نتایج جستجو برای: pmp22
تعداد نتایج: 356 فیلتر نتایج به سال:
It was hypothesized that mesenchymal stem cells (MSCs) could provide necessary trophic factors when seeded onto the surfaces of commonly used nerve graft substitutes. We aimed to determine gene expression MSCs influenced by Avance® Nerve Grafts or NeuraGen® Guides. Human adipose-derived were cultured and dynamically 30 Guides for 12 hours. At six time points after seeding, quantitative polymera...
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease with sensory and motor nerve palsies usually precipitated by trivial trauma or compression. In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.
The subnetwork of Hoxc8 and its neighboring genes. The genes coexpressed with Hoxc8 were analyzed using the Ingenuity Pathway Analysis tool. Hoxc8 is a node of the subnetwork comprising Fzd2, Adam19, Ly6a, Pmp22, Serpinf1, and Pbx1. The collagen family genes are the neighboring genes
To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM# 605253]. In the present study we report two cases of de novo S72L mutations in the PMP22 gene detected in patients of Polish origin suffering fr...
charcot-marie-tooth disease (cmt) is the most common inherited neurological disorder, affecting both motor and sensory peripheral nerves. neurophysiological patterns divide cmt into three main groups: demyelinating cmt1 (upper limb motor nerve conduction velocity (mncv) <38 m/s), axonal cmt2 (mncv >38 m/s) and intermediate cmt (mncv 25-45 m/s). cmt has been also categorized based on the mode of...
BACKGROUND The PMP22 gene encodes a protein integral to peripheral myelin. Its deletion leads to hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 is not expressed in the adult central nervous system, but previous studies suggest a role in CNS myelin development. The objective of this study was to identify potential structural and functional alterations in the afferent visu...
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are kn...
سابقه و هدف: پیشگیری از تولد بیماران مبتلا به سندرم داون (تریزومی 21) از اولویت های وزارت بهداشت می باشد. هدف این مطالعه، تشخیص سریع بیماران مبتلا به سندرم داون با استفاده از تکنیک Real-time PCR کمی به منظور پایه گذاری روشی جدید برای تشخیص قبل از تولد است.روش بررسی: در این مطالعه تجربی، ابتدا از افراد مورد مطالعه نمونه خون گرفته شد. پس از استخراج DNA ژنومی، میزان ژن DYRK1A2 در لنفوسیت های افراد...
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