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Items: 1 to 20 of 104

1.
Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border
Qing Li, Fang Yang, Rong Liu, Lan Luo, Yuling Yang, Lu Zhang, Huaie Liu, Wen Zhang, Zhixiang Fan, Zhaoqing Yang, Liwang Cui, Yongshu He
PLoS One. 2015; 10(7): e0134593. Published online 2015 Jul 30. doi: 10.1371/journal.pone.0134593
Correction in:
PLoS One. 2015; 10(9): e0138038.
PMCID:
PMC4520570
AbstractArticlePDF–417K
2.
The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9
Arunkumar Dhayalan, Raluca Tamas, Ina Bock, Anna Tattermusch, Emilia Dimitrova, Srikanth Kudithipudi, Sergey Ragozin, Albert Jeltsch
Hum Mol Genet. 2011 Jun 1; 20(11): 2195–2203. Published online 2011 Mar 18. doi: 10.1093/hmg/ddr107
PMCID:
PMC3090196
AbstractArticlePDF–354K
3.
ATRX has a critical and conserved role in mammalian sexual differentiation
Kim Huyhn, Marilyn B Renfree, Jennifer A Graves, Andrew J Pask
BMC Dev Biol. 2011; 11: 39. Published online 2011 Jun 14. doi: 10.1186/1471-213X-11-39
PMCID:
PMC3133603
AbstractArticlePDF–2.9M
4.
ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)
Seema Thakur, Mala Ishrie, Renu Saxena, Sumita Danda, Rose Linda, Auro Viswabandya, I.C. Verma
Indian J Med Res. 2011 Oct; 134(4): 483–486.
PMCID:
PMC3237247
AbstractArticlePDF–880K
5.
ATRX-mediated chromatin association of histone variant macroH2A1 regulates α-globin expression
Kajan Ratnakumar, Luis F. Duarte, Gary LeRoy, Dan Hasson, Daniel Smeets, Chiara Vardabasso, Clemens Bönisch, Tianying Zeng, Bin Xiang, David Y. Zhang, Haitao Li, Xiaowo Wang, Sandra B. Hake, Lothar Schermelleh, Benjamin A. Garcia, Emily Bernstein
Genes Dev. 2012 Mar 1; 26(5): 433–438. doi: 10.1101/gad.179416.111
PMCID:
PMC3305981
AbstractArticlePDF–591K
6.
α-Thalassemia, Mental Retardation, and Myelodysplastic Syndrome
Richard J. Gibbons
Cold Spring Harb Perspect Med. 2012 Oct; 2(10): a011759. doi: 10.1101/cshperspect.a011759
PMCID:
PMC3475406
AbstractArticlePDF–726K
7.
G6PD Deficiency Prevalence and Estimates of Affected Populations in Malaria Endemic Countries: A Geostatistical Model-Based Map
Rosalind E. Howes, Frédéric B. Piel, Anand P. Patil, Oscar A. Nyangiri, Peter W. Gething, Mewahyu Dewi, Mariana M. Hogg, Katherine E. Battle, Carmencita D. Padilla, J. Kevin Baird, Simon I. Hay
PLoS Med. 2012 Nov; 9(11): e1001339. Published online 2012 Nov 13. doi: 10.1371/journal.pmed.1001339
PMCID:
PMC3496665
AbstractArticlePDF–1.6M
8.
Compromised genomic integrity impedes muscle growth after Atrx inactivation
Michael S. Huh, Tina Price O’Dea, Dahmane Ouazia, Bruce C. McKay, Gianni Parise, Robin J. Parks, Michael A. Rudnicki, David J. Picketts
J Clin Invest. 2012 Dec 3; 122(12): 4412–4423. Published online 2012 Nov 1. doi: 10.1172/JCI63765
PMCID:
PMC3533543
AbstractArticlePDF–4.7M
9.
Prevalence of glucose-6-phosphate dehydrogenase deficiency and its association with Plasmodium falciparum infection among children in Iganga distric in Uganda
Denis Bwayo, Mark Kaddumukasa, Henry Ddungu, Fred Kironde
BMC Res Notes. 2014; 7: 372. Published online 2014 Jun 18. doi: 10.1186/1756-0500-7-372
PMCID:
PMC4080728
AbstractArticlePDF–290K
10.
X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation
Vijay G. Sankaran, Jacob C. Ulirsch, Vassili Tchaikovskii, Leif S. Ludwig, Aoi Wakabayashi, Senkottuvelan Kadirvel, R. Coleman Lindsley, Rafael Bejar, Jiahai Shi, Scott B. Lovitch, David F. Bishop, David P. Steensma
J Clin Invest. 2015 Apr 1; 125(4): 1665–1669. Published online 2015 Feb 23. doi: 10.1172/JCI78619
Correction in:
J Clin Invest. 2020 Jan 2; 130(1): 552.
