In Vitro studies of non poly alanine PHOX2B mutations argue against a loss‐of‐function mechanism for congenital central hypoventilation
暂无分享,去创建一个
A. Munnich | S. Lyonnet | C. Goridis | R. Savarirayan | J. Amiel | D. Trochet | L. Pontual | J. Brunet | Y. Mathieu | Loïc de Pontual
[1] A. Munnich,et al. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. , 2008, American journal of respiratory and critical care medicine.
[2] J. Gallego,et al. A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons , 2008, Proceedings of the National Academy of Sciences.
[3] J. Maris,et al. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma , 2008, Oncogene.
[4] R. Veitia,et al. Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development. , 2007, Human molecular genetics.
[5] A. Munnich,et al. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease , 2007, Human mutation.
[6] E. Berry-Kravis,et al. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. , 2006, American journal of respiratory and critical care medicine.
[7] B. Malow,et al. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. , 2006, American journal of respiratory and critical care medicine.
[8] N. Rahman,et al. PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations , 2006, American journal of medical genetics. Part A.
[9] A. Munnich,et al. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. , 2005, Human molecular genetics.
[10] R. Veitia,et al. Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation. , 2005, Human molecular genetics.
[11] Isabelle Janoueix-Lerosey,et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. , 2005, Cancer letters.
[12] B. Habecker,et al. ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a , 2005, Journal of neurochemistry.
[13] J. Gallego,et al. Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b. , 2005, American journal of respiratory and critical care medicine.
[14] A. Munnich,et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. , 2005, American journal of human genetics.
[15] P. Robinson,et al. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. , 2004, Human molecular genetics.
[16] Mark R. Segal,et al. Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death , 2004, Nature.
[17] A. Munnich,et al. PHOX2B gene mutation in a patient with late‐onset central hypoventilation , 2004, Pediatric pulmonology.
[18] E. Rappaport,et al. Germline PHOX2B mutation in hereditary neuroblastoma. , 2004, American journal of human genetics.
[19] A. Munnich,et al. Polyalanine expansions in human. , 2004, Human molecular genetics.
[20] A. Radu,et al. Paired-Type Homeodomain Transcription Factors Are Imported into the Nucleus by Karyopherin 13 , 2004, Molecular and Cellular Biology.
[21] R. Ravazzolo,et al. 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 , 2004, Journal of Medical Genetics.
[22] A. Munnich,et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. , 2004, American journal of human genetics.
[23] B. Maher,et al. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b , 2003, American journal of medical genetics. Part A.
[24] Tomohiko Nakamura,et al. Molecular analysis of congenital central hypoventilation syndrome , 2003, Human Genetics.
[25] M. Vekemans,et al. PMX2B, a new candidate gene for Hirschsprung's disease , 2003, Clinical genetics.
[26] A. Munnich,et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome , 2003, Nature Genetics.
[27] H. Namba,et al. Functional domains of paired‐like homeoprotein Cart1 and the relationship between dimerization and transcription activity , 2002, Genes to cells : devoted to molecular & cellular mechanisms.
[28] M. Adachi,et al. The Paired-like Homeodomain Protein, Arix, Mediates Protein Kinase A-stimulated Dopamine β-Hydroxylase Gene Transcription through Its Phosphorylation Status* , 2002, The Journal of Biological Chemistry.
[29] Kwang-Soo Kim,et al. A direct role of the homeodomain proteins Phox2a/2b in noradrenaline neurotransmitter identity determination , 2002, Journal of neurochemistry.
[30] C. H. Kim,et al. Structural and functional characterization of the 5′ upstream promoter of the human Phox2a gene: possible direct transactivation by transcription factor Phox2b , 2001, Journal of neurochemistry.
[31] M. Adachi,et al. Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription. , 2000, DNA and cell biology.
[32] X. Morin,et al. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives , 1999, Nature.
[33] X. Morin,et al. Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. , 1997, Development.
[34] M. Kozak. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes , 1986, Cell.
[35] R. Ravazzolo,et al. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. , 2007, The international journal of biochemistry & cell biology.
[36] P. Muchowski,et al. Modulation of neurodegeneration by molecular chaperones , 2005, Nature Reviews Neuroscience.
[37] R. Ravazzolo,et al. An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. , 2005, Gene expression.