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Items: 1 to 20 of 80

1.

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

Goldin E, Stahl S, Cooney AM, Kaneski CR, Gupta S, Brady RO, Ellis JR, Schiffmann R.

Hum Mutat. 2004 Dec;24(6):460-5.

PMID:
15523648
2.

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G.

Hum Mutat. 2001 May;17(5):397-402.

PMID:
11317355
3.

Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation.

Tüysüz B, Goldin E, Metin B, Korkmaz B, Yalçinkaya C.

Brain Dev. 2009 Oct;31(9):702-5. doi: 10.1016/j.braindev.2008.10.001. Epub 2008 Nov 8.

PMID:
19006653
4.

Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

Dobrovolny R, Liskova P, Ledvinova J, Poupetova H, Asfaw B, Filipec M, Jirsova K, Kraus J, Elleder M.

Am J Ophthalmol. 2007 Apr;143(4):663-71. Epub 2006 Dec 28.

PMID:
17239335
5.

The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.

Bach G, Webb MB, Bargal R, Zeigler M, Ekstein J.

Hum Mutat. 2005 Dec;26(6):591.

PMID:
16287144
6.

The molecular basis of mucolipidosis type IV.

Slaugenhaupt SA.

Curr Mol Med. 2002 Aug;2(5):445-50. Review.

PMID:
12125810
7.

Identification of the gene causing mucolipidosis type IV.

Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G.

Nat Genet. 2000 Sep;26(1):118-23.

PMID:
10973263
8.

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Acierno JS Jr, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA.

Genomics. 2001 Apr 15;73(2):203-10.

PMID:
11318610
9.

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA.

Hum Mol Genet. 2000 Oct 12;9(17):2471-8.

PMID:
11030752
10.

Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin.

Bargal R, Goebel HH, Latta E, Bach G.

Neuropediatrics. 2002 Aug;33(4):199-202.

PMID:
12368990
11.

Basis of lethality in C. elegans lacking CUP-5, the Mucolipidosis Type IV orthologue.

Schaheen L, Dang H, Fares H.

Dev Biol. 2006 May 15;293(2):382-91.

12.

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

Raychowdhury MK, González-Perrett S, Montalbetti N, Timpanaro GA, Chasan B, Goldmann WH, Stahl S, Cooney A, Goldin E, Cantiello HF.

Hum Mol Genet. 2004 Mar 15;13(6):617-27. Epub 2004 Jan 28.

PMID:
14749347
13.

Mucolipidosis type IV.

Bach G.

Mol Genet Metab. 2001 Jul;73(3):197-203. Review.

PMID:
11461186
14.

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN.

Hum Mutat. 2007 Feb;28(2):150-8.

PMID:
17001642
15.

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

Edelmann L, Dong J, Desnick RJ, Kornreich R.

Am J Hum Genet. 2002 Apr;70(4):1023-7. Epub 2002 Feb 13.

16.

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.

Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.

Kobe J Med Sci. 2007;53(5):229-40.

17.

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.

Thromb Haemost. 2008 Mar;99(3):523-30. doi: 10.1160/TH07-12-0723.

PMID:
18327400
18.

The neurogenetics of mucolipidosis type IV.

Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R.

Neurology. 2002 Aug 13;59(3):306-13.

PMID:
12182165
19.

Mitochondrial aberrations in mucolipidosis Type IV.

Jennings JJ Jr, Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K.

J Biol Chem. 2006 Dec 22;281(51):39041-50. Epub 2006 Oct 20.

20.

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.

Alves S, Mangas M, Prata MJ, Ribeiro G, Lopes L, Ribeiro H, Pinto-Basto J, Lima MR, Lacerda L.

J Inherit Metab Dis. 2006 Dec;29(6):743-54. Epub 2006 Oct 25.

PMID:
17063374

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