BCL11A c.386-25379C>T

Variant ID: 2-60721347-G-A

NM_022893.3(BCL11A):c.386-25379C>T

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs7557939
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis.

Frontiers In Pharmacology
Sales, Rahyssa Rodrigues RR; Nogueira, Bárbara Lisboa BL; Tosatti, Jéssica Abdo Gonçalves JAG; Gomes, Karina Braga KB; Luizon, Marcelo Rizzatti MR
Publication Date: 2021

Variant appearance in text: rs7557939
PubMed Link: 35126118
Variant Present in the following documents:
  • Main text
  • fphar-12-779497.pdf
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Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China.

Journal Of Clinical Laboratory Analysis
Wu, Heming H; Huang, Qingyan Q; Yu, Zhikang Z; Zhong, Zhixiong Z
Publication Date: 2021-12

Variant appearance in text: rs7557939
PubMed Link: 34752669
Variant Present in the following documents:
  • Main text
  • JCLA-35-e24105.pdf
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Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China.

Journal Of Clinical Laboratory Analysis
Wu, Heming H; Huang, Qingyan Q; Yu, Zhikang Z; Zhong, Zhixiong Z
Publication Date: 2021-12

Variant appearance in text: rs7557939
PubMed Link: 34752669
Variant Present in the following documents:
  • Main text
  • JCLA-35-e24105.pdf
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Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.

Scientific Reports
Hariharan, Priya P; Gorivale, Manju M; Sawant, Pratibha P; Mehta, Pallavi P; Nadkarni, Anita A
Publication Date: 2021-10-22

Variant appearance in text: rs7557939
PubMed Link: 34686692
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_169.pdf
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Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers.

Archives Of Medical Science : Ams
Cyrus, Cyril C; Vatte, Chittibabu C; Chathoth, Shahanas S; Sayed, Abdul Azeez AA; Borgio, J Francis JF; Alrubaish, Mohammed Abdullah MA; Alfalah, Rawan R; Alsaikhan, Jana J; Al Ali, Amein K AK
Publication Date: 2021

Variant appearance in text: rs7557939
PubMed Link: 34336034
Variant Present in the following documents:
  • Main text
  • AMS-17-4-91080.pdf
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Genotypic Diversity among Angolan Children with Sickle Cell Anemia.

International Journal Of Environmental Research And Public Health
Delgadinho, Mariana M; Ginete, Catarina C; Santos, Brígida B; Miranda, Armandina A; Brito, Miguel M
Publication Date: 2021-05-19

Variant appearance in text: rs7557939
PubMed Link: 34069401
Variant Present in the following documents:
  • Main text
  • ijerph-18-05417.pdf
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Surveillance for sickle cell disease, United Republic of Tanzania.

Bulletin Of The World Health Organization
Ambrose, Emmanuela E EE; Smart, Luke R LR; Charles, Mwesige M; Hernandez, Arielle G AG; Latham, Teresa T; Hokororo, Adolfine A; Beyanga, Medard M; Howard, Thad A TA; Kamugisha, Erasmus E; McElhinney, Kathryn E KE; Tebuka, Erius E; Ware, Russell E RE
Publication Date: 2020-12-01

Variant appearance in text: rs7557939
PubMed Link: 33293746
Variant Present in the following documents:
  • Main text
  • BLT.20.253583.pdf
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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.

Human Mutation
Fanis, Pavlos P; Kousiappa, Ioanna I; Phylactides, Marios M; Kyrri, Andreani A; Hadjigavriel, Michael M; Christou, Soteroula S; Sitarou, Maria M; Kleanthous, Marina M
Publication Date: 2019-10

Variant appearance in text: rs7557939
PubMed Link: 31115947
Variant Present in the following documents:
  • Main text
  • HUMU-40-1768.pdf
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Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.

Biomed Research International
Cyrus, Cyril C; Vatte, Chittibabu C; Borgio, J Francis JF; Al-Rubaish, Abdullah A; Chathoth, Shahanas S; Nasserullah, Zaki A ZA; Jarrash, Sana Al SA; Sulaiman, Ahmed A; Qutub, Hatem H; Alsaleem, Hassan H; Alzahrani, Alhusain J AJ; Steinberg, Martin H MH; Ali, Amein K Al AK
Publication Date: 2017

Variant appearance in text: rs7557939
PubMed Link: 28280727
Variant Present in the following documents:
  • Main text
  • BMRI2017-1972429.pdf
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An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine.

