✦ LIBER ✦

Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II

✍ Scribed by Mandich, Paola; Bellone, Emilia; Di Maria, Emilio; Pigullo, Simona; Pizzuti, Antonio; Schenone, Angelo; Soriani, Silvia; Varese, Alessandra; Windebank, Anthony J.; Ajmar, Franco

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 4 KB
Volume: 83
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990423)83:5<409::aid-ajmg13>3.0.co;2-s

No coin nor oath required. For personal study only.

✦ Synopsis

Ninjurin is a protein that is up-regulated in Schwann cells and neurons after peripheral nerve injury. Its role in promoting nerve regeneration and its expression in sensory neurons of dorsal root ganglia, as well as the chromosomal localization of the ninjurin gene, makes this gene a candidate for hereditary sensory neuropathies (HSN). In the present report, the human ninjurin gene was analyzed in 17 unrelated patients with HSN type I, two patients with HSN type II, and 10 normal controls, by single strand conformation polymorphism and by direct sequencing. All three exons and splice junctions of the gene were investigated and no mutations were found in our sample of patients. Our results rule out a mutation in the translated region of the ninjurin gene as a cause of HSN type I and type II. Am.

📜 SIMILAR VOLUMES

Exclusion of BMP6 as a candidate gene fo

Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia

✍ Innis, Jeffrey W.; Asher,, James H.; Liang, Yong; Wang, Aihui; Wilke, Charles M. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and exclude the bone morphogenetic protein 6 gene (BMP6) as a candidate for the diseas

Typee

✍ Hermann Melville 📂 Fiction 🌐 English ⚖ 203 KB 👁 1 views

Typee

📂 Fiction 🏛 Editorial: Pingüino 🌐 Spanish ⚖ 190 KB 👁 1 views

Melville abandonó el barco Acushnet en las Islas Marquesas en julio de 1842. Por tres semanas vivió entre los naturales de Typee, que considerados caníbales por los dos otros grupos tribales de la isla, aunque trataron a Melville muy bien. Su libro Typee describe un breve asunto del amor con una muc

Typee

✍ Herman Melville 📂 Fiction 📅 1846 🌐 Spanish ⚖ 191 KB 👁 1 views

Melville abandonó el barco Acushnet en las Islas Marquesas en julio de 1842. Por tres semanas vivió entre los naturales de Typee, que eran considerados caníbales por los dos otros grupos tribales de la isla, aunque trataron a Melville muy bien. Su libro Typee describe un breve asunto del amor con un

Typee

✍ Herman Melville 📂 Fiction 📅 2011 🌐 Spanish ⚖ 189 KB 👁 1 views

Typee

✍ Melville, Helman 📂 Fiction 📅 2009 🌐 Spanish ⚖ 198 KB 👁 1 views