Suchergebnisse - "Anemia, Sickle Cell genetics"

Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.

Autoren: Mbayabo, Gloire Ngole, Mamy Lumbala, Paul Kabuyi et al.

Quelle: Hematology, 28 (1), 2193770 (2023-12)

Schlagwörter: DR Congo, Sickle cell anemia, low income population, rural hospital, severity score, Fetal Hemoglobin, Male, Female, Humans, Child, Cross-Sectional Studies, Democratic Republic of the Congo/epidemiology, Fetal Hemoglobin/genetics, Anemia, Sickle Cell/epidemiology, Anemia, Sickle Cell/genetics, Anemia, Sickle Cell/complications, Anemia, Sickle Cell, Democratic Republic of the Congo, Hematology, Human health sciences, Laboratory medicine & medical technology, Sciences de la santé humaine, Médecine de laboratoire & technologie médicale

Relation: https://www.tandfonline.com/doi/pdf/10.1080/16078454.2023.2193770; urn:issn:1024-5332; urn:issn:1607-8454

Zugangs-URL: https://orbi.uliege.be/handle/2268/307834

Development of β-globin gene correction in human hematopoietic stem cells as a potential durable treatment for sickle cell disease

Autoren: Annalisa Lattanzi Joab Camarena Premanjali Lahiri et al.

Quelle: Science Translational Medicine, vol 13, iss 598
Lattanzi, A, Camarena, J, Lahiri, P, Segal, H, Srifa, W, Vakulskas, C A, Frock, R L, Kenrick, J, Lee, C, Talbott, N, Skowronski, J, Cromer, M K, Charlesworth, C T, Bak, R O, Mantri, S, Bao, G, DiGiusto, D, Tisdale, J, Wright, J F, Bhatia, N, Roncarolo, M G, Dever, D P & Porteus, M H 2021, 'Development of β-globin gene correction in human hematopoietic stem cells as a potential durable treatment for sickle cell disease', Science Translational Medicine, vol. 13, no. 598, eabf2444. https://doi.org/10.1126/scitranslmed.abf2444

Schlagwörter: 0301 basic medicine, Medical Biotechnology, EFFICIENT, beta-Globins, Regenerative Medicine, THERAPY, Medical and Health Sciences, Mice, DOUBLE-STRANDED BREAKS, Stem Cell Research - Nonembryonic - Human, Heterocyclic Compounds, Cardiovascular Medicine and Haematology, HEMOGLOBIN, CURE, Gene Editing, CRISPR-Cas Systems/genetics, Anemia, Gene Therapy, Hematology, Biological Sciences, Hematopoietic Stem Cell Mobilization, Sickle Cell, 3. Good health, Blood, Biomedical engineering, Biotechnology, EXPRESSION, Medical biotechnology, Anemia, Sickle Cell, 03 medical and health sciences, Rare Diseases, Clinical Research, Genetics, Animals, Humans, Sickle Cell Disease, Transplantation, Biomedical and Clinical Sciences, 5.2 Cellular and gene therapies, Reproducibility of Results, Stem Cell Research, Hematopoietic Stem Cells, BONE-MARROW-TRANSPLANTATION, Anemia, Sickle Cell/genetics, beta-Globins/genetics, Orphan Drug, Good Health and Well Being, PROGENITOR CELLS, CRISPR-Cas Systems, MIXED CHIMERISM

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862191
https://pubmed.ncbi.nlm.nih.gov/34135108
https://www.science.org/doi/10.1126/scitranslmed.abf2444
https://stm.sciencemag.org/content/13/598/eabf2444.abstract
https://www.ncbi.nlm.nih.gov/pubmed/34135108
https://europepmc.org/article/MED/34135108
https://pubmed.ncbi.nlm.nih.gov/34135108/
https://escholarship.org/uc/item/6295w4hd
https://escholarship.org/content/qt6295w4hd/qt6295w4hd.pdf

Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients

Autoren: Michael Y. Li David H.K. Chui Esmira Becirevic et al.

Quelle: American Journal of Hematology. 84:603-606

Schlagwörter: Male, 0301 basic medicine, Heterozygote, 0303 health sciences, Adolescent, Anemia, Beta-Globins - Genetics, 3. Good health, 03 medical and health sciences, Anemia, Sickle Cell - Genetics, Multigene Family, Hemoglobin, Sickle - Genetics, Sickle Cell - Genetics, Humans, Female, Hemoglobin, Sickle - Genetics, Child, Sequence Deletion

Zugangs-URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajh.21480
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajh.21480
https://europepmc.org/article/MED/19650141
http://hub.hku.hk/handle/10722/148611
https://www.ncbi.nlm.nih.gov/pubmed/19650141
https://onlinelibrary.wiley.com/doi/10.1002/ajh.21480
https://pubmed.ncbi.nlm.nih.gov/19650141/
http://hdl.handle.net/10722/148611

BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies

Autoren: Timofeev, N Sebastiani, P So, JCC et al.

Quelle: Blood Cells, Molecules, and Diseases. 41:255-258

Schlagwörter: 0301 basic medicine, Hemoglobinopathies - Genetics - Metabolism, Quantitative Trait Loci, Anemia, Sickle Cell, Beta-Thalassemia - Genetics - Metabolism, Polymorphism, Single Nucleotide, Asian Continental Ancestry Group - Genetics, 03 medical and health sciences, Carrier Proteins - Genetics, Asian People, Anemia, Sickle Cell - Genetics - Metabolism, Fetal Hemoglobin - Genetics - Metabolism, African Americans - Genetics, Humans, Polymorphism, Fetal Hemoglobin, Nuclear Proteins - Genetics, 0303 health sciences, beta-Thalassemia, Nuclear Proteins, Anemia, Sickle Cell - Genetics - Metabolism, Single Nucleotide, Thailand, Introns, Black or African American, Hemoglobinopathies, Repressor Proteins, Carrier Proteins

Zugangs-URL: https://europepmc.org/articles/pmc4100606?pdf=render
https://pubmed.ncbi.nlm.nih.gov/18691915
https://www.ncbi.nlm.nih.gov/pubmed/18691915
https://www.sciencedirect.com/science/article/pii/S1079979608001411
https://core.ac.uk/display/37969727
https://hub.hku.hk/handle/10722/148584
http://www.sciencedirect.com/science/article/pii/S1079979608001411
https://pubmed.ncbi.nlm.nih.gov/18691915/
http://hdl.handle.net/10722/148584

Preclinical and clinical advances in transposon-based gene therapy

Autoren: Jaitip Tipanee Yoke Chin Chai Thierry VandenDriessche et al.

Weitere Verfasser: Jaitip Tipanee Yoke Chin Chai Thierry VandenDriessche et al.

Quelle: Biosci Rep

Schlagwörter: 0301 basic medicine, Biochemistry & Molecular Biology, 3101 Biochemistry and cell biology, transposon, SLEEPING-BEAUTY-TRANSPOSON, induced pluripotent stem cells, Anemia, Sickle Cell, PHENOTYPIC CORRECTION, 0601 Biochemistry and Cell Biology, Hemophilia A, Muscular Dystrophies, TRANSGENE EXPRESSION, 03 medical and health sciences, Tol2, stem cells, Neoplasms, Sleeping Beauty, Muscular Dystrophies/genetics, SITE SELECTION, Animals, Humans, Genetic Therapy/methods, NUCLEAR POLYHEDROSIS-VIRUS, Transgenes, Review Articles, PIGGYBAC TRANSPOSON, Clinical Trials as Topic, 0303 health sciences, Mucopolysaccharidoses/genetics, Science & Technology, STABLE INTEGRATION, piggyBac, Gene Transfer Techniques, Cell Biology, Genetic Therapy, MODIFIED T-CELLS, Mucopolysaccharidoses, Neoplasms/genetics, CHIMERIC ANTIGEN RECEPTOR, MUSCULAR-DYSTROPHY, 3. Good health, Anemia, Sickle Cell/genetics, MEDIATED TRANSGENESIS, DNA Transposable Elements, EXPRESSION IN-VIVO, TYROSINEMIA TYPE-I, Hemophilia A/genetics, Life Sciences & Biomedicine, PLURIPOTENT STEM-CELLS

Zugangs-URL: https://portlandpress.com/bioscirep/article-pdf/37/6/BSR20160614/807611/bsr-2016-0614c.pdf
https://pubmed.ncbi.nlm.nih.gov/29089466
http://www.bioscirep.org/content/37/6/BSR20160614
https://researchportal.vub.be/en/publications/preclinical-and-clinical-advances-in-transposon-based-gene-therap
https://www.ncbi.nlm.nih.gov/pubmed/29089466
https://pubmed.ncbi.nlm.nih.gov/29089466/
https://portlandpress.com/bioscirep/article/37/6/BSR20160614/57599/Preclinical-and-clinical-advances-in-transposon
http://europepmc.org/articles/PMC5715130
https://biblio.vub.ac.be/vubir/preclinical-and-clinical-advances-in-transposonbased-gene-therapy(3f013fcf-6cb4-451e-b0dc-9adca5b22f0e).html

Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report.

