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Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O. Niederlova V, et al. Hum Mutat. 2019 Nov;40(11):2068-2087. doi: 10.1002/humu.23862. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31283077
Bardet-Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. ...
Bardet-Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. ...
A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment.
Pak TK, Carter CS, Zhang Q, Huang SC, Searby C, Hsu Y, Taugher RJ, Vogel T, Cychosz CC, Genova R, Moreira NN, Stevens H, Wemmie JA, Pieper AA, Wang K, Sheffield VC. Pak TK, et al. PLoS Genet. 2021 Apr 22;17(4):e1009484. doi: 10.1371/journal.pgen.1009484. eCollection 2021 Apr. PLoS Genet. 2021. PMID: 33886537 Free PMC article.
To study the role of cilia in behavior, we employ mouse models of the human ciliopathy, Bardet-Biedl Syndrome (BBS). Here, we demonstrate that BBS mice have significant impairments in context fear conditioning, a form of associative learning. ...
To study the role of cilia in behavior, we employ mouse models of the human ciliopathy, Bardet-Biedl Syndrome (BBS). He …
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR. Rao PV, et al. J Assoc Physicians India. 2005 Jun;53:521-6. J Assoc Physicians India. 2005. PMID: 16121806
The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipopr …
The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association …