Literature DB >> 27588453

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

Linda M Polfus, Rajiv K Khajuria, Ursula M Schick, Nathan Pankratz, Raha Pazoki, Jennifer A Brody, Ming-Huei Chen, Paul L Auer, James S Floyd, Jie Huang, Leslie Lange, Frank J A van Rooij, Richard A Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Klaudia Walter, Lu Chen, Lisa Yanek, Lewis C Becker, Gina M Peloso, Aoi Wakabayashi, Mart Kals, Andres Metspalu, Tõnu Esko, Keolu Fox, Robert Wallace, Nora Franceschini, Nena Matijevic, Kenneth M Rice, Traci M Bartz, Leo-Pekka Lyytikäinen, Mika Kähönen, Terho Lehtimäki, Olli T Raitakari, Ruifang Li-Gao, Dennis O Mook-Kanamori, Guillaume Lettre, Cornelia M van Duijn, Oscar H Franco, Stephen S Rich, Fernando Rivadeneira, Albert Hofman, André G Uitterlinden, James G Wilson, Bruce M Psaty, Nicole Soranzo, Abbas Dehghan, Eric Boerwinkle, Xiaoling Zhang, Andrew D Johnson, Christopher J O'Donnell, Jill M Johnsen, Alexander P Reiner, Santhi K Ganesh, Vijay G Sankaran.   

Abstract

Entities:  

Year:  2016        PMID： 27588453      PMCID： PMC5011073          DOI： 10.1016/j.ajhg.2016.08.002

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.

Authors:  Harald Schulze; Axel Schlagenhauf; Georgi Manukjan; Christine Beham-Schmid; Oliver Andres; Eva Klopocki; Eva-Maria König; Harald Haidl; Simon Panzer; Karina Althaus; Wolfgang E Muntean; Wolfgang Schwinger; Christian Urban; Andreas Greinacher; Tamam Bakchoul; Markus G Seidel
Journal:  Haematologica       Date:  2017-05-26       Impact factor: 9.941

Review 2.  Genetic association studies in cardiovascular diseases: Do we have enough power?

Authors:  Paul L Auer; Nathan O Stitziel
Journal:  Trends Cardiovasc Med       Date:  2017-03-24       Impact factor: 6.677

3.  Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits.

Authors:  Avik Choudhuri; Eirini Trompouki; Brian J Abraham; Leandro M Colli; Kian Hong Kock; William Mallard; Min-Lee Yang; Divya S Vinjamur; Alireza Ghamari; Audrey Sporrij; Karen Hoi; Barbara Hummel; Sonja Boatman; Victoria Chan; Sierra Tseng; Satish K Nandakumar; Song Yang; Asher Lichtig; Michael Superdock; Seraj N Grimes; Teresa V Bowman; Yi Zhou; Shinichiro Takahashi; Roby Joehanes; Alan B Cantor; Daniel E Bauer; Santhi K Ganesh; John Rinn; Paul S Albert; Martha L Bulyk; Stephen J Chanock; Richard A Young; Leonard I Zon
Journal:  Nat Genet       Date:  2020-11-23       Impact factor: 38.330

4.  Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.

Authors:  Brendan Panici; Hosei Nakajima; Colleen M Carlston; Hakan Ozadam; Can Cenik; Elif Sarinay Cenik
Journal:  Genomics       Date:  2021-04-20       Impact factor: 4.310

5.  Gfi1b: a key player in the genesis and maintenance of acute myeloid leukemia and myelodysplastic syndrome.

Authors:  Aniththa Thivakaran; Lacramioara Botezatu; Judith M Hönes; Judith Schütte; Lothar Vassen; Yahya S Al-Matary; Pradeep Patnana; Amos Zeller; Michael Heuser; Felicitas Thol; Razif Gabdoulline; Nadine Olberding; Daria Frank; Marina Suslo; Renata Köster; Klaus Lennartz; Andre Görgens; Bernd Giebel; Bertram Opalka; Ulrich Dührsen; Cyrus Khandanpour
Journal:  Haematologica       Date:  2018-01-11       Impact factor: 9.941

6.  Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Authors:  Elizabeth T Cirulli; Simon White; Robert W Read; Gai Elhanan; William J Metcalf; Francisco Tanudjaja; Donna M Fath; Efren Sandoval; Magnus Isaksson; Karen A Schlauch; Joseph J Grzymski; James T Lu; Nicole L Washington
Journal:  Nat Commun       Date:  2020-01-28       Impact factor: 14.919

Review 7.  Blood Relatives: Splicing Mechanisms underlying Erythropoiesis in Health and Disease.

Authors:  Kirsten A Reimer; Karla M Neugebauer
Journal:  F1000Res       Date:  2018-08-30

8.  Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.

Authors:  Michela Faleschini; Nicole Papa; Marie-Christine Morel-Kopp; Caterina Marconi; Tania Giangregorio; Federica Melazzini; Valeria Bozzi; Marco Seri; Patrizia Noris; Alessandro Pecci; Anna Savoia; Roberta Bottega
Journal:  Haematologica       Date:  2022-01-01       Impact factor: 9.941
  8 in total

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