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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

SAMD1  -  sterile alpha motif domain containing 1

Homo sapiens

Synonyms: Atherin, SAM domain-containing protein 1, Sterile alpha motif domain-containing protein 1
 
 
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Disease relevance of SAMD1

  • HACS1 is a Src homology 3 and sterile alpha motif domain-containing adaptor that is preferentially expressed in normal hematopoietic tissues and malignancies including myeloid leukemia, lymphoma, and myeloma [1].
  • We evaluated 17 children with primary intracranial neoplasms for subarachnoid metastatic disease (SAMD) using myelography with computed tomographic follow-up (Myelo + CT) and cerebrospinal fluid (CSF) histopathologic examination, as well as magnetic resonance imaging with gadolinium DTPA (MRI + Gd), between December 1988 and December 1989 [2].
  • Application of our protocol to 124 individuals at risk for SAMD led to the diagnosis of five affected patients, two with type I sialidosis, one with type II sialidosis, and two with galactosialidosis [3].
 

High impact information on SAMD1

  • In the present study, we describe the application of a 3-step protocol for the diagnosis of SAMD, including (1). oligosaccharide and sialyloligosaccharide chromatography; (2). quantitative determination of sialic acid; and (3). measurement of neuraminidase activity [3].
 

Analytical, diagnostic and therapeutic context of SAMD1

  • A. Arthur's (1995) sample adjusted meta-analytic deviancy (SAMD) statistic for identifying outliers in correlational meta-analyses results in inaccuracies in mean r [4].

References

  1. The SH3-SAM adaptor HACS1 is up-regulated in B cell activation signaling cascades. Zhu, Y.X., Benn, S., Li, Z.H., Wei, E., Masih-Khan, E., Trieu, Y., Bali, M., McGlade, C.J., Claudio, J.O., Stewart, A.K. J. Exp. Med. (2004) [Pubmed]
  2. Comparison of myelography with CT follow-up versus gadolinium MRI for subarachnoid metastatic disease in children. Kramer, E.D., Rafto, S., Packer, R.J., Zimmerman, R.A. Neurology (1991) [Pubmed]
  3. Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients. Castilhos, C.D., Mello, A.S., Burin, M.G., Guidobono, R.R., Gotardo, S., Giugliani, R., Coelho, J.C. Am. J. Med. Genet. A (2003) [Pubmed]
  4. On the bias of Huffcutt and Arthur's (1995) procedure for identifying outliers in the meta-analysis of correlations. Beal, D.J., Corey, D.M., Dunlap, W.P. The Journal of applied psychology. (2002) [Pubmed]
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