A complex Xp11.22 deletion in a patient with syndromic autism: Exploration ofFAM120Cas a positional candidate gene for autism

2014 ◽  
Vol 164 (12) ◽  
pp. 3035-3041 ◽  
Author(s):  
Veerle De Wolf ◽  
An Crepel ◽  
Frans Schuit ◽  
Leentje van Lommel ◽  
Berten Ceulemans ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Positional Candidate Gene ◽  
Positional Candidate ◽  
Syndromic Autism

Analysis of a positional candidate gene for inflammatory bowel disease: NRAMP2

2007 ◽  
Vol 6 (2) ◽  
pp. 92-98 ◽  
Author(s):  
Pieter C. F. Stokkers ◽  
Kees Huibregtse ◽  
A. C. Leegwater ◽  
Pieter H. Reitsma ◽  
Guido N. J. Tytgat ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Candidate Gene ◽  
Bowel Disease ◽  
Positional Candidate Gene ◽  
Positional Candidate ◽  
Inflammatory Bowel

scholarly journals EIF4A2 Is a Positional Candidate Gene at the 3q27 Locus Linked to Type 2 Diabetes in French Families

Diabetes ◽  
2006 ◽  
Vol 55 (4) ◽  
pp. 1171-1176 ◽  
Author(s):  
C. Cheyssac ◽  
C. Dina ◽  
F. Lepretre ◽  
V. Vasseur-Delannoy ◽  
A. Dechaume ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Candidate Gene ◽  
Positional Candidate Gene ◽  
Positional Candidate

scholarly journals Microarray gene expression analysis of the Fob3b obesity QTL identifies positional candidate gene Sqle and perturbed cholesterol and glycolysis pathways

2005 ◽  
Vol 20 (3) ◽  
pp. 224-232 ◽  
Author(s):  
Ioannis M. Stylianou ◽  
Michael Clinton ◽  
Peter D. Keightley ◽  
Clare Pritchard ◽  
Zuzzana Tymowska-Lalanne ◽  
...  
Keyword(s):  
Gene Expression ◽  
Candidate Gene ◽  
Expression Analysis ◽  
Cholesterol Biosynthesis ◽  
Cdna Array ◽  
Differentially Expressed ◽  
Positional Candidate Gene ◽  
Squalene Epoxidase ◽  
Congenic Line ◽  
Positional Candidate

Obesity-related diseases are poised to become the primary cause of death in developed nations. While a number of monogenic causes of obesity have recently been identified, these are responsible for only a small proportion of human cases of obesity. Quantitative trait locus (QTL) studies using animal models have revealed hundreds of potential loci that affect obesity; however, few have been further analyzed beyond the original QTL scan. We previously mapped four QTL in an F2 between divergently selected Fat (F) and Lean (L) lines. A QTL of large effect on chromosome 15 ( Fob3) was subsequently mapped to a higher resolution into two smaller-effect QTL ( Fob3a and Fob3b) using crosses between the F-line and a congenic line containing L-line alleles at the Fob3 QTL region. Here we report the gene expression characterization of Fob3b. Microarray expression analysis using the NIA-NIH 15K cDNA array set containing 14,938 mouse ESTs was employed to identify candidate genes and pathways that are differentially expressed between the F-line and a congenic line containing only the Fob3b QTL ( Fob3b-line). Our study suggests squalene epoxidase (Sqle), a cholesterol biosynthesis enzyme, as a strong positional candidate gene for Fob3b. Several other cholesterol biosynthesis pathway genes unlinked to Fob3b were found to be differentially expressed, suggesting that a perturbation of this pathway could be in part responsible for the phenotypic difference between the F-line and Fob3b-line mice.

scholarly journals Tsc2, a positional candidate gene underlying a quantitative trait locus for hepatic steatosis

2012 ◽  
Vol 53 (8) ◽  
pp. 1493-1501 ◽  
Author(s):  
Chen-Yu Wang ◽  
Donald S. Stapleton ◽  
Kathryn L. Schueler ◽  
Mary E. Rabaglia ◽  
Angie T. Oler ◽  
...  
Keyword(s):  
Quantitative Trait Locus ◽  
Candidate Gene ◽  
Hepatic Steatosis ◽  
Quantitative Trait ◽  
Positional Candidate Gene ◽  
Positional Candidate ◽  
Trait Locus

scholarly journals Porcine LMNA Is a Positional Candidate Gene Associated with Growth and Fat Deposition

2012 ◽  
Vol 25 (12) ◽  
pp. 1649-1659 ◽  
Author(s):  
Bong Hwan Choi ◽  
Jung Sim Lee ◽  
Seung Hwan Lee ◽  
Seung Chang Kim ◽  
Sang Wook Kim ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Fat Deposition ◽  
Positional Candidate Gene ◽  
Positional Candidate

Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13–14

2002 ◽  
Vol 49 (2) ◽  
pp. 157-172 ◽  
Author(s):  
Nichole L. Taske ◽  
Magali P. Williamson ◽  
Andrew Makoff ◽  
Louise Bate ◽  
David Curtis ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Juvenile Myoclonic Epilepsy ◽  
Myoclonic Epilepsy ◽  
Positional Candidate Gene ◽  
Positional Candidate
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