PHOX2B Gene

Aliases
for PHOX2B gene

Previous GC identifers: GC04M042029 GC04M041596 GC04M041661 GC04M041587 GC04M041440 GC04M041068

Summaries
for PHOX2B gene

Genomic Views
for PHOX2B gene

RefSeq DNA sequence:

NC_000004.11  NC_018915.1  NT_006238.11  

SwitchGear Promoter luciferase reporter plasmid: PHOX2B promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHOX2B

PHOX2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M041746:  view genomic region     (about GC identifiers)

Proteins
for PHOX2B gene

Explore the universe of human proteins at neXtProt for PHOX2B: NX_Q99453

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
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	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: PHOX2B OriGene Custom Protein Services for PHOX2B
	GenScript Custom Purified and Recombinant Proteins Services for PHOX2B
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PHOX2B

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PHOX2B
	R&D Systems Antibodies for PHOX2B
	Browse OriGene Antibodies OriGene Custom Antibody Services for PHOX2B
	GenScript Custom Superior Antibodies Services for PHOX2B
	Search for Antibodies for PHOX2B at Abcam
	Uscn Antibodies for PHOX2B
	ThermoFisher Antibodies for PHOX2B

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PHOX2B
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PHOX2B

Protein Domains /
Families
for PHOX2B gene

ProtoNet protein and cluster: Q99453

Function
for PHOX2B gene

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHOX2B
		8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate PHOX2B (see all 66):
		hsa-miR-146a hsa-miR-4272 hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-3150b-3p hsa-miR-3148 hsa-miR-2113 hsa-miR-4324
		SwitchGear 3'UTR luciferase reporter plasmid: PHOX2B 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PHOX2B (see all 4) OriGene shRNA RFP: PHOX2B OriGene siRNA: PHOX2B
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PHOX2B

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for PHOX2B

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PHOX2B (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PHOX2B OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PHOX2B (NM_003924)
		Browse Sino Biological Human cDNA Clones
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PHOX2B
		Search LifeMap BioReagents cell lines for PHOX2B

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

(inferred from 8 alleles) (MGI details for Phox2b)

Pathways & Interactions
for PHOX2B gene

	Super-pathway	contained gene-specific pathways
1	Transcription factors in neurogenesis	Transcription factors in neurogenesis 1.00
2	Neural Crest Differentiation	Neural Crest Differentiation 1.00
3	SIDS Susceptibility Pathways	SIDS Susceptibility Pathways 1.00

1 EMD Millipore Pathway for PHOX2B

Transcription factors in neurogenesis

2 BioSystems Pathways for PHOX2B

	SIDS Susceptibility Pathways
	Neural Crest Differentiation

Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

Drugs & Compounds
for PHOX2B gene

Transcripts
for PHOX2B gene

Expression
for PHOX2B gene

PHOX2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCTTATAGT

2 LifeMap In Vivo Development Anatomical Compartments/Cells
	Tissue Anatomical Compartment Cell			Category (developmental path)
	Neural CrestTrunk Neural CrestSympathetic Neurons			Neural Crest
	SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor Cells			Skeletal Muscle
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell
	Name			Category
	Beating cell clusters (Spontaneous differen...)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PHOX2B Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PHOX2B
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHOX2B
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHOX2B

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B

Orthologs
for PHOX2B gene

Paralogs
for PHOX2B gene

Paralogs for PHOX2B gene

ALX1²  RAX²  VSX1²  DRGX²  PITX2²  PRRX2²  PITX1²  ARX²  

PRRX1²  PHOX2A²  ALX4²  ISX²  VSX2²  PITX3²  RAX2²  ALX3²  

17 SIMAP similar genes for PHOX2B using alignment to 2 protein entries:     PHX2B_HUMAN (see all proteins):

PITX2    PAX6    PITX1    PHOX2A    MNX1    SHOX2

NKX2-5    OTX2    PRRX1    DUX2    MEOX1    PRRX2

HOXB1    DRGX    RAX2    NOBOX    HOXA4

PHOX2B for paralogs           About GeneDecksing

Genomic Variants
for PHOX2B gene

Disorders / Diseases
for PHOX2B gene

20/23 diseases for PHOX2B

5 Novoseek disease relationships for PHOX2B gene    About this table

Publications
for PHOX2B gene

PubMed articles for PHOX2B gene, integrated from 9 sources (see all 138) (see top 10): (articles sorted by number of sources associating them with PHOX2B)

