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Items: 1 to 20 of 81

1.

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.

Appenzeller S, Schirmacher A, Halfter H, Bäumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stögbauer F, Lüdemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbäumer G.

Am J Hum Genet. 2010 Jan;86(1):83-7. doi: 10.1016/j.ajhg.2009.12.003.

2.

Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.

Kuhlenbäumer G, Lüdemann P, Schirmacher A, De Vriendt E, Hünermund G, Young P, Hund-Georgiadis M, Schuierer G, Möller H, Ringelstein EB, Van Broeckhoven C, Timmerman V, Stögbauer F.

Neurology. 2004 Jun 22;62(12):2203-8.

PMID:
15210883
3.

A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.

Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S.

Mov Disord. 2015 Dec;30(14):1964-7. doi: 10.1002/mds.26345.

PMID:
26769607
5.

Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene.

Hayashi M, Shimada Y, Nishimura Y, Hama T, Tanaka T.

Biochem Biophys Res Commun. 2002 Oct 11;297(5):1253-8.

PMID:
12372422
6.

Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.

Horvath A, Faucz F, Finkielstain GP, Nikita ME, Rothenbuhler A, Almeida M, Mericq V, Stratakis CA.

Thyroid. 2010 Apr;20(4):363-7. doi: 10.1089/thy.2009.0260.

7.

Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.

Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO.

Ann Neurol. 1994 Sep;36(3):387-96.

PMID:
7915897
8.

Molecular comparison of rat cyclic nucleotide phosphodiesterase 8 family: unique expression of PDE8B in rat brain.

Kobayashi T, Gamanuma M, Sasaki T, Yamashita Y, Yuasa K, Kotera J, Omori K.

Gene. 2003 Nov 13;319:21-31.

PMID:
14597168
9.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

12.

Calmodulin-dependent cyclic nucleotide phosphodiesterase (PDE1).

Kakkar R, Raju RV, Sharma RK.

Cell Mol Life Sci. 1999 Jul;55(8-9):1164-86. Review.

PMID:
10442095
13.

Noradrenergic lesions differentially alter the expression of two subtypes of low Km cAMP-sensitive phosphodiesterase type 4 (PDE4A and PDE4B) in rat brain.

Farooqui SM, Zhang K, Makhay M, Jackson K, Farooqui SQ, Cherry JA, O'Donnell JM.

Brain Res. 2000 Jun 9;867(1-2):52-61.

PMID:
10837797
14.

Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.

Horvath A, Mericq V, Stratakis CA.

N Engl J Med. 2008 Feb 14;358(7):750-2. doi: 10.1056/NEJMc0706182. No abstract available.

15.
16.

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.

Pankratz N, Nichols WC, Uniacke SK, Halter C, Murrell J, Rudolph A, Shults CW, Conneally PM, Foroud T; Parkinson Study Group..

Hum Mol Genet. 2003 Oct 15;12(20):2599-608.

17.

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mattheijssens M, Joris G, Cras P, Martin JJ, De Deyn PP, Kumar-Singh S, Van Broeckhoven C, Cruts M.

Arch Neurol. 2010 May;67(5):606-16. doi: 10.1001/archneurol.2010.82.

PMID:
20457961
18.

A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.

Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA.

Eur J Hum Genet. 2008 Oct;16(10):1245-53. doi: 10.1038/ejhg.2008.85.

19.

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3461-6.

PMID:
16877416
20.

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:890-900.

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