INT129736

Context Info Confidence 0.14 First Reported 2005 Last Reported 2005 Negated 0 Speculated 0 Reported most in Abstract Documents 1 Total Number 1 Disease Relevance 1.28 Pain Relevance 0.08

plasma membrane (Casr) signal transducer activity (Casr)

Casr (Rattus norvegicus)

Pain Link Frequency Relevance Heat abdominal pain 1 79.76

Disease Link Frequency Relevance Heat Convulsion 2 92.24 Kidney Stones 7 91.28 Calcification 1 85.76 Nephrocalcinosis 2 84.16 Hypocalcemia 4 82.12 Abdominal Pain 1 79.76 Hypomagnesemia 1 76.56 Syndrome 1 59.68

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

DNA sequence analysis, identified a mutation in exon 3, codon 129 (TGC-->TAC) of the CaSR gene of seven affected family members, resulting in loss of a conserved cysteine residue, potentially disrupting CaSR receptor dimerisation.

Negative_regulation (disrupting) of CaSR

1) Confidence 0.14 Published 2005 Journal J. Pediatr. Endocrinol. Metab. Section Abstract Doc Link 16128246 Disease Relevance 1.28 Pain Relevance 0.08

General Comments

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