Utopia: connect your pdf to the dynamic world of online information

1. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (PubMed id 15657873)^{1, 2, 4, 9} Trochet D....Amiel J. (2005)
2. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (PubMed id 15024693)^{1, 2, 4, 9} Trochet D.... Amiel J. (2004)
3. Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation. (PubMed id 10395798)^{1, 2, 3} Yokoyama M.... Nakamura M. (1999)
4. Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles. (PubMed id 9039501)^{1, 2, 3} Yokoyama M.... Matsubara K. (1996)
5. Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. (PubMed id 16021468)^{1, 4, 9} Ide M....Yoshikawa T. (2005)
6. Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta- hydroxylase gene transcription. (PubMed id 11034547)^{1, 2, 9} Adachi M.... Lewis E.J. (2000)
7. Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559)^{1, 2, 9} Sasaki A.... Hayasaka K. (2003)
8. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. (PubMed id 15653965)^{1, 4, 9} Trang H....Gaultier C. (2005)
9. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. (PubMed id 12631670)^{1, 4, 9} Garcia-Barcelo M....Tam P.K. (2003)
10. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)^{1, 4, 9} Weese-Mayer D.E....Marazita M.L. (2004)
11. PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. (PubMed id 16691592)^{1, 2} McConville C....Rahman N. (2006)
12. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
13. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. (PubMed id 12640453)^{1, 2} Amiel J.... Lyonnet S. (2003)
14. Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants. (PubMed id 19191321)^{1, 9} Wu H.T....Wu K.J. (2009)
15. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (PubMed id 18079495)^{1, 9} Trochet D....Amiel J. (2008)
16. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. (PubMed id 17637745)^{1, 9} Raabe E.H....Maris J.M. (2008)
17. The Phox2B homeobox gene is mutated in sporadic neuroblastomas. (PubMed id 15516980)^{1, 9} van Limpt V....Versteeg R. (2004)
18. Association analysis of the PHOX2B gene with Hirschsp rung disease in the Han Chinese population of Southeastern China. (PubMed id 19735829)^{1, 9} Liu C.P....Li J.C. (2009)
19. Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cell s. (PubMed id 19573018)^{1, 9} Fan Y....Zhu M.Y. (2009)
20. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. (PubMed id 17765533)^{1, 9} de Pontual L....Amiel J. (2007)
21. The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells. (PubMed id 16402914)^{1, 9} Borghini S....Ceccherini I. (2006)
22. ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy. (PubMed id 16049556)^{1, 9} Jiang Y....Yasuda T. (2005)
23. In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. (PubMed id 19058226)^{1, 9} Trochet D....Amiel J. (2009)
24. Congenital Central Hypoventilation Syndrome due to PH OX2b gene defects: inheritance from asymptomatic parents. (PubMed id 19707990)^{1, 9} Hammel M....Holzinger A. (2009)
25. Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. (PubMed id 17300129)^{1, 9} Hung C.C....Hsu S.M. (2007)
26. PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. (PubMed id 19201717)^{1, 9} Lee P....Wu H.D. (2009)
27. PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma. (PubMed id 18949361)^{1, 9} Longo L....Perri P. (2008)
28. Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. (PubMed id 16763219)^{1, 9} Bachetti T....Ottonello G. (2006)
29. Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type. (PubMed id 16280598)^{1, 9} Rychlik J.L....Lewis E.J. (2005)
30. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. (PubMed id 16249188)^{1, 9} Trochet D....Amiel J. (2005)
31. Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. (PubMed id 15185974)^{1, 9} Kijima K....Hayasaka K. (2004)
32. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. (PubMed id 18798833)^{1, 9} Repetto G.M....Weese-Mayer D.E. (2009)
33. Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy. (PubMed id 18323871)^{1, 9} Imai S....Ohtsuki H. (2008)
34. Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes. (PubMed id 17505528)^{1, 9} Borghini S....Ceccherini I. (2007)
35. Molecular cloning and characterization of the promoter region of the human Phox2b gene. (PubMed id 15193420)^{1, 9} Jong Hong S....Kim K.S. (2004)
36. PMX2B, a new candidate gene for Hirschsprung's disease. (PubMed id 12919134)^{1, 9} Benailly H.K....Romana S.P. (2003)
37. Defective respiratory rhythmogenesis and loss of cent ral chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons . (PubMed id 19940179)^{1, 9} Dubreuil V....Goridis C. (2009)
38. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). (PubMed id 18407552)^{1, 9} Trochet D....Amiel J. (2008)
39. A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons. (PubMed id 18198276)^{1, 9} Dubreuil V....Goridis C. (2008)
40. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. (PubMed id 16873766)^{1, 9} Antic N.A....Weese-Mayer D.E. (2006)
41. An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. (PubMed id 16127999)^{1, 9} Bachetti T....Ceccherini I. (2005)
42. Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. (PubMed id 18438890)^{1, 9} Fitze G....Schackert H.K. (2008)
43. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. (PubMed id 16888290)^{1, 9} Berry-Kravis E.M....Weese-Mayer D.E. (2006)
44. Variable human phenotype associated with novel deletio ns of the PHOX2B gene. (PubMed id 21830319)¹ Jennings L.J....Weese-Mayer D.E. (2012)
45. Inheritance of polyalanine expansion mutation of PHOX2 B in congenital central hypoventilation syndrome. (PubMed id 22437207)¹ Meguro T....Hayasaka K. (2012)
46. Germline mosaicism of PHOX2B mutation accounts for fam ilial recurrence of congenital central hypoventilation syndrome (CCHS). (PubMed id 22821709)¹ Rand C.M....Weese-Mayer D.E. (2012)
47. Identification of novel DNA methylation markers in col orectal cancer using MIRA-based microarrays. (PubMed id 22552777)¹ Li H....Yang Y.X. (2012)
48. A Phox2- and Hand2-dependent Hand1 cis-regulatory elem ent reveals a unique gene dosage requirement for Hand2 during sympathetic neurog enesis. (PubMed id 22323723)¹ Vincentz J.W....Firulli A.B. (2012)
49. The E3 ubiquitin ligase TRIM11 mediates the degradatio n of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (PubMed id 22307522)¹ Parodi S....Ceccherini I. (2012)
50. Associations between variants near a monoaminergic pat hways gene (PHOX2B) and amygdala reactivity: a genome-wide functional imaging st udy. (PubMed id 22856363)¹ Ousdal O.T....Andreassen O.A. (2012)
51. Phenotype-phenotype and genotype-phenotype correlation s in patients with idiopathic superior oblique muscle palsy. (PubMed id 22170461)¹ Ohkubo S.I....Ohtsuki H. (2012)
52. Haddad syndrome with PHOX2B gene mutation in a Korean infant. (PubMed id 21286029)¹ Lee C.W....Kim D.K. (2011)
53. Congenital central hypoventilation syndrome due to PHO X2B mutation in a Saudi child: a case report. (PubMed id 21088916)¹ Al Saadi M.M. (2011)
54. Congenital central hypoventilation syndrome: four fami lies. (PubMed id 21076974)¹ Trivedi A....Nair R. (2011)
55. Transcription factor-induced lineage selection of stem -cell-derived neural progenitor cells. (PubMed id 21624811)¹ Panman L....Perlmann T. (2011)
