Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal-Reference-Cited by-同舟云学术

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Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Published:2003-10-22 Issue:2 Volume:12 Page:121-126
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kaiser Frank J,Brega Paola,Raff Michael L,Byers Peter H,Gallati Sabina,Kay Teresa Taylor,de Almeida Salomé,Horsthemke Bernhard,Lüdecke Hermann-Josef

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201094.pdf

Reference14 articles.

1. Boulikas T : Nuclear localization signals (NLS). CRC Crit Rev Euk Gene Expr 1993; 3: 193–227.

2. Momeni P, Glöckner G, Schmidt O et al.: Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 2000; 24: 71–74.

3. Sun L, Liu A, Georgopoulos K : Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development. EMBO J 1996; 15: 5358–5369.

4. Koipally J, Renold A, Kim J, Georgopoulos K : Repression by Ikaros and Aiolos is mediated through histone deacetylase complexes. EMBO J 1999; 18: 3090–3100.

5. Malik TH, Shoichet SA, Latham P, Kroll TG, Peters LL, Shivdasani RA : Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1. EMBO J 2001; 20: 1715–1725.

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2. Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants;European Journal of Medical Genetics;2024-06

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