Autoren: Gonzalez-Merino, Eric Zengbe, V Vannin, Anne-Sophie et al.

Quelle: Clinical genetics, 75 (3

Index Begriffe: Sciences bio-médicales et agricoles, Adult, Anemia, Sickle Cell -- complications, Anemia, Sickle Cell -- diagnosis, Anemia, Sickle Cell -- genetics, Embryo, Mammalian -- metabolism, Family Characteristics, Female, HIV Seropositivity -- complications, Hemoglobin, Sickle -- genetics, Humans, Male, Pregnancy, Preimplantation Diagnosis, Assisted reproductive technology, HIV, Preimplantation genetic diagnosis, Serodiscordant couple, Sickle cell disease, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/53603/3/53603.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53603
https://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

The hemoglobin E syndromes. II. Sickle-cell-hemoglobin E disease.

Autoren: AKSOY M

Quelle: Blood [Blood] 1960 May; Vol. 15, pp. 610-3.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Print ISSN: 0006-4971 (Print) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Erythrocytes, Abnormal* , Hemoglobin E* , Syndrome*, Anemia, Sickle Cell/*genetics , Hemoglobins/*genetics, Humans

[Contribution to the knowledge of Silvestroni-Bianco disease].

Autoren: VENTRUTO V DINI E QUATTRIN N

Quelle: Haematologica [Haematologica] 1961; Vol. 46, pp. 965-84.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print Cited Medium: Print ISSN: 0390-6078 (Print) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Erythroblasts*, Anemia, Sickle Cell/*genetics , beta-Thalassemia/*genetics, Humans

[Genetic data on 6 populations of the Congo Republic (ABO and Rh blood groups, and blood sickle cell levels)].

Autoren: HIERNAUX J

Quelle: Annales de la Societe belge de medecine tropicale (1920) [Ann Soc Belg Med Trop (1920)] 1962 Apr 30; Vol. 42, pp. 145-74.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Instituut voor tropische geneeskunde Country of Publication: Belgium NLM ID: 7506848 Publication Model: Print Cited Medium: Print ISSN: 0365-6527 (Print) Linking ISSN: 03656527 NLM ISO Abbreviation: Ann Soc Belg Med Trop (1920) Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Genetics, Population*, Anemia, Sickle Cell/*genetics , Blood Group Antigens/*genetics, Congo ; Humans

The wave of advance of an advantageous gene: the sickle cell gene in Liberia.

Autoren: LIVINGSTONE FB

Quelle: Human biology [Hum Biol] 1960 May; Vol. 32, pp. 197-202.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wayne State University Press Country of Publication: United States NLM ID: 0116717 Publication Model: Print Cited Medium: Print ISSN: 0018-7143 (Print) Linking ISSN: 00187143 NLM ISO Abbreviation: Hum Biol Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Chromosomes*, Anemia, Sickle Cell/*genetics, Humans ; Liberia

[Chromosome studies in some hemolytic anemias].

Autoren: BOTTURA C FERRARI I

Quelle: Acta haematologica [Acta Haematol] 1962; Vol. 28, pp. 20-4.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Karger Country of Publication: Switzerland NLM ID: 0141053 Publication Model: Print Cited Medium: Print ISSN: 0001-5792 (Print) Linking ISSN: 00015792 NLM ISO Abbreviation: Acta Haematol Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Chromosomes* , Jaundice*, Anemia, Hemolytic/*genetics , Anemia, Sickle Cell/*genetics, Humans

A focus of sickle cell gene near Bombay. Preliminary communication.

Autoren: MITAL MS PAREKH JG SUKUMARAN PK et al.

Quelle: Acta haematologica [Acta Haematol] 1962; Vol. 27, pp. 257-73.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Karger Country of Publication: Switzerland NLM ID: 0141053 Publication Model: Print Cited Medium: Print ISSN: 0001-5792 (Print) Linking ISSN: 00015792 NLM ISO Abbreviation: Acta Haematol Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Erythrocytes, Abnormal*, Anemia, Sickle Cell/*genetics, Humans

[Thalasso-drepanocytosis in a young Algerian. Genetic study of 3 generations].