56. Congenital central hypoventilation syndrome and the PH OX2B gene mutation. (PubMed id 22052119)¹ Marion T.L. and Bradshaw W.T. (2011)
57. PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature. (PubMed id 21373876)¹ Kwon M.J....Park W.S. (2011)
58. IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes . (PubMed id 21206965)¹ Lauriola M....Solmi R. (2011)
59. PHOX2B-mediated regulation of ALK expression: in vitr o identification of a functional relationship between two genes involved in neu roblastoma. (PubMed id 20957039)¹ Bachetti T....Perri P. (2010)
60. PHOX2B immunolocalization of the candidate human retr otrapezoid nucleus. (PubMed id 19888871)¹ Rudzinski E. and Kapur R.P. (2010)
61. Congenital central hypoventilation syndrome and the P HOX2B gene: a model of respiratory and autonomic dysregulation. (PubMed id 20601214)¹ Patwari P.P....Weese-Mayer D.E. (2010)
62. Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expan sion. (PubMed id 19881470)¹ Arai H....Hayasaka K. (2010)
63. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. (PubMed id 21051998)¹ Jennings L.J....Weese-Mayer D.E. (2010)
64. Post-mortem pathologic and genetic studies in 'd ead in bed syndrome' cases in type 1 diabetes mellitus. (PubMed id 20004937)¹ Tu E....Semsarian C. (2010)
65. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PubMed id 20846217)¹ Lee J.J....Hirschhorn J. (2010)
66. Molecular pathogenesis of peripheral neuroblastic tum ors. (PubMed id 20101209)¹ Janoueix-Lerosey I....Delattre O. (2010)
67. A candidate gene study of obstructive sleep apnea in European Americans and African Americans. (PubMed id 20538960)¹ Larkin E.K....Redline S. (2010)
68. Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend. (PubMed id 19128492)¹ McGaughey D.M....McCallion A.S. (2009)
69. rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population. (PubMed id 19262523)¹ Glas J....Brand S. (2009)
70. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. (PubMed id 18041756)¹ Gronli J.O....Weese-Mayer D.E. (2008)
71. Analysis of neuroblastoma tumour progression; loss of PHOX2B on 4p13 and 17q gain are early events in neuroblastoma tumourigenesis. (PubMed id 18292934)¹ Krona C....Martinsson T. (2008)
72. Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort. (PubMed id 18580884)¹ Roberts R.L....Merriman T.R. (2008)
73. Rare occurrence of PHOX2b mutations in sporadic neuroblastomas. (PubMed id 19011468)¹ Serra A....Fitze G. (2008)
74. Trim11 increases expression of dopamine beta-hydroxylase gene by interacting with Phox2b. (PubMed id 18275850)¹ Hong S.J....Kim K.S. (2008)
75. Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. (PubMed id 18157832)¹ Parodi S....Ceccherini I. (2008)
76. Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population. (PubMed id 17440194)¹ Miao X....Tam P.K. (2007)
77. Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. (PubMed id 17541758)¹ Diedrich A....Weese-Mayer D.E. (2007)
78. Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. (PubMed id 16830328)¹ Rand C.M....Berry-Kravis E.M. (2006)
79. Pediatric disorders with autonomic dysfunction: what role for PHOX2B? (PubMed id 15901893)¹ Gaultier C....Gallego J. (2005)
80. PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism. (PubMed id 16144830)¹ Cargnin F....Fornasari D. (2005)
81. Germline PHOX2B mutation in hereditary neuroblastoma. (PubMed id 15338462)¹ Mosse Y.P....Maris J.M. (2004)
82. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. (PubMed id 12438263)¹ Maris J.M....Shusterman S. (2002)
83. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
84. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. (PubMed id 10360575)¹ Pattyn A....Brunet J.F. (1999)
85. Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. (PubMed id 9374403)¹ Pattyn A....Brunet J.F. (1997)
86. Congenital Central Hypoventilat ion Syndrome (PubMed id 20301600)¹ Weese-Mayer D.E....Berry-Kravis E.M. (1993)
87. Identification of Phox2b-regulated genes by expression profiling of cranial motoneuron precursors. (PubMed id 18565209)⁹ Pla P....Goridis C. (2008)
88. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. (PubMed id 17045833)⁹ Bachetti T....Ceccherini I. (2007)
89. Central nervous system distribution of the transcription factor Phox2b in the adult rat. (PubMed id 17559094)⁹ Kang B.J....Stornetta R.L. (2007)
90. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. (PubMed id 14608649)⁹ Weese-Mayer D.E....Marazita M.L. (2003)
91. The role of Phox2b in synchronizing pan-neuronal and type-specific aspects of neurogenesis. (PubMed id 12399315)⁹ Dubreuil V....Goridis C. (2002)
92. Phox2b expression in the aldosterone-sensitive HSD2 neurons of the NTS. (PubMed id 18620340)⁹ Geerling J.C....Loewy A.D. (2008)
93. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. (PubMed id 16882781)⁹ Todd E.S....Marazita M.L. (2006)
94. PHOX2B mutations and genetic predisposition to neuroblastoma. (PubMed id 15735672)⁹ Perri P....Ceccherini I. (2005)
95. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (PubMed id 15949893)⁹ Bourdeaut F....Delattre O. (2005)
96. Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3. (PubMed id 19853745)⁹ Leon T.Y....Garcia-Barcelo M.M. (2009)
97. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. (PubMed id 19422034)⁹ Weese-Mayer D.E....Ceccherini I. (2009)
98. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. (PubMed id 15150159)⁹ Cross S.H....Jackson I.J. (2004)
99. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. (PubMed id 20208042)⁹ Weese-Mayer D.E....Trang H. (2010)
100. Interaction of Mash1 and Phox2b in sympathetic neuron development. (PubMed id 15033166)⁹ Stanke M....Rohrer H. (2004)
101. The Phox2b transcription factor coordinately regulates neuronal cell cycle exit and identity. (PubMed id 11060244)⁹ Dubreuil V....Goridis C. (2000)
102. A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome. (PubMed id 18785257)⁹ Parodi S....Ottonello G. (2008)
103. The expression of PHOX2A, PHOX2B and of their target gene dopamine-beta-hydroxylase (DbetaH) is not modified by exposure to extremely-low-frequency electromagnetic field (ELF-EMF) in a human neuronal model. (PubMed id 18572378)⁹ Benfante R....Fornasari D. (2008)
104. Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (PubMed id 17282973)⁹ Chen L.R....Hsieh W.S. (2007)
105. Central hypoventilation with PHOX2B expansion mutation presenting in adulthood. (PubMed id 17909190)⁹ Barratt S....Whittle A.T. (2007)
106. Sp proteins and Phox2b regulate the expression of the human Phox2a gene. (PubMed id 11549713)⁹ Flora A....Fornasari D. (2001)
107. Specification of the central noradrenergic phenotype by the homeobox gene Phox2b. (PubMed id 10736201)⁹ Pattyn A....Brunet J.F. (2000)
108. A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation. (PubMed id 19813116)⁹ Trobliger R....Higgins J.J. (2010)
109. PHOX2B mutations and ventilatory control. (PubMed id 18675942)⁹ Gallego J. and Dauger S. (2008)
110. Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (PubMed id 17270534)⁹ Ou-Yang M.C....Liu C.A. (2007)
111. Characterization of Xenopus Phox2a and Phox2b defines expression domains within the embryonic nervous system and early heart field. (PubMed id 15261839)⁹ Talikka M....Zimmerman K. (2004)
