Works matching DE "BETA globin"

Results: 63

A common signaling pathway is activated in erythroid cells expressing high levels of fetal hemoglobin: a potential role for cAMP-elevating agents in β-globin disorders.

Published in:

Journal of Blood Medicine, 2013, v. 4, p. 149, doi. 10.2147/JBM.S54671

By:

Tohru Ikuta;
Yuichi Kuroyanagi;
Nadine Odo;
Siyang Liu

Publication type:

Article

Playing Hide-and-Seek in Beta-Globin Genes: Gene Conversion Transferring a Beneficial Mutation between Differentially Expressed Gene Duplicates.

Published in:

Genes, 2018, v. 9, n. 10, p. 492, doi. 10.3390/genes9100492

By:

Strážnická, Michaela;
Marková, Silvia;
Searle, Jeremy B.;
Kotlík, Petr

Publication type:

Article

Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study.

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 253, doi. 10.2147/TACG.S73058

By:

Boonyawat, Boonchai;
Monsereenusorn, Chalinee;
Traivaree, Chanchai

Publication type:

Article

Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3.

Published in:

Clinical Case Reports, 2017, v. 5, n. 7, p. 1107, doi. 10.1002/ccr3.990

By:

Kelkar, Anjali J.;
Moses, Anu

Publication type:

Article

Role of Ldb1 in the transition from chromatin looping to transcription activation.

Published in:

2013

By:

Krivega, Ivan;
Dean, Ann

Publication type:

Conference Paper/Materials

Dissection of the Beta-Globin Replication-Initiation Region Reveals Specific Requirements for Replicator Elements during Gene Amplification.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077350

By:

Okada, Naoya;
Shimizu, Noriaki

Publication type:

Article

Sickle haemoglobin, haemoglobin C and malaria mortality feedbacks.

Published in:

Malaria Journal, 2016, v. 15, p. 1, doi. 10.1186/s12936-015-1077-5

By:

Gonçalves, Bronner P.;
Gupta, Sunetra;
Penman, Bridget S.

Publication type:

Article

Performances of two different panfungal PCRs to detect mould DNA in formalin-fixed paraffin-embedded tissue: what are the limiting factors?

Published in:

BMC Infectious Diseases, 2014, v. 14, n. 1, p. 692, doi. 10.1186/s12879-014-0692-z

By:

Flury, B. Babouee;
Weisser, M.;
Prince, S. Savič;
Bubendorf, L.;
Battegay, M.;
Frei, R.;
Goldenberger, D.

Publication type:

Article

Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region ( HBB: c.*+118A > G) in Spain.

Published in:

Hemoglobin, 2015, v. 39, n. 1, p. 30, doi. 10.3109/03630269.2014.995805

By:

Herrera, Maria Ascensión;
De La Fuente-Gonzalo, Félix;
González, Fernando Ataúlfo;
Nieto, Jorge M.;
Dominguez, Alejandra Blum;
Villegas, Ana;
Ropero, Paloma

Publication type:

Article

Gene Expression Analysis of the Brazilian Type of Hereditary Persistence of Fetal Hemoglobin: Identification of Genes that Could be Related to γ-Globin Activation.

Published in:

Hemoglobin, 2013, v. 37, n. 6, p. 516, doi. 10.3109/03630269.2013.818016

By:

Roversi, Fernanda Marconi;
da Cunha, Anderson Ferreira;
Brugnerotto, Ana Flávia;
Carazzolle, Marcelo Falsarella;
de Albuquerque, Dulcinéia Martins;
Lanaro, Carolina;
Machado-Neto, João Agostinho;
Olalla Saad, Sara Teresinha;
da Costa, Fernando Ferreira

Publication type:

Article

Alterations in antioxidant enzyme status with lipid peroxidation in β thalassemia major patients.

Published in:

International Journal of Pharmacy & Life Sciences, 2012, v. 3, n. 10, p. 2003

By:

Patne, A. B.;
Hisalkar, P. J.;
Gaikwad, S. B.;
Patil, S. V.

Publication type:

Article

The scope of clinical morbidity in sickle cell trait.