Autoren: GILLOT F BIGORIE G MEDIONI B

Quelle: Pediatrie [Pediatrie] 1960; Vol. 15, pp. 202-7.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: France NLM ID: 0401127 Publication Model: Print Cited Medium: Print ISSN: 0031-4021 (Print) Linking ISSN: 00314021 NLM ISO Abbreviation: Pediatrie Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Erythrocytes, Abnormal* , Sickle Cell Trait*, Anemia, Sickle Cell/*genetics, Humans

[Observations on the distribution of Mediterranean and drepanocytic anomalies in 3 Calabrese families].

Autoren: GIGANTE D SANTAGATI U GHIONE R

Quelle: Acta geneticae medicae et gemellologiae [Acta Genet Med Gemellol (Roma)] 1960 Apr; Vol. 9, pp. 211-33.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Mendel Institute Country of Publication: Italy NLM ID: 0370314 Publication Model: Print Cited Medium: Print ISSN: 0001-5660 (Print) Linking ISSN: 00015660 NLM ISO Abbreviation: Acta Genet Med Gemellol (Roma) Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Erythroblasts*, Anemia, Sickle Cell/*genetics , beta-Thalassemia/*genetics, Humans

Data on linkage in man: ovalocytosis, sickling and the Rhesus blood group complex.

Autoren: CLARKE CA DONOHOE WT FINN R et al.

Quelle: Annals of human genetics [Ann Hum Genet] 1960 Jul; Vol. 24, pp. 283-7.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print Cited Medium: Print ISSN: 0003-4800 (Print) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Erythrocytes* , Genetic Linkage*, Anemia, Sickle Cell/*genetics , Rh-Hr Blood-Group System/*genetics, Humans ; Male

Sickle cell-haemoglobin D disease in a Portuguese child.

Autoren: ARENDS T LAYRISSE M RINCON AR

Quelle: Acta haematologica [Acta Haematol] 1959 Aug; Vol. 22, pp. 118-26.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Karger Country of Publication: Switzerland NLM ID: 0141053 Publication Model: Print Cited Medium: Print ISSN: 0001-5792 (Print) Linking ISSN: 00015792 NLM ISO Abbreviation: Acta Haematol Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Hemoglobins* , Hemoglobins, Abnormal*, Anemia, Sickle Cell/*genetics, Child ; Humans

Hemoglobin-C in an Israeli Arab family.

Autoren: MENACHEM H NEEMAN J SALOMON H

Quelle: Israel medical journal [Isr Med J] 1962 May-Jun; Vol. 21, pp. 132-8.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Israel Medical Assn Country of Publication: Israel NLM ID: 0117447 Publication Model: Print Cited Medium: Print ISSN: 0368-0150 (Print) Linking ISSN: 03680150 NLM ISO Abbreviation: Isr Med J Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Arabs* , Hemoglobin C*, Anemia, Sickle Cell/*genetics , Hemoglobins/*abnormalities, Humans

Sickle-cell trait: a family study and a report of three further cases of sickle-cell disease.

Autoren: ANSTEY L ELSTEIN M

Quelle: South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 1960 Apr 02; Vol. 34, pp. 282-4.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: South African Medical Association Country of Publication: South Africa NLM ID: 0404520 Publication Model: Print Cited Medium: Print ISSN: 0256-9574 (Print) NLM ISO Abbreviation: S Afr Med J Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Research* , Sickle Cell Trait*, Anemia, Sickle Cell/*genetics, Humans

Population dynamics of the sickle-cell trait in the Black Caribs of British Honduras, Central America.

Autoren: FIRSCHEIN IL

Quelle: American journal of human genetics [Am J Hum Genet] 1961 Jun; Vol. 13, pp. 233-54.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: OLDMEDLINE

MeSH-Schlagworte: Anemia* , Black People* , Chromosomes* , Population Dynamics* , Sickle Cell Trait*, Anemia, Sickle Cell/*genetics, Belize ; Central America ; Humans

A family with S and C hemoglobins and the hereditary persistence of F hemoglobin. A comparison of C thalassemia disease with the CF syndrome.

Autoren: SCHNEIDER RG LEVIN WC EVERETT C

Quelle: The New England journal of medicine [N Engl J Med] 1961 Dec 28; Vol. 265, pp. 1278-83.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Print ISSN: 0028-4793 (Print) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: OLDMEDLINE

MeSH-Schlagworte: Fetal Hemoglobin* , Thalassemia*, Anemia, Sickle Cell/*genetics , Hemoglobins/*abnormalities , beta-Thalassemia/*genetics, Humans