Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thalassaemia intermedia includes thalassaemias with clinical severity intermediate between asymptomatic thalassaemia minor and transfusion dependent thalassaemia major. By definition patients of thalassaemia intermedia maintain a haemoglobin level of 7-10 g/dl and do not, or only occasionally, require blood transfusion. An eight-year-old girl who was a known case of thalassaemia intermedia and had been occasionally transfused presented with fever, pain and swelling over the wrists, ankles and above the right knee joint. Radiographs showed medullary widening, cortical thinning and; multiple, recent and old, partially healed fractures of metadiaphseal regions of long bones. Her fractures have been immobilized by means of back slabs. In view of her recurrent fractures and growth retardation we advised a regular transfusion-chelation regimen to our patient to suppress her ineffective dyserythropoiesis. The treatment is expected to prevent further bone fragility and fractures, as well as improve her life quality.
 ...
PMID:Severe thalassaemia intermedia with multiple fractures: role of transfusion therapy. 2212 99

Mutations in the alpha-thalassemia mental retardation X-linked (ATRX) gene cause a spectrum of abnormalities including intellectual disability, developmental delay, seizures, and microcephaly. The ATRX protein is highly enriched at heterochromatic repetitive sequences adjacent to the centromere, and ATRX depletion results in chromosome congression, segregation, and cohesion defects. Here, we show that Cre-mediated inactivation of Atrx in the embryonic mouse (Mus musculus) brain results in expansion of cerebral cortical layer VI, and a concurrent thinning of layers II-IV. We observed increased cell cycle exit during early-mid neurogenesis, and a depletion of apical progenitors by late neurogenesis in the Atrx-null neocortex, explaining the disproportionate layering. Premature differentiation was associated with an increased generation of outer radial glia (oRG) and TBR2-expressing basal progenitors, as well as increased generation of early-born post-mitotic projection neurons. Atrx deletion also reduced the fidelity of mitotic spindle orientation in apical progenitors, where mutant cells were often oriented at non-parallel angles of division relative to the ventricular surface. We conclude that ATRX is required for correct lamination of the mouse neocortex by regulating the timing of neuroprogenitor cell differentiation.
...
PMID:ATRX is required for maintenance of the neuroprogenitor cell pool in the embryonic mouse brain. 2539 68


<< Previous 1 2