Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Duplicate lots of 150 Atlantic salmon (Salmo salar), average weight 0.5 g, were fed NRC diet H-440 base containing L-ascorbic acid (C1) or L-ascorbyl-2-sulfate (C2S); or L-ascorbyl-2-monophosphate (C2MP): at 0 or 100 mg C1; 50, 100, 300 mg C2S; or 50, 100 mg C2MP per kg dry diet in 12 degrees C freshwater tanks. After 12 weeks, negative controls (no vitamin C) exhibited reduced growth, scoliosis, lordosis, and petechial hemorrhages typical of fish scurvy. All other lots grew normally. Four 100-fish lots of scorbutic salmon, average weight 3.3 g, were placed on recovery diets of 0, 50, or 300 mg C2S, or 100 mg C2MP per kg dry diet. After 5 weeks, fish fed either level of C2S intake had recovered and resumed growth. Negative controls continued to develop acute scurvy. The 41 survivors in this no-vitamin-C group all had advanced scurvy, whereas all fish in both C2S-fed recovery groups appeared normal. Tissue assays for C vitamers disclosed normal levels of C1 and C2S in the recovery groups. All other test treatment lots containing C1, C2S, or C2MP had fish with normal appearance and no significant differences in growth response for the 17-week test period. C2S at 50 mg or more per kg diet as the sole vitamin C source promoted normal growth in young Atlantic salmon for more than 20-fold increase in weight.
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PMID:L-ascorbyl-2-sulfate alleviates Atlantic salmon scurvy. 807 52

Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. Among the seven mutations, four were nonsense mutations (Del 5' UTR and exon 1, p.P245RfsX3, p.S303AfsX20, and p.W125X), and three were missense mutations (p.R300C, p.R300H, and p.P299L) responsible for the change of conserved amino acids located in the seventh nucleotidase conserved region (NRC). The arginine substitution at position 300 was identified in five out of nine families. The specific function of CANT1 is as yet unknown, but its substrates are involved in several major signaling functions, including Ca2+ release, through activation of pyrimidinergic signaling. Importantly, using RT-PCR analysis, we observed a specific expression in chondrocytes. We also found electron-dense material within distended rough endoplasmic reticulum in the fibroblasts of Desbuquois patients. Our findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process.
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PMID:Identification of CANT1 mutations in Desbuquois dysplasia. 1985 39