Published in:

Egyptian Journal of Medical Human Genetics, 2014, v. 15, n. 4, p. 319, doi. 10.1016/j.ejmhg.2014.08.008

By:

Tantawy, Azza A. G.

Publication type:

Article

gene and borderline hemoglobin A<sub>2</sub> in Saudi population.

Published in:

2018

By:

Borgio, J. Francis;
AbdulAzeez, Sayed;
Al-Muslami, Ahmed M.;
Naserullah, Zaki A.;
Al-Jarrash, Sana;
Al-Suliman, Ahmed M.;
Al-Madan, Mohammed S.;
Al-Ali, Amein K.

Publication type:

journal article

Frequency of beta-globin gene mutations in beta-carrier couples in Babolsar, Iran, 2001-2011.

Published in:

Journal of Mazandaran University of Medical Sciences (JMUMS), 2014, v. 23, n. 110, p. 16

By:

Valizadeh, Farzaneh

Publication type:

Article

Beta-globin gene evolution in the ruminants: evidence for an ancient origin of sheep haplotype B.

Published in:

Animal Genetics, 2015, v. 46, n. 5, p. 506, doi. 10.1111/age.12318

By:

Jiang, Y.;
Wang, X.;
Kijas, J. W.;
Dalrymple, B. P.

Publication type:

Article

Genetic Heterogeneity of Beta Globin Mutations among Asian-Indians and Importance in Genetic Counselling and Diagnosis.

Published in:

Mediterranean Journal of Hematology & Infectious Diseases, 2013, v. 5, n. 1, p. 1, doi. 10.4084/MJHID.2013.003

By:

Kumar, Ravindra;
Singh, Kritanjali;
Panigrahi, Inusha;
Agarwal, Sarita

Publication type:

Article

Erythrocyte membrane ATPase activity in Sickle cell crisis.

Published in:

Asian Journal of Medical Sciences, 2017, v. 8, n. 5, p. 27, doi. 10.3126/ajms.v8i5.17403

By:

Rath, Debapriya;
Rathore, Sudama;
Verma, Neha Rani;
Tirkey, Neelam B.;
Patra, Pradeep Kumar

Publication type:

Article

Investigation of mutations in the HBB gene using the 1,000 genomes database.

Published in:

PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0174637

By:

Carlice-dos-Reis, Tânia;
Cardoso, Greice de Lemos;
Guerreiro, João;
Viana, Jaime;
Moreira, Fabiano Cordeiro;
Santos, Sidney;
Ribeiro-dos-Santos, Ândrea

Publication type:

Article

In the Clinic. Sickle Cell Disease.

Published in:

Annals of Internal Medicine, 2011, v. 155, n. 5, p. ITC3-1, doi. 10.7326/0003-4819-155-5-201109060-01003

By:

Steinberg, Martin H.

Publication type:

Article

Associations of red blood corpuscle mean volume and hematocrit with severity of beta-globin gene mutations in beta-thalassemia carriers.

Published in:

Journal of School of Public Health & Institute of Public Health Research, 2011, v. 8, n. 4, p. 41

By:

Behfar, M.;
Ehsani, M. A.;
Salamati, P.;
Holakouie Naieni, K.;
Jamshidi, R.;
Derakhshandeh-Peykar, P.

Publication type:

Article

β-globin gene (XmnI) polymorphism relation to β-thalassemia patients.

Published in:

EurAsian Journal of Biosciences, 2020, v. 14, n. 2, p. 3905

By:

Ali, Nuha Shaker

Publication type:

Article

Hydroxyurea responses in clinically varied beta, HbE-beta thalassaemia and sickle cell anaemia patients of Eastern India.

Published in:

2018

By:

Chakravarty, Amit;
Chatterjee, Tridip;
Chakravarty, Sudipa

Publication type:

journal article

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

Published in:

2016

By:

Lindner, Martin;
Kunz, Joachim;
Awad, Saida;
Happich, Margit;
Muckenthaler, Lena;
Muckenthaler, Martina;
Kulozik, Andreas;
Gramer, Gwendolyn;
Okun, Jürgen;
Hoffmann, Georg;
Bruckner, Thomas;
Kunz, Joachim B;
Okun, Jürgen G;
Hoffmann, Georg F;
Muckenthaler, Martina U;
Kulozik, Andreas E

Publication type:

journal article

Assay of insulator enhancer-blocking activity with the use of transient transfection.

