Literature DB >> 26440098

Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia.

Li-Zheng Wu1, Xin-Yue Xu, Ying-Feng Liu, Xin Ge, Xiao-Jing Wang.   

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Year:  2015        PMID： 26440098     DOI： 10.1007/s12041-015-0551-8

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  20 in total

1.  Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

Authors:  Kyriaki S Alatzoglou; Daniel Kelberman; Christopher T Cowell; Rodger Palmer; Ivo J P Arnhold; Maria E Melo; Dirk Schnabel; Annette Grueters; Mehul T Dattani
Journal:  J Clin Endocrinol Metab       Date:  2011-02-02       Impact factor: 5.958

2.  Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts.

Authors:  T Komori; H Yagi; S Nomura; A Yamaguchi; K Sasaki; K Deguchi; Y Shimizu; R T Bronson; Y H Gao; M Inada; M Sato; R Okamoto; Y Kitamura; S Yoshiki; T Kishimoto
Journal:  Cell       Date:  1997-05-30       Impact factor: 41.582

3.  Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation.

Authors:  Lara Moumné; Marc Fellous; Reiner A Veitia
Journal:  Hum Mol Genet       Date:  2005-10-11       Impact factor: 6.150

4.  Cbfbeta interacts with Runx2 and has a critical role in bone development.

Authors:  Mondira Kundu; Amjad Javed; Jae-Pil Jeon; Alan Horner; Lillian Shum; Michael Eckhaus; Maximilian Muenke; Jane B Lian; Yingzi Yang; Glen H Nuckolls; Gary S Stein; P Paul Liu
Journal:  Nat Genet       Date:  2002-11-18       Impact factor: 38.330

5.  Genomic and evolutionary insights into genes encoding proteins with single amino acid repeats.

Authors:  Pratibha Siwach; Saurabh Dilip Pophaly; Subramaniam Ganesh
Journal:  Mol Biol Evol       Date:  2006-04-17       Impact factor: 16.240

6.  Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.

Authors:  Tanya Vaughan; Julie A Pasco; Mark A Kotowicz; Geoff C Nicholson; Nigel A Morrison
Journal:  J Bone Miner Res       Date:  2002-08       Impact factor: 6.741

7.  Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.

Authors:  Hugo Lavoie; Francois Debeane; Quoc-Dien Trinh; Jean-Francois Turcotte; Louis-Philippe Corbeil-Girard; Marie-Josée Dicaire; Anik Saint-Denis; Martin Pagé; Guy A Rouleau; Bernard Brais
Journal:  Hum Mol Genet       Date:  2003-09-30       Impact factor: 6.150

8.  A novel 30 bp deletion in the FOXL2 gene in a phenotypically normal woman with primary amenorrhoea: case report.

Authors:  Ksenija Gersak; Sarah E Harris; Wendy J Smale; Andrew N Shelling
Journal:  Hum Reprod       Date:  2004-09-30       Impact factor: 6.918

9.  PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.

Authors:  Arnaud F Klein; Mitsuru Ebihara; Christine Alexander; Marie-Josée Dicaire; A Marie-Josée Sasseville; Yves Langelier; Guy A Rouleau; Bernard Brais
Journal:  Exp Cell Res       Date:  2008-02-23       Impact factor: 3.905

Review 10.  Alanine tracts: the expanding story of human illness and trinucleotide repeats.

Authors:  Lucia Y Brown; Stephen A Brown
Journal:  Trends Genet       Date:  2004-01       Impact factor: 11.639
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