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SACS
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 14718707 |
The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation. |
| 16606928 |
Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation in a new exon of the SACS gene. |
| 15985586 |
The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene. |
| 14718706 |
The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS |
| 15156359 |
analysis of SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay families |
| 14718708 |
A homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) was identified in two sibling Japanese early onset spastic ataxia patients |
| 17290461 |
report of Japanese siblings with a new missense mutation (C922T, L308F) in exon 7 of SACS |
| 16198375 |
The authors report here identical twin sisters with novel compound heterozygous mutations (c.[2951_2952delAG]+[3922delT]) in the SACS gene. |
| 11788093 |
Report of a reliable and inexpensive method to detect more than 95% of the ARSACS disease alleles. |
Recent Publications on SACS: |  |
[Perioperative antibiotics effectiveness on conjunctival flora and microbial sensitivity]
PURPOSE: To compare the affect upon bacterial flora found in the... | 4th November, 2009
| Department of Clinical Neuroscience, Visual Function and Science,
| Nippon Ganka Gakkai Zasshi. 2009 Sep;113(9):906-12.
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Polycystin-1 and -2 dosage regulates pressure sensing.
Autosomal-dominant polycystic kidney disease, the most frequent monogenic... | 3rd November, 2009
| Institut de Pharmacologie Moleculaire et Cellulaire, UMR CNRS 6097,
| Cell. 2009 Oct 30;139(3):587-96.
DOI Direct Link |
Inflammation-Induced Preterm Birth in a Murine Model is Associated with Increases in Fetal Macrophages and Circulating Erythroid Precursors.
Abstract Objectives: The presence of intrauterine inflammation has been... | 30th October, 2009
| 1 Northwestern University, Chicago Campus.
| Pediatr Dev Pathol. 2009 Sep 30.
DOI Direct Link |
Ingestion of potato starch containing high levels of esterified phosphorus reduces calcium and magnesium absorption and their femoral retention in rats.
Many studies have shown that esterified phosphorus (P) in diets has a... | 27th October, 2009
| Faculty of Human Science, Hokkaido Bunkyo University, Eniwa, Hokkaido
| Nutr Res. 2009 Sep;29(9):648-55.
DOI Direct Link |
Spinal dysraphisms of the cervicothoracic region in childhood.
PURPOSE: Spinal dysraphisms are the most common congenital anomalies of... | 23rd October, 2009
| Haydarpasa Numune Research and Educational Hospital, Clinic of
| Turk Neurosurg. 2009 Oct;19(4):400-5.
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→View more research publications. |
SACS results (if any) from reagent suppliers | 
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FOXC2 antibody - ChIP Grade (ab5060) | Abcam
The antibody labels FOXC2 in mouse lymphatic primordia, jugular lymph sacs, lymphatic collectors and capillaries. In western blotting the antibody has been
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http://www.abcam.com/FOXC2-antibody-ChIP-Grade-ab5060.html...
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COL1A1 (C-18) Antibody sc-8784
Evaluation of extracellular matrix protein composition in sacs associated with undescended testis, hydrocele, inguinal hernia, and peritoneum. Urology. ...
http://www.scbt.com/datasheet-8784-col1a1-c-18-antibody.html...
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GM130 antibody (ab32337) | Abcam
... in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs).
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http://www.abcam.com/GM130-antibody-ab32337.html...
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Sacsin Antibody / Sacsin Antibodies
PRODUCT NAME, CATALOG #, ISOTYPE, EPITOPE, APPLICATIONS, SPECIES. Sacsin (C-17) Antibody, sc-49721, goat IgG, C-terminus (h), WB, IF, ELISA, m, r, h ...
http://www.scbt.com/table-sacsin.html...
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Granulocytes antibody [HIS48] (ab33760) | Abcam
Granulocytes are a type of white blood cell filled with microscopic granules that are little sacs containing enzymes, compounds that digest microorganisms.
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http://www.abcam.com/Granulocytes-antibody-HIS48-ab33760.htm...
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Probes for the Endoplasmic Reticulum and Golgi Apparatus—Section 12.4
In both live and fixed cells, the flattened membranous sacs of the ER and the Golgi apparatus can be stained with a variety of lipophilic probes and then ...
http://www.invitrogen.com/site/us/en/home/References/Molecul...
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Sacsin (N-18) Antibody sc-49724
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, SACS, 26278, 13q12.12, NM_014363 ...
http://www.scbt.com/ko/datasheet-49724-sacsin-n-18-antibody....
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