Published in:

Biochemistry (00062979), 2013, v. 78, n. 8, p. 895, doi. 10.1134/S0006297913080051

By:

Smirnov, N.;
Didych, D.;
Akopov, S.;
Nikolaev, L.;
Sverdlov, E.

Publication type:

Article

Different switching patterns of β-thalassaemic mutations at the proximal and distal CACCC box of the human HBB (β-globin) gene.

Published in:

British Journal of Haematology, 2016, v. 173, n. 5, p. 794, doi. 10.1111/bjh.13636

By:

Marongiu, Maria F.;
Porcu, Susanna;
Poddie, Daniela;
Drabek, Dubravka;
De Wit, Ton;
Cao, Antonio;
Ristaldi, Maria S.

Publication type:

Article

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins.

Published in:

British Journal of Haematology, 2014, v. 166, n. 3, p. 435, doi. 10.1111/bjh.12910

By:

Yang, Cheng‐Tao;
French, Anna;
Goh, Pollyanna Agnes;
Pagnamenta, Alistair;
Mettananda, Sachith;
Taylor, Jenny;
Knight, Sam;
Nathwani, Amit;
Roberts, David J.;
Watt, Suzanne M.;
Carpenter, Lee

Publication type:

Article

Prevention of Transcriptional γ-globin Gene Silencing by Inducing The Hereditary Persistence of Fetal Hemoglobin Point Mutation Using Chimeraplast-Mediated Gene Targeting.

Published in:

Cell Journal (Yakhteh), 2018, v. 20, n. 3, p. 318, doi. 10.22074/cellj.2018.5181

By:

Ranjbaran, Reza;
Zarif, Mahin Nikogoftar;
Sharifzadeh, Sedigheh;
Golafshan, Habibollah;
Pourfathollah, Ali Akbar

Publication type:

Article

Haplotipos del gen de la globina beta en portadores de hemoglobina S en Colombia.

Published in:

Biomédica: Revista del Instituto Nacional de Salud, 2012, v. 32, n. 1, p. 103

By:

Durán, Claudia Liliana;
Morales, Olga Lucía;
Echeverri, Sandra Johanna;
Isaza, Mario

Publication type:

Article

Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran.

Published in:

Genes & Genetic Systems, 2016, v. 91, n. 6, p. 311, doi. 10.1266/ggs.16-00005

By:

Aghajani, Faeghe;
Mahdavi, Mohammad Reza;
Kosaryan, Mehrnoush;
Mahdavi, Mehrad;
Hamidi, Mohaddase;
Jalali, Hossein

Publication type:

Article

High resolution melting curve analysis targeting the HBB gene mutational hotspot offers a reliable screening approach for all common as well as most of the rare beta-globin gene mutations in Bangladesh.

Published in:

BMC Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12863-017-0594-3

By:

Islam, Md Tarikul;
Sarkar, Suprovath Kumar;
Sultana, Nusrat;
Begum, Mst. Noorjahan;
Bhuyan, Golam Sarower;
Talukder, Shezote;
Muraduzzaman, A. K. M.;
Alauddin, Md;
Islam, Mohammad Sazzadul;
Biswas, Pritha Promita;
Biswas, Aparna;
Qadri, Syeda Kashfi;
Shirin, Tahmina;
Banu, Bilquis;
Sadya, Salma;
Hussain, Manzoor;
Sarwardi, Golam;
Khan, Waqar Ahmed;
Mannan, Mohammad Abdul;
Shekhar, Hossain Uddin

Publication type:

Article

Human polyomavirus and human papillomavirus prevalence and viral load in non-malignant tonsillar tissue and tonsillar carcinoma.

