Mécanismes moléculaires de neurocristopathies pigmentaires et vasculaires

Neurocristopathies pigmentovasculaires

Des malformations à la naissance, ou congénitales, de la population de cellules souches qui s'appelle la crête neurale s'appellent également des neurocristopathies. Des formes fréquentes touchent préférentiellement le palais, les yeux et/ou le coeur, mais il y a des douzaines d'autres maladies plus rares qui touchent les systèmes plus disseminés tels la peau ou le système nerveux périphérique. Alors qu'on connait depuis une dizaine d'années de plus en plus de bases génétiques des neurocristopathies, la plupart restent encore aujourd'hui sans diagnostic moléculaire et parfois sont mal définies en tant qu'entités cliniques.

Nous avons historiquement focalisé nos efforts sur des syndromes apparentés de malformations concernant la peau parmi d'autres systèmes d'organes. Ceux-ci sont le résultat de mutations post-zygotiques retrouvées également dans de multiples cancers à l'âge adulte. Cela veut dire que quelque chose dans le moment de la survenue de la mutation (avant ou après la naissance) ou, plus exactement, dans le contexte autour de et dans la cellule mutée à ces moments de sa vie, qui influe sur combien de telles mutations sont réellement "oncogéniques". Dans les deux cas de figure, l'organisme humain est en réalité un mosaïque de cellules atteintes par de telles mutations et d'autres qui ne le sont pas. Leurs interactions au fil du développement embryonnaire et foetal peuvent être pathogéniques.

Nos modèles de souris montrent qu'il est possible de phénocopier d'autres syndromes congénitaux pédiatriques en dirigeant les mêmes mutations "oncogéniques" à de dérivés distincts de la crête neurale multipotente au fil de sa différenciation. Ainsi, leurs dérivés dans la peau mais également dans le système nerveux périphérique, dans le coeur, dans l'hypophyse ou dans le crâne peuvent en montrer les effets. La caractérisation de ces modèles et la recherche de mutations équivalentes dans les tissus atteints dans de cohortes de patients pertinents pourront mener à un diagnostic amélioré et un traitement plus ciblé pour de nombreuses maladies rares. Nous complétons ces travaux par des études sur des cellules issues de patients et des cellules souches pluripotentes induites puis redifférenciées.

Détermination des modificateurs moléculaires et causes génétiques du naevus géant congénital

Le naevus géant (ou moins géant) congénital (NGC) est une malformation visible d'une partie de la peau, présente à la naissance. Il peut être isolé, stable et restreint, ou associé en syndrome avec d'autres symptômes cutanés, neurologiques ou oncologiques.

Depuis plus de 10 ans, nous étudions les effets des voies de signalisation assez universelles mais qui sont activées dans les précurseurs embryologiques aux cellules pigmentaires des NGC avec de multiples approches expérimentales et ressources :

  • Des spécimens recueillis après les interventions chirurgicales ou l'analyse anatomie-pathologie et avec accord des familles
  • Des cellules pluripotentes induits issues de patients ou de donneurs non atteints
  • De la transcriptomique comparative dans des cultures primaires issues de la crête neurale de souris transgéniques chez qui des mutations équivalentes à celles des patients ont été induites spécifiquement dans ses progéniteurs
  • De la characterisation phénotypique de modèles de souris à des moments d'induction de mutation somatique dans de compartiments cellulaires précis au fil de la vie pré- et post-natale.

Identification des effecteurs intracellulaires dans des malformations vasculaires et neurocristopathiques

Nous continuons à étudier en rapport avec les projets sur le NGC, les origines moléculaires et embryologiques de certaines malformations vasculaires afin d'identifier des stratégies pour prévenir leur évolution postnatale. Comme dans le NGC, des mutations somatiques de gènes codant des enzymes de la voie RAS-RAF (MAPK) ou dans la voie PI3K, propagées dans certains composants périvasculaires, sont à l'origine de ces maladies rares et sont parfois létales. De telles mutations semblent exister en épistase à un héritage de fond génétique permissif.

Ces recherches ont des implications importantes pour comprendre la pathophysiologie de certaines syndromes rares pédiatriques qui touchent aux systèmes cardiovasculaire, endocriniennes ou craniofaciales.

