Assignment of the mouse homologue of a human MEN1 candidate gene, phospholipase C-β3 (Plcb3), to chromosome region 19B by FISH

1995 ◽  
Vol 71 (3) ◽  
pp. 257-259 ◽  
Author(s):  
A.E. Gobi ◽  
B.P. Chowdhary ◽  
W. Shu ◽  
L. Eriksson ◽  
C. Larsson ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Phospholipase C ◽  
Chromosome Region ◽  
Mouse Homologue ◽  
Phospholipase C Beta 3

IS LGI2 THE CANDIDATE GENE FOR PARTIAL EPILEPSY WITH PERICENTRAL SPIKES?

2010 ◽  
Vol 08 (01) ◽  
pp. 117-127 ◽  
Author(s):  
VACHIRANEE LIMVIPHUVADH ◽  
LING LING CHUA ◽  
FRANK EISENHABER ◽  
SHARMILA ADHIKARI ◽  
SEBASTIAN MAURER-STROH
Keyword(s):  
Candidate Gene ◽  
Chromosome Region ◽  
Partial Epilepsy ◽  
Disease Locus ◽  
Patient Specific ◽  
Protein Sequence Analysis ◽  
Disease Mechanism ◽  
Causative Gene ◽  
Temporal Epilepsy ◽  
Lateral Temporal Epilepsy

Partial epilepsy with pericentral spikes (PEPS) is a familial epilepsy with disease locus mapped to human chromosome region 4p15; yet, the causative gene is unknown. In this work, arguments based on protein sequence analysis and patient-specific chromosomal deletions are provided for LGI2 as the prime candidate gene for PEPS among the 52 genes known at the genome locus 4p15. Furthermore, we suggest that two reports of patients that were not classified as PEPS but show very similar phenotypes and deletions in the PEPS disease locus, could in fact describe the same disease. To test this hypothesis, patients with diagnosed PEPS or the described similar phenotypes could be screened for mutations in LGI2 and other shortlisted candidate genes. The linkage between PEPS and its disease causing gene(s) would allow diagnosis of the disease based on genetic screening as well as hereditary studies. Furthermore, previous knowledge on molecular disease mechanisms of related LGI proteins, for example LGI1 and autosomal dominant lateral temporal epilepsy, could be applied to deepen the understanding of the PEPS disease mechanism at the molecular level, which may facilitate therapeutic intervention in the future. Supplementary Table is available at .

scholarly journals phospholipase C, beta 3 is required for Endothelin1 regulation of pharyngeal arch patterning in zebrafish

2007 ◽  
Vol 304 (1) ◽  
pp. 194-207 ◽  
Author(s):  
Macie B. Walker ◽  
Craig T. Miller ◽  
Mary E. Swartz ◽  
Johann K. Eberhart ◽  
Charles B. Kimmel
Keyword(s):  
Phospholipase C ◽  
Pharyngeal Arch ◽  
Phospholipase C Beta 3

scholarly journals Cloning, sequencing, purification, and Gq-dependent activation of phospholipase C-beta 3.

1993 ◽  
Vol 268 (9) ◽  
pp. 6654-6661
Author(s):  
D.Y. Jhon ◽  
H.H. Lee ◽  
D. Park ◽  
C.W. Lee ◽  
K.H. Lee ◽  
...  
Keyword(s):  
Phospholipase C ◽  
Phospholipase C Beta 3

scholarly journals Genetic alteration of phospholipase C beta 3 expression modulates behavioral and cellular responses to   opioids

1999 ◽  
Vol 96 (18) ◽  
pp. 10385-10390 ◽  
Author(s):  
W. Xie ◽  
G. M. Samoriski ◽  
J. P. McLaughlin ◽  
V. A. Romoser ◽  
A. Smrcka ◽  
...  
Keyword(s):  
Phospholipase C ◽  
Cellular Responses ◽  
Genetic Alteration ◽  
Phospholipase C Beta 3

Sequence and Expression of the Mouse Homologue to Human Phospholipase C β3 Neighboring Gene

1996 ◽  
Vol 223 (2) ◽  
pp. 335-340 ◽  
Author(s):  
Jacob Lagercrantz ◽  
Darek Kedra ◽  
Emma Carson ◽  
Magnus Nordenskjöld ◽  
Jan P. Dumanski ◽  
...  
Keyword(s):  
Phospholipase C ◽  
Neighboring Gene ◽  
Mouse Homologue

Inositol lipids and TRPC channel activation

2007 ◽  
Vol 74 ◽  
pp. 37-45 ◽  
Author(s):  
James W. Putney
Keyword(s):  
Plasma Membrane ◽  
Phospholipase C ◽  
Transient Receptor Potential ◽  
Calcium Signalling ◽  
Receptor Potential ◽  
Breakdown Product ◽  
Channel Activation ◽  
Inositol Lipids ◽  
Transient Receptor ◽  
Secondary Mechanism

The original hypothesis put forth by Bob Michell in his seminal 1975 review held that inositol lipid breakdown was involved in the activation of plasma membrane calcium channels or ‘gates’. Subsequently, it was demonstrated that while the interposition of inositol lipid breakdown upstream of calcium signalling was correct, it was predominantly the release of Ca2+ that was activated, through the formation of Ins(1,4,5)P3. Ca2+ entry across the plasma membrane involved a secondary mechanism signalled in an unknown manner by depletion of intracellular Ca2+ stores. In recent years, however, additional non-store-operated mechanisms for Ca2+ entry have emerged. In many instances, these pathways involve homologues of the Drosophila trp (transient receptor potential) gene. In mammalian systems there are seven members of the TRP superfamily, designated TRPC1–TRPC7, which appear to be reasonably close structural and functional homologues of Drosophila TRP. Although these channels can sometimes function as store-operated channels, in the majority of instances they function as channels more directly linked to phospholipase C activity. Three members of this family, TRPC3, 6 and 7, are activated by the phosphoinositide breakdown product, diacylglycerol. Two others, TRPC4 and 5, are also activated as a consequence of phospholipase C activity, although the precise substrate or product molecules involved are still unclear. Thus the TRPCs represent a family of ion channels that are directly activated by inositol lipid breakdown, confirming Bob Michell's original prediction 30 years ago.

A candidate gene study in predicted severe acute pancretitis

2001 ◽  
Vol 120 (5) ◽  
pp. A468-A468 ◽  
Author(s):  
G GALLAGHER ◽  
P CHONG ◽  
J ESKDALE ◽  
A COOK ◽  
S CAIMS ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Candidate Gene Study ◽  
Gene Study ◽  
Acute Pancretitis
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