Published in:

Medical Microbiology & Immunology, 2017, v. 206, n. 2, p. 93, doi. 10.1007/s00430-016-0486-6

By:

Herberhold, Stephan;
Hellmich, Martin;
Panning, Marcus;
Bartok, Eva;
Silling, Steffi;
Akgül, Baki;
Wieland, Ulrike

Publication type:

Article

Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family.

Published in:

Hemoglobin, 2018, v. 42, n. 2, p. 141, doi. 10.1080/03630269.2018.1450754

By:

Godbole, Koumudi G.;
Ramachandran, Angalena;
Karkamkar, Ashwini S.;
Dalal, Ashwin B.

Publication type:

Article

A New Intergenic α -Globin Deletion ( α – α ) Found in a Kabyle Population.

Published in:

Hemoglobin, 2016, v. 40, n. 2, p. 108, doi. 10.3109/03630269.2015.1136640

By:

Rabbind Singh, Amrathlal;
Lacan, Philippe;
Cadet, Estelle;
Bignet, Patricia;
Dumesnil, Cécile;
Vannier, Jean-Pierre;
Joly, Philippe;
Rochette, Jacques

Publication type:

Article

A Novel β -Globin Chain Hemoglobin Variant, Hb Allentown [ β 137(H15)Val→Trp ( GT G> TG G) HBB : c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly.

Published in:

2016

By:

Collier III, Anderson B.;
Coon, Lea M.;
Monteleone, Philip;
Umaru, Samuel;
Swanson, Kenneth C.;
Hoyer, James D.;
Oliveira, Jennifer L.

Publication type:

Case Study

Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring ( HBA2 : c.427T > C).

Published in:

Hemoglobin, 2016, v. 40, n. 2, p. 97, doi. 10.3109/03630269.2015.1126721

By:

He, Yi;
Zhao, Ying;
Lou, Ji-Wu;
Liu, Yan-Hui;
Li, Dong-Zhi

Publication type:

Article

First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain.

Published in:

Hemoglobin, 2016, v. 40, n. 2, p. 102, doi. 10.3109/03630269.2015.1135445

By:

Farashi, Samaneh;
Rad, Fariba;
Shahmohammadi, Bahram;
Imanian, Hashem;
Azarkeivan, Azita;
Najmabadi, Hossein

Publication type:

Article

Ten Years of Routine α - and β -Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Published in:

Hemoglobin, 2016, v. 40, n. 2, p. 75, doi. 10.3109/03630269.2015.1113990

By:

Henderson, Shirley J.;
Timbs, Adele T.;
McCarthy, Janice;
Gallienne, Alice E.;
Proven, Melanie;
Rugless, Michelle J.;
Lopez, Herminio;
Eglinton, Jennifer;
Dziedzic, Dariusz;
Beardsall, Matthew;
Khalil, Mohamed S.M.;
Old, John M.

Publication type:

Article

The Effect of Nonsense Mediated Decay on Transcriptional Activity Within the Novel β -Thalassemia Mutation HBB : c.129delT.

Published in:

Hemoglobin, 2015, v. 39, n. 5, p. 334, doi. 10.3109/03630269.2015.1065270

By:

Forster, Luke;
Ardakani, Rasha Mesbah;
Qadah, Talal;
Finlayson, Jill;
Ghassemifar, Reza

Publication type:

Article

β -Thalassemia Intermedia Associated with Heterozygous and Isolate β -Globin Gene Mutation [IVS-II-1 ( HBB : c.315G>A)].

Published in:

2015

By:

Poddighe, Dimitri;
Roncoroni, Layla;
Comi, Elena V.;
Bruni, Paola

Publication type:

Case Study

Homozygosity for the AATA AA > AATA– – Polyadenylation Site Mutation on the α 2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report.

Published in:

2015

By:

Farashi, Samaneh;
Garous, Negin F.;
Ashki, Mehri;
Vakili, Shadi;
Zeinali, Fatemeh;
Imanian, Hashem;
Azarkeivan, Azita;
Giordano, Piero C.;
Najmabadi, Hossein

Publication type:

Case Study

Sudanese ( δ β ) -Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.