Omics : A Journal Of Integrative Biology
Mnika, Khuthala K; Pule, Gift D GD; Dandara, Collet C; Wonkam, Ambroise A
Publication Date: 2016-10

Variant appearance in text: rs7557939
PubMed Link: 27636225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.

Experimental Biology And Medicine (Maywood, N.J.)
Liu, Li L; Pertsemlidis, Alexander A; Ding, Liang-Hao LH; Story, Michael D MD; Steinberg, Martin H MH; Sebastiani, Paola P; Hoppe, Carolyn C; Ballas, Samir K SK; Pace, Betty S BS
Publication Date: 2016-04

Variant appearance in text: rs7557939
PubMed Link: 27022141
Variant Present in the following documents:
  • Main text
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A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease.

Expert Review Of Hematology
Pule, Gift D GD; Mowla, Shaheen S; Novitzky, Nicolas N; Wiysonge, Charles S CS; Wonkam, Ambroise A
Publication Date: 2015-10

Variant appearance in text: rs7557939
PubMed Link: 26327494
Variant Present in the following documents:
  • Main text
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Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses.

Scientific Reports
Chen, Geng G; Yu, Dianke D; Chen, Jiwei J; Cao, Ruifang R; Yang, Juan J; Wang, Huan H; Ji, Xiangjun X; Ning, Baitang B; Shi, Tieliu T
Publication Date: 2015-03-30

Variant appearance in text: rs7557939
PubMed Link: 25819875
Variant Present in the following documents:
  • srep09453-s1.pdf
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Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.

Bmc Genomics
Fanis, Pavlos P; Kousiappa, Ioanna I; Phylactides, Marios M; Kleanthous, Marina M
Publication Date: 2014-02-06

Variant appearance in text: rs7557939
PubMed Link: 24502199
Variant Present in the following documents:
  • Main text
  • 1471-2164-15-108.pdf
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A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

American Journal Of Hematology
Belfer, Inna I; Youngblood, Victoria V; Darbari, Deepika S DS; Wang, Zhengyuan Z; Diaw, Lena L; Freeman, Lita L; Desai, Krupa K; Dizon, Michael M; Allen, Darlene D; Cunnington, Colin C; Channon, Keith M KM; Milton, Jacqueline J; Hartley, Stephen W SW; Nolan, Vikki V; Kato, Gregory J GJ; Steinberg, Martin H MH; Goldman, David D; Taylor, James G JG
Publication Date: 2014-02

Variant appearance in text: rs7557939
PubMed Link: 24136375
Variant Present in the following documents:
  • Main text
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Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea.

Plos One
Green, Nancy S NS; Ender, Katherine L KL; Pashankar, Farzana F; Driscoll, Catherine C; Giardina, Patricia J PJ; Mullen, Craig A CA; Clark, Lorraine N LN; Manwani, Deepa D; Crotty, Jennifer J; Kisselev, Sergey S; Neville, Kathleen A KA; Hoppe, Carolyn C; Barral, Sandra S
Publication Date: 2013

Variant appearance in text: rs7557939
PubMed Link: 23409025
Variant Present in the following documents:
  • Main text
  • pone.0055709.pdf
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Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia.

Blood
Ware, Russell E RE; Despotovic, Jenny M JM; Mortier, Nicole A NA; Flanagan, Jonathan M JM; He, Jin J; Smeltzer, Matthew P MP; Kimble, Amy C AC; Aygun, Banu B; Wu, Song S; Howard, Thad T; Sparreboom, Alex A
Publication Date: 2011-11-03

Variant appearance in text: rs7557939
PubMed Link: 21876119
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs7557939
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
  • gei-2-2009-023.pdf
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DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lettre, Guillaume G; Sankaran, Vijay G VG; Bezerra, Marcos André C MA; Araújo, Aderson S AS; Uda, Manuela M; Sanna, Serena S; Cao, Antonio A; Schlessinger, David D; Costa, Fernando F FF; Hirschhorn, Joel N JN; Orkin, Stuart H SH
Publication Date: 2008-08-19

Variant appearance in text: rs7557939
PubMed Link: 18667698
Variant Present in the following documents:
  • Main text
View BVdb publication page