PMCID:
PMC4396476
AbstractArticlePDF–1.2M
11.
Impact of red blood cell variants on childhood malaria in Mali: a prospective cohort study
Tatiana M Lopera-Mesa, Saibou Doumbia, Drissa Konaté, Jennifer M Anderson, Mory Doumbouya, Abdoul S Keita, Seidina AS Diakité, Karim Traoré, Michael A Krause, Ababacar Diouf, Samuel E Moretz, Gregory STullo, Kazutoyo Miura, Wenjuan Gu, Michael P Fay, Steve M Taylor, Carole A Long, Mahamadou Diakité, Rick M Fairhurst
Lancet Haematol. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Lancet Haematol. 2015 Apr 1; 2(4): e140–e149. doi: 10.1016/S2352-3026(15)00043-5
PMCID:
PMC4418020
AbstractArticlePDF–278K
12.
The roles of cohesins in mitosis, meiosis, and human health and disease
Amanda S. Brooker, Karen M. Berkowitz
Methods Mol Biol. Author manuscript; available in PMC 2015 Jul 8.
Published in final edited form as: Methods Mol Biol. 2014; 1170: 229–266. doi: 10.1007/978-1-4939-0888-2_11
PMCID:
PMC4495907
AbstractArticlePDF–1.5M
13.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario
Malay B. Mukherjee, Roshan B. Colah, Snehal Martin, Kanjaksha Ghosh
Indian J Med Res. 2015 May; 141(5): 516–520. doi: 10.4103/0971-5916.159499
PMCID:
PMC4510748
AbstractArticlePDF–930K
14.
The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
Ki Wook Yun, Soo Ahn Chae, Jung Ju Lee, Sin Weon Yun, Byoung Hoon Yoo, In Seok Lim, Eung Sang Choi, Mi-Kyung Lee
J Korean Med Sci. 2011 Jan; 26(1): 146–149. Published online 2010 Dec 22. doi: 10.3346/jkms.2011.26.1.146
PMCID:
PMC3012841
AbstractArticlePDF–1.2M
15.
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia
Habib Bouazzi, Seema Thakur, Carlos Trujillo, Mohammad Khalid Alwasiyah, Arnold Munnich
Indian J Med Res. 2016 Jan; 143(1): 43–48. doi: 10.4103/0971-5916.178589
PMCID:
PMC4822368
AbstractArticlePDF–881K
16.
Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PDViangchan and G6PDViangchan + Mahidol: Decreased stability and catalytic efficiency contribute to the clinical phenotype
Usa Boonyuen, Kamonwan Chamchoy, Thitiluck Swangsri, Naowarat Saralamba, Nicholas P.J. Day, Mallika Imwong
Mol Genet Metab. 2016 Jun; 118(2): 84–91. doi: 10.1016/j.ymgme.2016.03.008
PMCID:
PMC4894296
AbstractArticlePDF–917K
17.
Cohesin and Human Disease
Jinglan Liu, Ian D. Krantz
Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2016 Jun 6.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2008; 9: 303–320. doi: 10.1146/annurev.genom.9.081307.164211
PMCID:
PMC4894839
AbstractArticlePDF–1.2M
18.
Prevalence of G6PD deficiency and Plasmodium falciparum parasites in asymptomatic school children living in southern Ghana
Linda Eva Amoah, Akua Opong, Ruth Ayanful-Torgby, Joana Abankwa, Festus K. Acquah
Malar J. 2016; 15: 388. Published online 2016 Jul 26. doi: 10.1186/s12936-016-1440-1
PMCID:
PMC4960760
AbstractArticlePDF–1.2M
19.
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia
Nobuto Arashiki, Yuichi Takakuwa, Narla Mohandas, John Hale, Kenichi Yoshida, Hiromi Ogura, Taiju Utsugisawa, Shouichi Ohga, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Hitoshi Kanno
Haematologica. 2016 May; 101(5): 559–565. doi: 10.3324/haematol.2016.142273
PMCID:
PMC5004368
AbstractArticlePDF–1.0M
20.
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals
Suprovath Kumar Sarker, Md Tarikul Islam, Grace Eckhoff, Mohammad Amir Hossain, Syeda Kashfi Qadri, A. K. M. Muraduzzaman, Golam Sarower Bhuyan, Mohammod Shahidullah, Mohammad Abdul Mannan, Sarabon Tahura, Manzoor Hussain, Shahida Akhter, Nazmun Nahar, Tahmina Shirin, Firdausi Qadri, Kaiissar Mannoor
PLoS One. 2016; 11(11): e0166977. Published online 2016 Nov 23. doi: 10.1371/journal.pone.0166977
PMCID:
PMC5120827
AbstractArticlePDF–1.5M

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