Gusella JF - Search Results

1

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA. Hims MM, et al. Among authors: gusella jf. Genomics. 2007 Sep;90(3):389-96. doi: 10.1016/j.ygeno.2007.05.012. Epub 2007 Jul 17. Genomics. 2007. PMID: 17644305 Free PMC article.

2

Familial dysautonomia.

Slaugenhaupt SA, Gusella JF. Slaugenhaupt SA, et al. Among authors: gusella jf. Curr Opin Genet Dev. 2002 Jun;12(3):307-11. doi: 10.1016/s0959-437x(02)00303-9. Curr Opin Genet Dev. 2002. PMID: 12076674 Review.

3

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. Cuajungco MP, et al. Among authors: gusella jf. Am J Hum Genet. 2003 Mar;72(3):749-58. doi: 10.1086/368263. Epub 2003 Feb 6. Am J Hum Genet. 2003. PMID: 12577200 Free PMC article.

4

Identification of the first non-Jewish mutation in familial Dysautonomia.

Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Leyne M, et al. Among authors: gusella jf. Am J Med Genet A. 2003 May 1;118A(4):305-8. doi: 10.1002/ajmg.a.20052. Am J Med Genet A. 2003. PMID: 12687659

5

The GPR54 gene as a regulator of puberty.

Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH. Seminara SB, et al. Among authors: gusella jf. N Engl J Med. 2003 Oct 23;349(17):1614-27. doi: 10.1056/NEJMoa035322. N Engl J Med. 2003. PMID: 14573733 Free article.

6

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Among authors: gusella jf. Hum Mol Genet. 2004 Feb 15;13(4):429-36. doi: 10.1093/hmg/ddh046. Epub 2004 Jan 6. Hum Mol Genet. 2004. PMID: 14709595

7

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Zeng WQ, et al. Among authors: gusella jf. Am J Hum Genet. 2005 Jul;77(1):16-26. doi: 10.1086/431216. Epub 2005 May 3. Am J Hum Genet. 2005. PMID: 15871139 Free PMC article.

8

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA. Hims MM, et al. Among authors: gusella jf. J Mol Med (Berl). 2007 Feb;85(2):149-61. doi: 10.1007/s00109-006-0137-2. Epub 2007 Jan 6. J Mol Med (Berl). 2007. PMID: 17206408

9

miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement.

Hoss AG, Labadorf A, Latourelle JC, Kartha VK, Hadzi TC, Gusella JF, MacDonald ME, Chen JF, Akbarian S, Weng Z, Vonsattel JP, Myers RH. Hoss AG, et al. Among authors: gusella jf. BMC Med Genomics. 2015 Mar 1;8:10. doi: 10.1186/s12920-015-0083-3. BMC Med Genomics. 2015. PMID: 25889241 Free PMC article.

10

Mapping of a human A2a adenosine receptor (ADORA2) to chromosome 22.

MacCollin M, Peterfreund R, MacDonald M, Fink JS, Gusella J. MacCollin M, et al. Genomics. 1994 Mar 15;20(2):332-3. doi: 10.1006/geno.1994.1181. Genomics. 1994. PMID: 8020991 No abstract available.

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