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Results: 1 to 20 of 101

1.

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A, Banfi S, Pober B, Renieri A.

Genomics. 1999 Sep 15;60(3):251-7.

PMID:
10493825
[PubMed - indexed for MEDLINE]
2.

Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).

Vitelli F, Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J, Sorrentino V, Renieri A.

Genomics. 1999 Feb 1;55(3):335-40.

PMID:
10049589
[PubMed - indexed for MEDLINE]
3.

Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.

Yatsuki H, Watanabe H, Hattori M, Joh K, Soejima H, Komoda H, Xin Z, Zhu X, Higashimoto K, Nishimura M, Kuratomi S, Sasaki H, Sakaki Y, Mukai T.

DNA Res. 2000 Jun 30;7(3):195-206.

PMID:
10907850
[PubMed - indexed for MEDLINE]
Free Article
4.

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A.

Genomics. 1998 Feb 1;47(3):350-8.

PMID:
9480748
[PubMed - indexed for MEDLINE]
5.

Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family.

Kashuba VI, Kvasha SM, Protopopov AI, Gizatullin RZ, Rynditch AV, Wahlestedt C, Wasserman WW, Zabarovsky ER.

Gene. 2001 May 2;268(1-2):115-22.

PMID:
11368907
[PubMed - indexed for MEDLINE]
6.

Novel gene hKCNE4 slows the activation of the KCNQ1 channel.

Teng S, Ma L, Zhen Y, Lin C, Bähring R, Vardanyan V, Pongs O, Hui R.

Biochem Biophys Res Commun. 2003 Apr 11;303(3):808-13.

PMID:
12670483
[PubMed - indexed for MEDLINE]
7.

KQT2, a new putative potassium channel family produced by alternative splicing. Isolation, genomic structure, and alternative splicing of the putative potassium channels.

Nakamura M, Watanabe H, Kubo Y, Yokoyama M, Matsumoto T, Sasai H, Nishi Y.

Receptors Channels. 1998;5(5):255-71.

PMID:
9666519
[PubMed - indexed for MEDLINE]
8.

Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome.

Wang YK, Spörle R, Paperna T, Schughart K, Francke U.

Genomics. 1999 Apr 15;57(2):235-48.

PMID:
10198163
[PubMed - indexed for MEDLINE]
9.

Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3.

Vitelli F, Meloni I, Fineschi S, Favara F, Tiziana Storlazzi C, Rocchi M, Renieri A.

Cytogenet Cell Genet. 2000;88(3-4):259-63.

PMID:
10828604
[PubMed - indexed for MEDLINE]
10.

Adult KCNE1-knockout mice exhibit a mild cardiac cellular phenotype.

Charpentier F, Merot J, Riochet D, Le Marec H, Escande D.

Biochem Biophys Res Commun. 1998 Oct 29;251(3):806-10.

PMID:
9790991
[PubMed - indexed for MEDLINE]
11.

Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA).

Isbrandt D, Leicher T, Waldschütz R, Zhu X, Luhmann U, Michel U, Sauter K, Pongs O.

Genomics. 2000 Mar 1;64(2):144-54.

PMID:
10729221
[PubMed - indexed for MEDLINE]
12.

KCNQ1/KCNE1 potassium channels in mammalian vestibular dark cells.

Nicolas M, Demêmes D, Martin A, Kupershmidt S, Barhanin J.

Hear Res. 2001 Mar;153(1-2):132-45.

PMID:
11223304
[PubMed - indexed for MEDLINE]
13.

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.

Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A.

Hum Mol Genet. 1995 Mar;4(3):373-82.

PMID:
7795590
[PubMed - indexed for MEDLINE]
14.

Altered potassium balance and aldosterone secretion in a mouse model of human congenital long QT syndrome.

Arrighi I, Bloch-Faure M, Grahammer F, Bleich M, Warth R, Mengual R, Drici MD, Barhanin J, Meneton P.

Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8792-7. Epub 2001 Jul 3.

PMID:
11438691
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels.

Chutkow WA, Simon MC, Le Beau MM, Burant CF.

Diabetes. 1996 Oct;45(10):1439-45.

PMID:
8826984
[PubMed - indexed for MEDLINE]
16.

Coexpression of the KCNA3B gene product with Kv1.5 leads to a novel A-type potassium channel.

Leicher T, Bähring R, Isbrandt D, Pongs O.

J Biol Chem. 1998 Dec 25;273(52):35095-101.

PMID:
9857044
[PubMed - indexed for MEDLINE]
Free Article
17.

A single transmembrane site in the KCNE-encoded proteins controls the specificity of KvLQT1 channel gating.

Melman YF, Krumerman A, McDonald TV.

J Biol Chem. 2002 Jul 12;277(28):25187-94. Epub 2002 May 6.

PMID:
11994278
[PubMed - indexed for MEDLINE]
Free Article
18.

Isolation, characterization, and mapping of two human potassium channels.

Su K, Kyaw H, Fan P, Zeng Z, Shell BK, Carter KC, Li Y.

Biochem Biophys Res Commun. 1997 Dec 29;241(3):675-81.

PMID:
9434767
[PubMed - indexed for MEDLINE]
19.

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

Chen Q, Zhang D, Gingell RL, Moss AJ, Napolitano C, Priori SG, Schwartz PJ, Kehoe E, Robinson JL, Schulze-Bahr E, Wang Q, Towbin JA.

Circulation. 1999 Mar 16;99(10):1344-7.

PMID:
10077519
[PubMed - indexed for MEDLINE]
Free Article
20.

Single-channel properties of IKs potassium channels.

Yang Y, Sigworth FJ.

J Gen Physiol. 1998 Dec;112(6):665-78. Erratum in: J Gen Physiol 1999 Mar;113(3):505.

PMID:
9834139
[PubMed - indexed for MEDLINE]
Free PMC Article

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