These non-profits support our work

Asociación Española de Nevus Gigante Congénito
Fondation Maladies Rares
Association du Naevus Géant Congénital
CREST-NET
Association Anna
l'Association française pour la myopathie (AFM)-Téléthon
French Human Developmental Cell Atlas project
GenMed


Publications

Haniffa, M.  et al. 2021

Human Developmental Cell Atlas: milestones achieved and the roadmap ahead

The Human Developmental Cell Atlas (HDCA), as part of the Human Cell Atlas, aims to generate a comprehensive reference map of cells during development. This detailed study of development will be...
Nature - issue: 7875 - volume: 597 - pages: 196-205.

Oei, W.  et al. 2021

Development of an international core domain set for medium, large and giant congenital melanocytic nevi as a first step towards a core outcome set for clinical practice and research


Br J Dermatol - issue: 185 - volume: 2 - pages: 371-379.

Etchevers, HC.  et al. 2021

Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: 10.1007/978-1-0716-1056-5_6 - volume: 2235 - pages: 61-87.

Calbet-Llopart, N.  et al. 2020

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies...
Pigment Cell Melanoma Res - issue: 5 - volume: 33 - pages: 685-694.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and limbs...
Am. J. Surg. Pathol. - issue: 10 - volume: 44 - pages: 1398-1405.

Macagno, N.  et al. 2019

Grading of meningeal solitary fibrous tumors/hemangiopericytomas: analysis of the prognostic value of the Marseille Grading System in a cohort of 132 patients

The finding that meningeal solitary fibrous tumors (SFTs) and meningeal hemangiopericytomas (HPCs) are both characterized by NAB2-STAT6 gene fusion has pushed their inclusion in the WHO 2016...
Brain Pathol. - issue: 1 - volume: 29 - pages: 18-27.

Fultang, L.  et al. 2019

Macrophage-Derived IL1beta and TNFalpha Regulate Arginine Metabolism in Neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res. - issue: 3 - volume: 79 - pages: 611-624.

Jaouadi, H.  et al. 2019

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple...
Genet Res (Camb) - issue: - volume: 101 - pages: e6.

Etchevers, H.  et al. 2019

The diverse neural crest: from embryology to human pathology

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
Development - issue: - volume: 146(5) - pages: dev.169821.

Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules


Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.

Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (?MSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.

Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .

Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.

Boeva, V.  et al. 2017

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

Neuroblastoma is a tumor of the peripheral sympathetic nervous system, derived from multipotent neural crest cells (NCCs). To define core regulatory circuitries (CRCs) controlling the gene expression...
Nat. Genet. - issue: 9 - volume: 49 - pages: 1408-1413.

Chassaing, N.  et al. 2016

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are...
Genome Res. - issue: 4 - volume: 26 - pages: 474-485.

Price, HN.  et al. 2015

Practical application of the new classification scheme for congenital melanocytic nevi

A new consensus-based classification of congenital melanocytic nevi (CMN) has recently been proposed. It includes categories for projected adult size (PAS) and location, satellite nevi counts, and...
Pediatr Dermatol - issue: 1 - volume: 32 - pages: 23-27.

Etchevers, HC.  et al. 2014

Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi

Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system...
J. Invest. Dermatol. - issue: 4 - volume: 134 - pages: 879-882.

Yajima, I.  et al. 2013

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.

Golzio, C.  et al. 2012

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS ONE - issue: 1 - volume: 7 - pages: e30677.

Krupp, DR.  et al. 2012

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)

BACKGROUND: Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established...
Birth Defects Res. Part A Clin. Mol. Teratol. - issue: 9 - volume: 94 - pages: 683-692.

Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.

Van Der Werf, CS.  et al. 2012

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with...
Gastroenterology - issue: 3 - volume: 142 - pages: 453-462.e3.

Etchevers, H.  et al. 2011

Primary culture of chick, mouse or human neural crest cells

A highly enriched population of neural crest cells (NCCs) from amniote embryos, such as from chicks, mice and humans, is desirable for experiments in fate determination. NCCs are also useful for...
Nat Protoc - issue: 10 - volume: 6 - pages: 1568-1577.

Macé, M.  et al. 2011

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

PURPOSE: To decipher the biological pathways involved in keratoconus pathophysiology by determining the patterns of differential gene expression between keratoconus and control corneas. METHODS: RNA...
Invest Ophthalmol Vis Sci - issue: 9 - volume: 52 - pages: 6181-6191.

Krengel, S.  et al. 2011

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, T


Pigment Cell Melanoma Res - issue: 4 - volume: 24 - pages: E1-6.

