Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50502 (Hip)
 7,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Mutations affecting the pro alpha 1(I) or pro alpha 2(I) collagen genes have been identified in each of the major clinical types of osteogenesis imperfecta. This study reports the presence of a heritable connective tissue disorder in a family with an osteopenic syndrome which has features of mild osteogenesis imperfecta but was considered idiopathic osteoporosis in the proband. At age 38, while still premenopausal, she was found to have osteopenia, short stature, hypermobile joints, mild hyperelastic skin, mild scoliosis, and blue sclerae. There was no history of vertebral or appendicular fracture. Hip and vertebral bone mineral density measurements were consistent with marked fracture risk. Delayed reduction SDS-PAGE of pepsin-digested collagens from dermal fibroblast cultures demonstrated an anomalous band migrating between alpha 1(I) and alpha 1(III). This band merged with the normal alpha-chains upon prereduction, indicating an unexpected cysteine residue. Cyanogen bromide peptide mapping suggested that the mutation was in the smaller NH2-terminal peptides. cDNA was reverse transcribed from mRNA and amplified by the polymerase chain reaction. A basepair mismatch between proband and control alpha 1(I) cDNA hybrids was detected by chemical cleavage with hydroxylamine:piperidine. The cysteine substitution was thus localized to alpha 1(I) exon 9 within the cyanogen bromide 4 peptide. Nucleotide sequence analysis localized a G----T point mutation in the first position of helical codon 43, replacing the expected glycine (GGT) residue with a cysteine (TGT). The prevalence of similar NH2-terminal mutations in subjects with this phenotype which clinically overlaps idiopathic osteoporosis remains to be determined.
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PMID:An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. 173 47

A sensitive and rapid method was developed for angiotensin-converting enzyme (ACE) activity determination by micellar electrokinetic capillary chromatography (MECC). MECC was carried out to separate and quantify the products of the enzymatic reacting using Hip-Leu-His as the substrate in 20 mmol/L boric acid-borate buffer (pH 9.0) including 50 mmol/L SDS as the run buffer at an applied voltage of 8.1 kV. The electrophoresis was monitored at 228 nm, and completed in 6 minutes. The detection limits of ACE activity was 5 pmol/min(signal to noise ratio was 2).
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PMID:[Determination of angiotensin-converting enzyme activity by micellar electrokinetic capillary chromatography]. 1254 50

The platelet surface is a dynamic interface that changes rapidly in response to stimuli to co-ordinate the formation of thrombi at sites of vascular injury. Tight control is essential as loss of organisation may result in the inappropriate formation of thrombi (thrombosis) or excessive bleeding. In this paper we describe the comparative analysis of resting and thrombin-stimulated platelet membrane proteomes and associated proteins to identify proteins important to platelet function. Surface proteins were labelled using a biotin tag and isolated by NeurtrAvidin affinity chromatography. Liquid phase IEF and SDS-PAGE were used to separate proteins, and bands of increased intensity in the stimulated platelet fractions were digested and identified by FT-ICR mass spectrometry. Novel proteins were identified along with proteins known to be translocated to the platelet surface. Furthermore, many platelet proteins revealed changes in location associated with function, including G6B and Hip-55. HIP-55 is an SH3-binding protein important in T-cell receptor signalling. Further analysis of HIP-55 revealed that this adaptor protein becomes increasingly associated with both Syk and integrin beta3 upon platelet activation. Analysis of HIP-55 deficient platelets revealed reduced fibrinogen binding upon thrombin stimulation, suggesting HIP-55 to be an important regulator of platelet function.
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PMID:Proteomic analysis of resting and thrombin-stimulated platelets reveals the translocation and functional relevance of HIP-55 in platelets. 1972 75

Our investigation aimed to utilize physiological attributes and molecular tools for distinguishing the toxic strain of Microcystis from other non toxic strains, belonging to the same genus. Physiological characterization of five Microcystis isolates indicated that the toxic strain (M1) exhibited significantly higher pigment accumulation (phycocyanin: 54.20 microg ml(-1); allophycocyanin: 18.2 microg ml(-1)) and sugar content (74.25 microg ml(-1)), which may be providing a competitive advantage for successful colonization and proliferation. Profiling using repeat sequence primers (STRR, Hip) was helpful in distinguishing different strains (M1-M5) and HIP TG profile was unique to M1. SDS-PAGE profile of the five strains indicated the presence of a unique band (25kDa) in M1. The combined use of SDS-PAGE and HipTG profiles can help in providing distinct fingerprint for the toxic strain, which can be useful in its identification.
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PMID:Physiological characterization and molecular profiling of toxic and non-toxic isolates of cyanobacterium Microcystis. 2461 41