نتایج جستجو برای: pmp22

تعداد نتایج: 356  

Journal: :Neural Regeneration Research 2021

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...

Journal: :Harefuah 1989
Justyna Paprocka Maciej Kajor Ewa Jamroz Aleksandra Jezela-Stanek Pavel Seeman Elzbieta Marszał

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.

Journal: :Molecular Neurobiology 2012

2016
Ruthala Kalyani Ji-Yeon Lee Hyehyun Min Heejei Yoon Myoung Hee Kim

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

Journal: :Acta biochimica Polonica 2004
Andrzej Kochański Dagmara Kabzińska

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...

Journal: :genetics in the 3rd millennium 0
raheleh vazehan zohreh fattahi mahsa fadaee elham parsimehr mehrshid faraji mona montajebiniat

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...

2016
Alexander U Brandt Elena Meinert-Bohn Jan Leo Rinnenthal Hanna Zimmermann Janine Mikolajczak Timm Oberwahrenbrock Sebastian Papazoglou Caspar F Pfüller Johann Schinzel Björn Tackenberg Friedemann Paul Katrin Hahn Judith Bellmann-Strobl

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...

2011
Jonathan Baets Tine Deconinck Els De Vriendt Magdalena Zimoń Laetitia Yperzeele Kim Van Hoorenbeeck Kristien Peeters Ronen Spiegel Yesim Parman Berten Ceulemans Patrick Van Bogaert Adolf Pou-Serradell Günther Bernert Argirios Dinopoulos Michaela Auer-Grumbach Satu-Leena Sallinen Gian Maria Fabrizi Fernand Pauly Peter Van den Bergh Birdal Bilir Esra Battaloglu Ricardo E. Madrid Dagmara Kabzińska Andrzej Kochanski Haluk Topaloglu Geoffrey Miller Albena Jordanova Vincent Timmerman Peter De Jonghe

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...

جمالی , سمیه, جوادی , غلام رضا, حیات نوسعید, مینا, مسروری, ناصر, مهدیان, رضا, هاشمی, مهرداد, کامیاب , احمدرضا, کریمی پور, مرتضی,

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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