Megha Kaushal; Colleen Byrnes; Emily R Meier; Molly Anderson; Antoinette Rabel; Raul Braylan; David F Stroncek; Jeffery L Miller
Journal:  PLoS One       Date:  2014-09-04       Impact factor: 3.240

6.  SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability.

Authors:  J Noelia Dufay; J Pedro Fernández-Murray; Christopher R McMaster
Journal:  G3 (Bethesda)       Date:  2017-06-07       Impact factor: 3.154

7.  Prevalences of inherited red blood cell disorders in pregnant women of different ethnicities living along the Thailand-Myanmar border.

Authors:  Germana Bancone; Mary Ellen Gilder; Nongnud Chowwiwat; Gornpan Gornsawun; Elsi Win; Win Win Cho; Eh Moo; Aung Myat Min; Prakaykaew Charunwatthana; Verena I Carrara; Nicholas J White; Francois Nosten; Rose McGready
Journal:  Wellcome Open Res       Date:  2017-11-02

8.  Hematological and biochemical evaluation of β-thalassemia major (βTM) patients in Gaza Strip: A cross-sectional study.

Authors:  Hani Ayyash; Mahmoud Sirdah
Journal:  Int J Health Sci (Qassim)       Date:  2018 Nov-Dec

9.  MIR29B mediates epigenetic mechanisms of HBG gene activation.

Authors:  Athena Starlard-Davenport; Alana Smith; Luan Vu; Biaoru Li; Betty S Pace
Journal:  Br J Haematol       Date:  2019-03-19       Impact factor: 6.998

Review 10.  Sickle cell disease: progress towards combination drug therapy.

Authors:  Betty S Pace; Athena Starlard-Davenport; Abdullah Kutlar
Journal:  Br J Haematol       Date:  2021-01-20       Impact factor: 6.998

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