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Amiel, J.  et al. 2003

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

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core...
Nat. Genet. - issue: 4 - volume: 33 - pages: 459-461.

Etchevers, HC.  et al. 2003

Early expression of hypoxia-inducible factor 1alpha in the chicken embryo

Hypoxia is known to regulate angiogenesis and tissue growth by the induction of the alpha subunit of the heterodimeric transcription factor, hypoxia-inducible factor 1. The expression pattern of...
Gene Expr. Patterns - issue: 1 - volume: 3 - pages: 49-52.

Vorsanova, SG.  et al. 2002

[Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients]

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 gene (MECP2). We carried out a mutations analysis in Russian cohort of patients with...
Zh Nevrol Psikhiatr Im S S Korsakova - issue: 10 - volume: 102 - pages: 23-29.

Bienvenu, T.  et al. 2002

Spectrum of MECP2 mutations in Rett syndrome

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. We have collected the results of MECP2...
Genet. Test. - issue: 1 - volume: 6 - pages: 1-6.

Zaffran, S.  et al. 2002

Cardiogenesis in the Drosophila model: control mechanisms during early induction and diversification of cardiac progenitors

The dorsal vessel of Drosophila displays developmental, functional, and morphological similarities to the primitive linear heart tube of early vertebrate embryos. Because these similarities extend to...
Cold Spring Harb. Symp. Quant. Biol. - issue: - volume: 67 - pages: 1-12.

Fanin, M.  et al. 2002

Muscle pathology in dysferlin deficiency

Dysferlin deficiency is being increasingly recognized in limb-girdle dystrophy and distal myopathy but its role in the development of muscle pathology is still poorly understood. For this purpose, 26...
Neuropathol. Appl. Neurobiol. - issue: 6 - volume: 28 - pages: 461-470.

Braybrook, C.  et al. 2002

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients

Cleft palate with ankyloglossia (CPX; MIM 303400) is inherited as a Mendelian, semidominant X-linked disorder and has been described in several large families from different ethnic origins. It is a...
Hum. Mol. Genet. - issue: 22 - volume: 11 - pages: 2793-2804.

Etchevers, HC.  et al. 2002

Morphogenesis of the branchial vascular sector

The branchial and dorsal cephalic vascular sectors correspond to the blood vessels contained within evolutionarily recent and ancestral parts of the head, respectively. Recent work demonstrates that...
Trends Cardiovasc. Med. - issue: 7 - volume: 12 - pages: 299-304.

Zaffran, S.  et al. 2002

Early signals in cardiac development

The heart is the first organ to form during embryogenesis and its circulatory function is critical from early on for the viability of the mammalian embryo. Developmental abnormalities of the heart...
Circ. Res. - issue: 6 - volume: 91 - pages: 457-469.

Magdinier, F.  et al. 2002

Epigenetic marks at BRCA1 and p53 coding sequences in early human embryogenesis

In the vertebrate genome, methylation of deoxycytosine residues of CpGs dinucleotide has been associated with transcriptional silencing of genes, parental imprinting, X-inactivation and chromatin...
Mol. Hum. Reprod. - issue: 7 - volume: 8 - pages: 630-635.

Chartier, A.  et al. 2002

Pericardin, a Drosophila type IV collagen-like protein is involved in the morphogenesis and maintenance of the heart epithelium during dorsal ectoderm closure

The steps that lead to the formation of a single primitive heart tube are highly conserved in vertebrate and invertebrate embryos. Concerted migration of the two lateral cardiogenic regions of the...
Development - issue: 13 - volume: 129 - pages: 3241-3253.

Zaffran, S.  et al. 2002

The beta 3 tubulin gene is a direct target of bagpipe and biniou in the visceral mesoderm of Drosophila

Previous studies have identified the NK homeobox gene bagpipe and the FoxF fork head domain gene biniou as essential regulators of visceral mesoderm development in Drosophila. Here we present...
Mech. Dev. - issue: 1-2 - volume: 114 - pages: 85-93.

Billard, L.  et al. 2002

MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland

During the last years, a direct link between DNA methylation and repressive chromatin structure has been established. This structural modification is mediated by histone deacetylases targeted to the...
Oncogene - issue: 17 - volume: 21 - pages: 2704-2712.

Villard, L.  et al. 2002

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)

Eur. J. Hum. Genet. - issue: 4 - volume: 10 - pages: 223-225.

Villard, L.  et al. 2002

A locus for bilateral perisylvian polymicrogyria maps to Xq28

Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and...
Am. J. Hum. Genet. - issue: 4 - volume: 70 - pages: 1003-1008.

Bachelier, R.  et al. 2002

Retroviral transduction of splice variant Brca1-Delta11 or mutant Brca1-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia

We have investigated the effects of the expression of wild-type and mutant Brca1 alleles on the murine mammary gland morphogenesis and carcinogenesis. Primary cultures of mammary cells from...
Virchows Arch. - issue: 3 - volume: 440 - pages: 261-266.

Lossi, AM.  et al. 2002

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a...
J. Med. Genet. - issue: 2 - volume: 39 - pages: 113-117.

Moncla, A.  et al. 2002

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

Numerous recent reports have proposed that mutations in the C-terminal domain of the MECP2 gene could be a frequent cause of mental retardation in males. We have identified two mutations in this...
Eur. J. Hum. Genet. - issue: 1 - volume: 10 - pages: 86-89.

Gaillard, S.  et al. 2001

Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1

Caveolins are scaffolding proteins able to collect on caveolae a large number of signalling proteins bearing a caveolin-binding motif. The proteins of the striatin family, striatin, SG2NA, and...
FEBS Lett. - issue: 1 - volume: 508 - pages: 49-52.

Gaillard, S.  et al. 2001

Striatin, a calmodulin-dependent scaffolding protein, directly binds caveolin-1

Caveolins are scaffolding proteins able to collect on caveolae a large number of signalling proteins bearing a caveolin-binding motif. The proteins of the striatin family, striatin, SG2NA, and...
FEBS Lett. - issue: 1 - volume: 508 - pages: 49-52.