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Transcriptomicscontrol vs. Th3 beta thalassemia kidney
a comparison of a control and a mutant condition (Th3) of the Hemoglobin Beta major and minor chain, used as Beta Thalassemia mouse model. 4 controls and 4 mutants
ORGANISM(S): Mus musculus 
2012-03-07 | E-GEOD-36312 | biostudies-arrayexpress
ProteomicsIdentification of a rare Asian Indian Deletion [Gγ(Aγδβ)0] Delta-Beta Thalassemia using High Resolution Mass Spectrometry
Delta-Beta thalassemia is an unusual variant of thalassemia caused by large deletions in the β globin gene cluster involving δ- and β-globin genes. The mutations are characterized by high fetal hemoglobin with significant phenotypic diversity. Routinely used diagnostic tests targeting point mutation...
ORGANISM(S): Homo sapiens (Human) 
2024-08-09 | PXD044775 | Pride
Delta beta thalassemia Hemoglobinopathies Hplc Globin Lc-ms/ms 
TranscriptomicsGenotyping of human thalassemia patients reveals that the evolution of human beta-thalassemia major from minor is associated with paternal uniparental isodisomy of chromosome 11p15
β-thalassemia major can be caused by homozygous mutations of the HBB gene, most of the cases are inherited from parents who both have β-thalassemia minor. Herein, we show that a mosaic paternal uniparental isodisomy of chromosome 11p14.3-15.5 is associated with β-thalassemia major in a patient wi...
ORGANISM(S): Homo sapiens 
2008-06-15 | E-GEOD-7847 | biostudies-arrayexpress
UnknownUnravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Not available
S-EPMC10886608 | biostudies-literature
GenomicsConfirmation of a founder effect in a Northern European population (FRL) of a new beta-globin variant: HBB:c.23 26dup (codons 8/9 (+AGAA))
Beta-thalassemia is a genetic disease caused by a defect in the production of the beta-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of 4 nucleotid...
EGAS00001000980 | EGA
TranscriptomicsTherapeutic globin expression in thalassemia patient induced pluripotent stem cells from genomic safe harbors
The advent of human induced pluripotent stem (iPS) cells enables for the first time the derivation of unlimited numbers of patient-specific stem cells and holds great promise for regenerative medicine. However, realizing the full potential of iPS cells requires robust, precise and safe strategies fo...
ORGANISM(S): Homo sapiens 
2010-10-26 | E-GEOD-24901 | biostudies-arrayexpress
TranscriptomicsNeonatal beta cells lack the specialized metabolic phenotype of mature beta cells
Fetal and neonatal beta cells have poor glucose-induced insulin secretion and only gain robust glucose responsiveness several weeks after birth. This unresponsiveness may be due to a generalized immaturity of the metabolic pathways normally found in beta cells. Gene expression profile of neonatal (1...
ORGANISM(S): Rattus norvegicus 
2011-02-22 | E-GEOD-24790 | biostudies-arrayexpress
UnknownFirst report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia.
Not available
S-EPMC7676206 | biostudies-literature
UnknownMolecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia.
Not available
S-EPMC12480163 | biostudies-literature
TranscriptomicsNova1 is a master regulator of alternative splicing in pancreatic beta cells
Alternative splicing (AS) is a fundamental mechanism for the regulation of gene expression. It affects more than 90% of human genes but its role in the regulation of pancreatic beta cells, the producers of insulin, remains unknown. Our recently published data indicated that the M-bM-^@M-^\neuron spe...
ORGANISM(S): Rattus norvegicus 
2014-10-01 | E-GEOD-59633 | biostudies-arrayexpress
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