نتایج جستجو برای: linked dominant
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EDMD (Emery-Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2-q21.3 or emerin (EMD) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations is more common than the X-linked form and often more severe, with an earlier onset. At the histological and histochemical levels, both X-linked and autosomal dominant EDMD appear...
Demographic indicators linked to general health have been strongly linked to economic development. However, change in such indicators is also associated with other factors such as climate, water availability, and diet. Here, we use a systems modelling approach, bringing together a range of environmental, economic, dietary, and health factors, to seek possible dominant causes of demographic chan...
Mutations in presenilins are linked to familial autosomal dominant Alzheimer's disease. In this issue of Neuron, Xia et al. (2015) show that a disease-linked mutation leads to loss of γ-secretase function, cognitive decline, and neurodegeneration when knocked into the mouse genome.
Immune responsiveness of inbred mice to low doses of ovalbumin or ovomucoid is under control of single dominant genes closely linked to alleles of the H-2 locus. High responsiveness to ovomucoid is linked with the H-2(a) and H-2(k) alleles, and to ovalbumin with the H-2(b), H-2(d), and H-2(q) alleles.
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for four recessive X-linked phenotypes: mental retardation (MR) with macrocephaly, obesity, distal limb abnormalities and ciliary dysfunction [Simpson–Golabi–Behmel syndrome type 2 (SGBS2)], JS (Joubert syndrome) with polydactyly and retinal involvement (JBST10), an uncla...
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