Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3

2020 ◽  
Vol 98 (4) ◽  
pp. 384-389
Author(s):  
Aurélien Trimouille ◽  
Angèle Tingaud‐Sequeira ◽  
Didier Lacombe ◽  
Tina Duelund Hjortshøj ◽  
Sven Kreiborg ◽  
...  
Keyword(s):  
Polyalanine Tract

scholarly journals 06-P045 A G11A mutation N-terminal to the polyalanine tract in HOXD13 causes limb malformations by altering both the stability and the DNA-binding functions of HOXD13

2009 ◽  
Vol 126 ◽  
pp. S133
Author(s):  
Nathalie Brison ◽  
Sebastian Fantini ◽  
Giulia Vaccari ◽  
Philippe Debeer ◽  
Vincenzo Zappavigna ◽  
...  
Keyword(s):  
Dna Binding ◽  
Limb Malformations ◽  
The Stability ◽  
Polyalanine Tract

scholarly journals An investigation into FOXE1 polyalanine tract length in premature ovarian failure

2006 ◽  
Vol 12 (3) ◽  
pp. 145-149 ◽  
Author(s):  
Wendy J. Watkins ◽  
Sarah E. Harris ◽  
Megan J. Craven ◽  
Andrea L. Vincent ◽  
Ingrid M. Winship ◽  
...  
Keyword(s):  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Tract Length ◽  
Polyalanine Tract

scholarly journals X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

2009 ◽  
Vol 18 (4) ◽  
pp. 218-221 ◽  
Author(s):  
Emma M.M. Burkitt Wright ◽  
Rahat Perveen ◽  
Peter E. Clayton ◽  
Catherine M. Hall ◽  
Teresa Costa ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency ◽  
Phenotypic Spectrum ◽  
Polyalanine Tract

scholarly journals Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene

Genomics ◽  
2007 ◽  
Vol 90 (1) ◽  
pp. 59-71 ◽  
Author(s):  
Cheryl Shoubridge ◽  
Desiree Cloosterman ◽  
Emma Parkinson–Lawerence ◽  
Douglas Brooks ◽  
Jozef Gécz
Keyword(s):  
Molecular Pathology ◽  
Homeobox Gene ◽  
Polyalanine Tract

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

2008 ◽  
Vol 314 (8) ◽  
pp. 1652-1666 ◽  
Author(s):  
Arnaud F. Klein ◽  
Mitsuru Ebihara ◽  
Christine Alexander ◽  
Marie-Josée Dicaire ◽  
A. Marie-Josée Sasseville ◽  
...  
Keyword(s):  
Aggregation Pattern ◽  
Polyalanine Tract

scholarly journals Does the Polymorphism in the Length of the Polyalanine Tract ofFOXE1Gene Influence the Risk of Thyroid Dysgenesis Occurrence?

2017 ◽  
Vol 2017 ◽  
pp. 1-6
Author(s):  
Clebson Pantoja Pimentel ◽  
Erik Artur Cortinhas-Alves ◽  
Edivaldo Herculano Correa de Oliveira ◽  
Luiz Carlos Santana-da-Silva
Keyword(s):  
Genomic Dna ◽  
Case Control Study ◽  
Case Control ◽  
Control Group ◽  
Thyroid Dysgenesis ◽  
Susceptibility Factor ◽  
History Of ◽  
And Control ◽  
Polyalanine Tract ◽  
Control Study

Background.Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) ofFOXE1gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA ofFOXE1gene on the risk of thyroid dysgenesis.Method.A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing.Results.More than 90% of genotypes found in the group of patients with thyroid dysgenesis and in controls subjects were represented by sizes 14 and 16 polymorphisms in the following combinations: 14/14, 14/16, and 16/16. Genotypes 14/16 and 16/16 were more frequent in the control group, while genotype 14/14 was more frequent in the group of patients with thyroid dysgenesis. There was no difference between agenesis group and control group. Genotype 14/14 when compared to genotypes 14/16 and 16/16A showed an association with thyroid dysgenesis.Conclusion.PolyA ofFOXE1gene alters the risk of thyroid dysgenesis, which may explain in part the etiology of this disease.

Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion

2006 ◽  
Vol 49 (5) ◽  
pp. 396-401 ◽  
Author(s):  
Katherine Horsnell ◽  
Manir Ali ◽  
Saghira Malik ◽  
Louise Wilson ◽  
Christine Hall ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Polyalanine Tract

scholarly journals Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

1997 ◽  
Vol 94 (14) ◽  
pp. 7458-7463 ◽  
Author(s):  
F. R. Goodman ◽  
S. Mundlos ◽  
Y. Muragaki ◽  
D. Donnai ◽  
M. L. Giovannucci-Uzielli ◽  
...  
Keyword(s):  
Polyalanine Tract
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