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LETTER: An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
- John C. Fyfe,
- Marilyn Menotti-Raymond,
- Victor A. David,
- Lars Brichta,
- Alejandro A. Schäffer,
- Richa Agarwala,
- William J. Murphy,
- William J. Wedemeyer,
- Brittany L. Gregory,
- Bethany G. Buzzell,
- Meghan C. Drummond,
- Brunhilde Wirth,
- and Stephen J. O'Brien
Genome Res. September 2006 16: 1084-1090; Published in Advance August 9, 2006, doi:10.1101/gr.5268806
...comparable LIX1 mutations. Nonetheless, a LIX1 -associated etiology in feline SMA implicates a previously undetected mechanism of motor neuron maintenance and mandates consideration of LIX1 as a candidate gene in human SMA when SMN1 mutations are not found. The spinal muscular atrophies (SMAs...
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REPORT: Genomic Sequence Analysis of the Mouse Naip Gene Array
- Matthew G. Endrizzi,
- Vey Hadinoto,
- Joseph D. Growney,
- Webb Miller,
- and William F. Dietrich
Genome Res. August 1, 2000 10: 1095-1102; doi:10.1101/gr.10.8.1095
...al. ( 1995 ) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80 : 167 – 178 . ↵ Scharf J.M. , Damron D. , Frisella A. , Bruno S. , Beggs A.H. , Kunkel L.M. , Dietrich W.F. ( 1996 ) The mouse region syntenic for human spinal...
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LETTER: High-resolution Genetic and Physical Map of the Lgn1 Interval in C57BL/6J Implicates Naip2 or Naip5 in Legionella pneumophila Pathogenesis
- Joseph D. Growney and
- William F. Dietrich
Genome Res. August 1, 2000 10: 1158-1171; doi:10.1101/gr.10.8.1158
...and distal borders (which are known as Naip1 and Naip2 ). The central Naip genes share such extensive homology that copies of microsatellite loci in their introns are simultaneously amplified by the same pair of primers, whereas Naip1 and Naip2 contain markers within their introns that map uniquely...
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ARTICLE: Analysis of Segmental Duplications and Genome Assembly in the Mouse
- Jeffrey A. Bailey,
- Deanna M. Church,
- Mario Ventura,
- Mariano Rocchi,
- and Evan E. Eichler
Genome Res. May 2004 14: 789-801; doi:10.1101/gr.2238404
.... A catalog of such lineage-specific genes provides a roadmap for the identification of genes important for recent innovations in immunity, drug detoxification, and reproduction ( Copley et al. 2003 ). Third, at a structural level, regions of highly homologous duplications are preferential sites of inversion...
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REVIEW: Pathological Consequences of Sequence Duplications in the Human Genome
- Richard Mazzarella and
- David Schlessinger
Genome Res. October 1, 1998 8: 1007-1021; doi:10.1101/gr.8.10.1007
....R. , Nadeau J.H. , Simard L.R. ( 1997a ) Cloning, characterization, and copy number of the murine survival motor neurone gene: Homolog of the spinal muscular atrophy-determining gene. Genome Res. 7 : 339 – 352 . ↵ DiDonato C.J. , Ingraham S.E. , Mendell J.R. , Prior T.W. , Lenard S. , Moxley R.T. , Florence J...
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PERSPECTIVE: Using Mouse Genetics to Understand Infectious Disease Pathogenesis
- William F. Dietrich
Genome Res. March 1, 2001 11: 325-331; doi:10.1101/gr.173101
.... , Kang X. , et al. ( 1995 ) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80 : 167 – 178 . ↵ Sampson I.A. ( 1988 ) Prevalence of antibody to Legionella pneumophila in Aborigines and non-Aborigines in Western Australia. Med. J...

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