112. Comprehensive characterization of neuroblastoma cell line subtypes reveals bilineage potential similar to neural crest stem cells. (PubMed id 19216736)⁹ Acosta S....Mora J. (2009)
113. BMP signaling regulates sympathetic nervous system de velopment through Smad4-dependent and -independent pathways. (PubMed id 19793887)⁹ Morikawa Y....Cserjesi P. (2009)
114. Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. (PubMed id 18340402)⁹ Hennewig U....Hoehn T. (2008)
115. Effects of temperature on ventilatory response to hypercapnia in newborn mice heterozygous for transcription factor Phox2b. (PubMed id 17715184)⁹ Ramanantsoa N....Gallego J. (2007)
116. Late-onset central hypoventilation syndrome: a family genetic study. (PubMed id 17264323)⁹ Doherty L.S....McNicholas W.T. (2007)
117. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. (PubMed id 15930201)⁹ Bajaj R....Kluckow M. (2005)
118. Molecular control of ciliary neuron development: BMPs and downstream transcriptional control in the parasympathetic lineage. (PubMed id 12421710)⁹ Muller F. and Rohrer H. (2002)
119. Task2 potassium channels set central respiratory CO2 and O2 sensitivity. (PubMed id 20133877)⁹ Gestreau C....Barhanin J. (2010)
120. Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel. (PubMed id 20303419)⁹ Straus C....Similowski T. (2010)
121. Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome. (PubMed id 19953265)⁹ van Delft E....Bambang Oetomo S. (2010)
122. Novel MLPA procedure using self-designed probes allow s comprehensive analysis for CNVs of the genes involved in Hirschsprung disease . (PubMed id 20459765)⁹ SA!nchez-MejA-as A....Borrego S. (2010)
123. Cor pulmonale due to congenital central hypoventilati on syndrome presenting in adolescence. (PubMed id 19584633)⁹ Fine-Goulden M.R....Durward A. (2009)
124. Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder. (PubMed id 19452387)⁹ Grigg-Damberger M. and Wells A. (2009)
125. The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A. (PubMed id 19212675)⁹ WilzAcn A....Abel F. (2009)
126. Congenital Central Hypoventilation syndrome (Ondine's curse): prenatal diagnosis and fetal breathing characteristics. (PubMed id 19784002)⁹ Rajendran G.P....Manning F.A. (2009)
127. Congenital central hypoventilation syndrome. (PubMed id 17978458)⁹ Samdani P.G....Goel A. (2007)
128. Forced expression of Phox2 homeodomain transcription factors induces a branchio-visceromotor axonal phenotype. (PubMed id 17208219)⁹ Hirsch M.R....Goridis C. (2007)
129. Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. (PubMed id 16443855)⁹ de Pontual L....Amiel J. (2006)
130. [Ondine syndrome or central congenital hypoventilation syndrome] (PubMed id 16584036)⁹ Trang H. (2006)
131. Identification of a novel type II classical cadherin: rat cadherin19 is expressed in the cranial ganglia and Schwann cell precursors during development. (PubMed id 15580626)⁹ Takahashi M. and Osumi N. (2005)
132. Genetics and early disturbances of breathing control. (PubMed id 14739359)⁹ Gaultier C....Simonneau M. (2004)
133. Coordinated temporal and spatial control of motor neu ron and serotonergic neuron generation from a common pool of CNS progenitors. (PubMed id 12651891)⁹ Pattyn A....Ericson J. (2003)
134. Electroporation of proviral RCAS DNA alters gene expression in the embryonic chick hindbrain. (PubMed id 14628667)⁹ Hermann P.M. and Logan C.C. (2003)
135. The specification of noradrenergic locus coeruleus (LC) neurones depends on bone morphogenetic proteins (BMPs). (PubMed id 11861481)⁹ Vogel-Hopker A. and Rohrer H. (2002)

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