کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9414516 | 1613445 | 2005 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis
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کلمات کلیدی
MBSGene expression pattern analysisNVInVIIEDTA - اتیلن دی آمین تترا استیک اسید Ethylenediaminetetraacetic acid - اتیلینیدامین تتراستیک اسیدDevelopmental disorders - اختلالات رشدیDisorders of the nervous system - اختلالات سیستم عصبیMutational analysis - تجزیه و تحلیل موتادیMobius syndrome - سندرم موبیوسAbducens nerve - عصب خفیفFacial nerve - عصب صورتpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازFacial paresis - پریس صورت
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis](/preview/png/9414516.png)
چکیده انگلیسی
Hereditary congenital facial paresis is a rare autosomal dominantly inherited disorder, in which pathological changes in the brainstem affect the paired facial nuclei and nerves. Previously, the neuropilin-1 protein has been shown to control axon guidance and cell body position of facial motor neurons, and mice with a targeted disruption of neuropilin-1 present with developmental defects of the facial nerve nuclei. Plexin-A1 can function as a signal transducing subunit for the neuronal neuropilin receptor, and its gene is located in the linkage interval for hereditary congenital facial paresis at chromosome 3q21-q22 (MIM601471), making it an excellent candidate gene for this disorder. During mouse embryogenesis, the murine ortholog of plexin-A1 gene showed restricted spatial and temporal expression in the hindbrain, consistent with a role in cell body movement, or axonal guidance during facial nerve development. Sequence analysis of the plexin-A1 gene in patients from the 3q21-q22-linked hereditary congenital facial paresis family revealed several nucleotide changes. However, none of the nucleotide changes led to an amino acid substitution, and reverse transcriptase polymerase chain reaction analysis did not detect aberrant RNA processing. We therefore conclude that it is highly unlikely that Plexin-A1 is involved in the pathogenicity of hereditary congenital facial paresis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Developmental Brain Research - Volume 158, Issues 1â2, 8 August 2005, Pages 66-71
Journal: Developmental Brain Research - Volume 158, Issues 1â2, 8 August 2005, Pages 66-71
نویسندگان
Bert van der Zwaag, J. Peter H. Burbach, Han G. Brunner, Hans van Bokhoven, George W. Padberg,