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

Nature Genetics ◽

10.1038/ng1130 ◽

2003 ◽

Vol 33 (4) ◽

pp. 459-461 ◽

Author(s):

Jeanne Amiel ◽

Béatrice Laudier ◽

Tania Attié-Bitach ◽

Ha Trang ◽

Loïc de Pontual ◽

...

Keyword(s):

Homeobox Gene ◽

Congenital Central Hypoventilation Syndrome ◽

Frameshift Mutations ◽

Central Hypoventilation ◽

Polyalanine Expansion ◽

Hypoventilation Syndrome

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Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome

Neurobiology of Disease ◽

10.1016/j.nbd.2012.10.019 ◽

2013 ◽

Vol 50 ◽

pp. 187-200 ◽

Author(s):

Simona Di Lascio ◽

Tiziana Bachetti ◽

Elena Saba ◽

Isabella Ceccherini ◽

Roberta Benfante ◽

...

Keyword(s):

Regulatory Mechanism ◽

Congenital Central Hypoventilation Syndrome ◽

Transcriptional Dysregulation ◽

Central Hypoventilation ◽

Polyalanine Expansion ◽

Hypoventilation Syndrome

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Paired-Like Homeobox Gene PHOX2B Non-Polyalanine Repeat Expansion Mutations: Genotype-Phenotype Correlation in Congenital Central Hypoventilation Syndrome and Later Onset-CCHS

10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a5978 ◽

2020 ◽

Author(s):

S. Hockney ◽

A. Zhou ◽

G. Niewijk ◽

C. Rand ◽

P. Reineke ◽

...

Keyword(s):

Homeobox Gene ◽

Repeat Expansion ◽

Congenital Central Hypoventilation Syndrome ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

Central Hypoventilation ◽

Hypoventilation Syndrome

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

Journal of Human Genetics ◽

10.1007/s10038-007-0197-3 ◽

2007 ◽

Vol 52 (11) ◽

pp. 921-925 ◽

Author(s):

Hiroko Arai ◽

Tesshu Otagiri ◽

Ayako Sasaki ◽

Taeko Hashimoto ◽

Kazuo Umetsu ◽

...

Keyword(s):

Sister Chromatid ◽

Sister Chromatid Exchange ◽

De Novo ◽

Congenital Central Hypoventilation Syndrome ◽

Central Hypoventilation ◽

Polyalanine Expansion ◽

Hypoventilation Syndrome

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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

Human Molecular Genetics ◽

10.1093/hmg/ddi188 ◽

2005 ◽

Vol 14 (13) ◽

pp. 1815-1824 ◽

Author(s):

Tiziana Bachetti ◽

Ivana Matera ◽

Silvia Borghini ◽

Marco Di Duca ◽

Roberto Ravazzolo ◽

...

Keyword(s):

Congenital Central Hypoventilation Syndrome ◽

Frameshift Mutations ◽

Pathogenetic Mechanisms ◽

Central Hypoventilation ◽

Hypoventilation Syndrome

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Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene

Biomedical Papers ◽

10.5507/bp.2016.038 ◽

2016 ◽

Vol 160 (4) ◽

pp. 495-498 ◽

Author(s):

Eva Klaskova ◽

Jiri Drabek ◽

Milada Hobzova ◽

Vratislav Smolka ◽

Miroslav Seda ◽

...

Keyword(s):

Congenital Central Hypoventilation Syndrome ◽

Phox2b Gene ◽

Phenotype Variability ◽

Central Hypoventilation ◽

Polyalanine Expansion ◽

Hypoventilation Syndrome ◽

Expansion Mutation

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

Journal of Human Genetics ◽

10.1038/jhg.2009.109 ◽

2009 ◽

Vol 55 (1) ◽

pp. 4-7 ◽

Author(s):

Hiroko Arai ◽

Tesshu Otagiri ◽

Ayako Sasaki ◽

Kazuo Umetsu ◽

Kiyoshi Hayasaka

Keyword(s):

Congenital Central Hypoventilation Syndrome ◽

Central Hypoventilation ◽

Polyalanine Expansion ◽

Hypoventilation Syndrome

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Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome

Journal of Human Genetics ◽

10.1038/jhg.2012.27 ◽

2012 ◽

Vol 57 (5) ◽

pp. 335-337 ◽

Author(s):

Toru Meguro ◽

Yuki Yoshida ◽

Makiko Hayashi ◽

Kentaro Toyota ◽

Tesshu Otagiri ◽

...

Keyword(s):

Congenital Central Hypoventilation Syndrome ◽

Central Hypoventilation ◽

Polyalanine Expansion ◽

Hypoventilation Syndrome ◽

Expansion Mutation

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Paired-Like Homeobox Gene 2B (PHOX2B) and Congenital Central Hypoventilation Syndrome (CCHS): Genotype/Phenotype Correlation in Cohort of 347 Cases.

10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a6341 ◽

2009 ◽

Author(s):

DA Loghmanee ◽

CM Rand ◽

L Zhou ◽

EM Berry-Kravis ◽

LJ Jennings ◽

...

Keyword(s):

Homeobox Gene ◽

Congenital Central Hypoventilation Syndrome ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

Central Hypoventilation ◽

Hypoventilation Syndrome

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CONGENITAL CENTRAL HYPOVENTILATION SYNDROME, CAUSED BY DE NOVO DELETION IN THE PHOX2B GENE

PEDIATRIA Journal named after G N SPERANSKY ◽

10.24110/0031-403x-2019-98-2-235-238 ◽

2019 ◽

Vol 98 (2) ◽

pp. 235-238

Author(s):

S.V. Dumova ◽

◽

N.A. Semenova ◽

O.L. Chugunova ◽

O.A. Babak ◽

...

Keyword(s):

De Novo ◽

Congenital Central Hypoventilation Syndrome ◽

Phox2b Gene ◽

Central Hypoventilation ◽

Hypoventilation Syndrome

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CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS). THE FIRST AND SUCCESSFUL EXPERIENCE OF CCHS DIAGNOSTIC AND TREATMENT IN MOSCOW MUNICIPAL CHILDREN’S HOSPITAL.

10.26226/morressier.57d034d2d462b80292383855 ◽

2016 ◽

Author(s):

Alexandra Goryaynova

Keyword(s):

Congenital Central Hypoventilation Syndrome ◽

Central Hypoventilation ◽

Hypoventilation Syndrome

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