Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion (Q28263308)

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Tesshu Otagiri

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Ayako Sasaki

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Kazuo Umetsu

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Kiyoshi Hayasaka

Journal of Human Genetics

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language of work or name

English

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publication date

January 2010

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published in

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volume

55

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issue

1

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page(s)

4-7

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cites work

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

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Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13

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Srs2 and Sgs1-Top3 suppress crossovers during double-strand break repair in yeast

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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

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Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

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Polyalanine expansions might not result from unequal crossing-over

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Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

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Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA.

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Huntington disease expansion mutations in humans can occur before meiosis is completed

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The hyper unequal sister chromatid recombination in an sgs1 mutant of budding yeast requires MSH2.

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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

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Expandable DNA repeats and human disease.

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Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

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inferred from DOI database lookup

7 January 2021

based on heuristic

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.109