| 1 |
32822965 | Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene. | 2020 Oct |
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| 2 |
30955232 | Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation. | 2019 Jul |
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| 3 |
29548648 | Genetic factors in sleep-disordered breathing. | 2018 Mar |
2 |
| 4 |
27129232 | Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import. | 2016 Jun 17 |
4 |
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25931513 | Key Role of Amino Acid Repeat Expansions in the Functional Diversification of Duplicated Transcription Factors. | 2015 Sep |
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| 6 |
23103552 | Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome. | 2013 Feb |
3 |
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21964250 | In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins. | 2012 Jan |
4 |
| 8 |
22437207 | Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. | 2012 May |
1 |
| 9 |
22440308 | [The congenital central hypoventilation syndrome (CCHS): a late presentation]. | 2012 Mar |
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| 10 |
23427517 | Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant. | 2012 Sep-Oct |
2 |
| 11 |
21336852 | Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. | 2011 May |
1 |
| 12 |
21881099 | Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history. | 2011 Sep |
1 |
| 13 |
19881470 | Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion. | 2010 Jan |
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| 14 |
19058226 | In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. | 2009 Feb |
2 |
| 15 |
19191321 | Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants. | 2009 Apr |
4 |
| 16 |
19201717 | PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. | 2009 Feb |
1 |
| 17 |
18323871 | Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy. | 2008 Feb |
2 |
| 18 |
18407552 | Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). | 2008 May |
1 |
| 19 |
17045833 | Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. | 2007 |
1 |
| 20 |
16873766 | PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. | 2006 Oct 15 |
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