Published in:

2015

By:

Waye, John S.;
Eng, Barry;
Got, Tiffany;
Hanna, Meredith;
Hohenadel, Betty-Ann;
Nakamura, Lisa M.;
Walker, Lynda

Publication type:

Case Study

Optimal Manual Exchange Transfusion Protocol for Sickle Cell Disease: A Retrospective Comparison of Two Comprehensive Care Centers in the United Kingdom and Canada.

Published in:

Hemoglobin, 2015, v. 39, n. 5, p. 310, doi. 10.3109/03630269.2015.1057734

By:

Mian, Hira S.;
Ward, Richard;
Telfer, Paul;
Kaya, Banu;
Kuo, Kevin H.M.

Publication type:

Article

Identification of Two Novel β -Thalassemia Mutations ( HBB : c.335-346del and HBB : c.108 C > G) in Han Chinese.

Published in:

Hemoglobin, 2015, v. 39, n. 5, p. 359, doi. 10.3109/03630269.2015.1049703

By:

Wang, Wenjuan;
Wang, Qian;
Tao, Tingting;
Sun, Aining;
Ruan, Changgeng;
Chen, Suning

Publication type:

Article

Detection of Hb Constant Spring ( HBA2: c.427T>C) Heterozygotes in Combination with β-Thalassemia or Hb E Trait by Capillary Electrophoresis.

Published in:

Hemoglobin, 2015, v. 39, n. 3, p. 211, doi. 10.3109/03630269.2015.1027827

By:

Pornprasert, Sakorn;
Saoboontan, Supansa;
Punyamung, Manoo

Publication type:

Article

First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) ( HBB: c.92 + 6T > C) in a Chinese Family.

Published in:

Hemoglobin, 2015, v. 39, n. 3, p. 207, doi. 10.3109/03630269.2015.1027826

By:

Chen, Biyan;
Huang, Peng;
Yi, Shang;
Chen, Qiuli;
Tang, Yanqing;
Zhang, Qiang;
He, Sheng

Publication type:

Article

Description of Three New α Variants and Four New β Variants: Hb Montluel [ α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [ α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [ α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [ β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [ β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [ β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [ β29(B11)Gly → Arg; HBB: c.88G > C]

Published in:

Hemoglobin, 2015, v. 39, n. 3, p. 147, doi. 10.3109/03630269.2015.1031243

By:

Renoux, Céline;
Feray, Cécile;
Joly, Philippe;
Lacan, Philippe;
Francina, Alain

Publication type:

Article

Interaction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia.

Published in:

Hemoglobin, 2015, v. 39, n. 3, p. 201, doi. 10.3109/03630269.2015.1027914

By:

Farashi, Samaneh;
Bayat, Nooshin;
Faramarzi Garous, Negin;
Ashki, Mehri;
Montajabi Niat, Mona;
Vakili, Shadi;
Imanian, Hashem;
Zeinali, Sirous;
Najmabadi, Hossein;
Azarkeivan, Azita

Publication type:

Article

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.

Published in:

Hemoglobin, 2015, v. 39, n. 3, p. 178, doi. 10.3109/03630269.2015.1032415

By:

Shamoon, Rawand P.;
Al-Allawi, Nasir A. S.;
Cappellini, Maria D.;
Di Pierro, Elena;
Brancaleoni, Valentina;
Granata, Francesca

Publication type:

Article

Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.

Published in:

Hemoglobin, 2015, v. 39, n. 3, p. 156, doi. 10.3109/03630269.2015.1023897

By:

Muszlak, Mathias;
Pissard, Serge;
Badens, Catherine;
Chamouine, Abdourahim;
Maillard, Olivier;
Thuret, Isabelle

Publication type:

Article

Activation of nuclear inositide signalling pathways during erythropoietin therapy in low-risk MDS patients.

Published in:

Leukemia (08876924), 2012, v. 26, n. 12, p. 2474, doi. 10.1038/leu.2012.133

By:

Follo, M Y;
Mongiorgi, S;
Clissa, C;
Paolini, S;
Martinelli, G;
Martelli, A M;
Fioravanti, G;
Manzoli, L;
Finelli, C;
Cocco, L

Publication type:

Article