Hoskins BE - Search Results

1

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N. Badano JL, et al. Among authors: hoskins be. Hum Mol Genet. 2003 Jul 15;12(14):1651-9. doi: 10.1093/hmg/ddg188. Hum Mol Genet. 2003. PMID: 12837689

2

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. Katsanis N, et al. Among authors: hoskins be. Am J Hum Genet. 2002 Jul;71(1):22-9. doi: 10.1086/341031. Epub 2002 May 15. Am J Hum Genet. 2002. PMID: 12016587 Free PMC article.

3

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. Beales PL, et al. Among authors: hoskins be. Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3. Am J Hum Genet. 2003. PMID: 12677556 Free PMC article.

4

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N. Ansley SJ, et al. Among authors: hoskins be. Nature. 2003 Oct 9;425(6958):628-33. doi: 10.1038/nature02030. Epub 2003 Sep 21. Nature. 2003. PMID: 14520415

5

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. Kulaga HM, et al. Among authors: hoskins be. Nat Genet. 2004 Sep;36(9):994-8. doi: 10.1038/ng1418. Epub 2004 Aug 22. Nat Genet. 2004. PMID: 15322545

6

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Hoskins BE, Thorn A, Scambler PJ, Beales PL. Hoskins BE, et al. Hum Mutat. 2003 Aug;22(2):151-7. doi: 10.1002/humu.10241. Hum Mutat. 2003. PMID: 12872256

7

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL. Kim JC, et al. Among authors: hoskins be. Nat Genet. 2004 May;36(5):462-70. doi: 10.1038/ng1352. Epub 2004 Apr 25. Nat Genet. 2004. PMID: 15107855

8

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Pereiro I, Hoskins BE, Marshall JD, Collin GB, Naggert JK, Piñeiro-Gallego T, Oitmaa E, Katsanis N, Valverde D, Beales PL. Pereiro I, et al. Among authors: hoskins be. Eur J Hum Genet. 2011 Apr;19(4):485-8. doi: 10.1038/ejhg.2010.207. Epub 2010 Dec 15. Eur J Hum Genet. 2011. PMID: 21157496 Free PMC article.

9

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Katsanis N, et al. Among authors: hoskins be. Science. 2001 Sep 21;293(5538):2256-9. doi: 10.1126/science.1063525. Science. 2001. PMID: 11567139

10

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL. Forsythe E, et al. J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22. J Am Soc Nephrol. 2017. PMID: 27659767 Free PMC article.

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