International Journal of Obesity - Association between BBS6//MKKS ...
BBS6/MKKS is among the genes, which have been tested in the literature for possible association with obesity. It is one of the genes causing BBS,8, ...
http://www.nature.com/ijo/journal/v32/n11/full/ijo2008167a.h...
|
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS ...
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result ...... 1999]; Mutations in MKKS cause obesity, retinal dystrophy and renal ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180271/...
|
MKKS - Wikipedia, the free encyclopedia
"Mutations in MKKS cause obesity, retinal dystrophy and renal ... epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. ... " Large-scale mapping of human protein-protein interactions by mass spectrometry. ...
http://en.wikipedia.org/wiki/MKKS...
|
McKusick-Kaufman Syndrome -- GeneReviews -- NCBI Bookshelf
8 Oct 2009 ... MKKS is the only gene currently known to be associated with MKS. ..... Katsanis N. Genetic interaction of BBS1 mutations with alleles at other BBS .... No evidence for triallelic inheritance of MKKS/BBS loci in Amish ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
|
AJHG - Genetic Interaction of BBS1 Mutations with Alleles at Other ...
... for mutations in the recently discovered BBS6 gene (MKKS) on chromosome 20 ... Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can ...
http://www.cell.com/AJHG/abstract/S0002-9297(07)60646-6...
|
Identification of a Novel BBS Gene (BBS12) Highlights the Major ...
In fact, the first BBS gene identified (BBS6, or MKKS) and BBS10 are absent from ... bbs10, and bbs12 revealed strong genetic interaction, with the embryos ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1785304/...
|
European Journal of Human Genetics - Pitfalls of homozygosity ...
In order to find new BBS genes, we performed SNP homozygosity mapping ..... to clinical manifestations of BBS (notably obesity) or possible interaction with .... Biesecker LG: No evidence for triallelic inheritance of MKKS/BBS loci in ...
http://www.nature.com/ejhg/journal/v14/n11/full/5201688a.htm...
|
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
MKS is caused by mutations of the MKKS gene, which can also cause BBS. ...... Genetic interaction between Bardet-Biedl syndrome genes and implications for ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
|
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs ...
Furthermore, we identify genetic interactions between BBS genes and a PCP gene in ..... Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. ...
http://www.nature.com/ng/journal/v37/n10/full/ng1644.html...
|
AJHG - Antenatal Presentation of Bardet-Biedl Syndrome May Mimic ...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder ... them for mutations in the recently discovered BBS6 gene (MKKS) on chromosome 20 and for ... Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can ...
http://www.cell.com/AJHG/abstract/S0002-9297(07)63344-8...
|