نتایج جستجو برای: cutis laxa
تعداد نتایج: 2419 فیلتر نتایج به سال:
Autosomal recessive cutis laxa type 3A is caused by mutations in ALDH18A1, a gene encoding the mitochondrial enzyme Δ(1)-pyrroline-5-carboxylate synthase (P5CS). It is a rare disorder with only six pathogenic mutations and 10 affected individuals from five families previously described in the literature. Here we report the identification of novel compound heterozygous missense mutations in two ...
[PDF] [Full Text] [Abstract] , September 1, 2002; 11 (18): 2113-2118. Hum. Mol. Genet. Paepe B. Loeys, L. Van Maldergem, G. Mortier, P. Coucke, S. Gerniers, J.-M. Naeyaert and A. De laxa Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis [PDF] [Full Text] [Abstract] , November 1, 2003; 285 (5): L1147-1152. Am J Physiol Lung Cell Mol Physiol P.-P. Kua...
A newborn male was noted to have bilateral congenital corneal opacification. Findings from examination disclosed a variety of dysmorphic features, including cutis laxa, progeroid aspect, short stature, multiple hyperextensible subluxated joints, muscular hypotonia, and hyperreflexia. Bilateral penetrating keratoplasties were performed; histopathologic examination revealed diffuse epithelial thi...
Proline metabolism is linked to hyperprolinemia, schizophrenia, cutis laxa, and cancer. In the latter case, tumor cells tend to rely on proline biosynthesis rather than salvage. Proline is synthesized from either glutamate or ornithine; both are converted to pyrroline-5-carboxylate (P5C), and then to proline via pyrroline-5-carboxylate reductases (PYCRs). Here, the role of three isozymic versio...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید