34 research outputs found
Endogenous ABA concentration and cytoplasmic membrane fluidity in microspores of oilseed rape (Brassica napus L.) genotypes differing in responsiveness to androgenesis induction
EFFECT OF LOW-TEMPERATURE UPON LIPID AND FATTY-ACID COMPOSITION OF ROOTS AND LEAVES OF WINTER RAPE PLANTS
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene.
We analyzed erythrocyte glycoconjugates in two families with congenital dyserythropoietic anemia
type II (CDA-II): family 2 with the typical localization of the disease gene to chromosome 20q11.2 and family 1 in which this localization was excluded.
Despite the different genetics, the erythrocyte glycoconjugate abnormalities in the two families
were identical suggesting a complex inheritance of CDA-II. We also found that erythrocyte anion exchanger 1 protein is decreased in CDA-II
homozygotes and obligate carriers alike
Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene
We analyzed erythrocyte glycoconjugates in two families with congenital dyserythropoietic anemia
type II (CDA-II): family 2 with the typical localization of the disease gene to chromosome 20q11.2 and family 1 in which this localization was excluded.
Despite the different genetics, the erythrocyte glycoconjugate abnormalities in the two families
were identical suggesting a complex inheritance of CDA-II. We also found that erythrocyte anion exchanger 1 protein is decreased in CDA-II
homozygotes and obligate carriers alike
Effets des urees substituees sur les oxydations phosphorylantes des mitochondries de tubercules de pomme de terre (Solanum tuberosum L.): comparaison avec I'action sur liposomes
Temperature-dependent translational regulation of the ER omega-3 fatty acid desaturase gene in wheat root tips
Frequency of congenital dyserythropoietic anemias in Europe.
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective
erythropoiesis and striking abnormalities of erythroblast morphology. The mutated genes are known for
the most frequent types, CDA I and II, but data about their frequency do not exist. The objective of this
retrospective study was to estimate the frequency of CDA I and II, based on all cases reported in the last
42 yr in publications and identified registries or surveys. Reports were collected of 124 and 377 confirmed
cases of CDA I and CDA II cases, respectively. The cumulated incidence of both types combined varied
widely between European regions, with minimal values of 0.08 cases ⁄ million in Scandinavia and
2.60 cases ⁄ million in Italy. CDA II is more frequent than CDA I, with an overall ratio of approximately 3.2,
but the ratio also varied between different regions. The most likely explanations for the differences are
both differences in the availability of advanced diagnostic procedures and different levels of the awareness
for the diagnosis of the CDAs. The estimations reported here are most probably below the true incidence
rates, because of failure to make the correct diagnosis and to underreporting. Limited data do not suggest
differing levels of risk in identified ethnic groups