Cognet, M.  et al. 2011

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

de Pontual, L.  et al. 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

Thomas, S.  et al. 2010

High-throughput sequencing of a 4.1?Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or...
Hum. Mutat. - issue: 10 - volume: 31 - pages: 1134-1141.

Chaabouni, M.  et al. 2010

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.

Bessi, .  et al. 2009

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases

Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with...
Eur J Med Genet - issue: 6 - volume: 52 - pages: 386-392.

de Pontual, L.  et al. 2009

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either...
Proc. Natl. Acad. Sci. U.S.A. - issue: 33 - volume: 106 - pages: 13921-13926.

Boissel, S.  et al. 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been...
Am. J. Hum. Genet. - issue: 1 - volume: 85 - pages: 106-111.

Chassaing, N.  et al. 2009

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic...
Hum. Mutat. - issue: 5 - volume: 30 - pages: E673-681.

de Pontual, L.  et al. 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that...
Hum. Mutat. - issue: 4 - volume: 30 - pages: 669-676.

Benko, S.  et al. 2009

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...
Nat. Genet. - issue: 3 - volume: 41 - pages: 359-364.

Sajedi, E.  et al. 2008

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.

Thomas, S.  et al. 2008

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...
Hum. Mol. Genet. - issue: 21 - volume: 17 - pages: 3411-3425.

Lequeux, L.  et al. 2008

Confirmation of RAX gene involvement in human anophthalmia

Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia....
Clin. Genet. - issue: 4 - volume: 74 - pages: 392-395.

de Pontual, L.  et al. 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...
Eur. J. Cancer - issue: 16 - volume: 43 - pages: 2366-2372.

Golzio, C.  et al. 2007

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...
Am. J. Hum. Genet. - issue: 6 - volume: 80 - pages: 1179-1187.

Etchevers, H.  et al. 2007

[Genetic and molecular bases of neurocristopathies]


Arch Pediatr - issue: 6 - volume: 14 - pages: 668-672.

Baala, L.  et al. 2007

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.

Martinovic-Bouriel, J.  et al. 2007

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.

Etchevers, HC.  et al. 2006

Molecular bases of human neurocristopathies


Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.

Golzio, C.  et al. 2006

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic...
Prenat. Diagn. - issue: 13 - volume: 26 - pages: 1201-1205.

Sanlaville, D.  et al. 2006

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and...
J. Med. Genet. - issue: 3 - volume: 43 - pages: 211-217.

Etchevers, HC.  et al. 2005

The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo

NF-E2-related factor 3 (Nrf3) is a recently identified member of a family of transcription factors homologous to the Drosophila "cap 'n' collar" or CNC protein. The cnc gene is located immediately 3'...
Int. J. Dev. Biol. - issue: 2-3 - volume: 49 - pages: 363-367.

Deak, KL.  et al. 2005

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been...
Hum. Genet. - issue: 2-3 - volume: 117 - pages: 133-142.

Detrait, E.  et al. 2005

[Vascularization of the head and neck during development]

One of the earliest priorities of the embryonic vascular system is to ensure the metabolic needs of the head. This review covers some of the principles that govern the cellular assembly and...
J Neuroradiol - issue: 3 - volume: 32 - pages: 147-156.

Detrait, ER.  et al. 2005

Human neural tube defects: developmental biology, epidemiology, and genetics

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are...
- issue: - volume: - pages: .

Cai, J.  et al. 2005

Gene expression in pharyngeal arch 1 during human embryonic development

Craniofacial abnormalities are one of the most common birth defects in humans, but little is known about the human genes that control these important developmental processes. To identify relevant...
Hum. Mol. Genet. - issue: 7 - volume: 14 - pages: 903-912.

Karmous-Benailly, H.  et al. 2005

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other...
Am. J. Hum. Genet. - issue: 3 - volume: 76 - pages: 493-504.

Trueba, SS.  et al. 2005

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism, a condition that affects about one in 4000 newborns. Mutations in PAX8, TITF1, or FOXE1 may account for congenital...
J. Clin. Endocrinol. Metab. - issue: 1 - volume: 90 - pages: 455-462.

Pinson, L.  et al. 2004

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome


J. Med. Genet. - issue: 5 - volume: 41 - pages: 381-386.

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.

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.

Etchevers, HC.  et al. 2001

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain

Most connective tissues in the head develop from neural crest cells (NCCs), an embryonic cell population present only in vertebrates. We show that NCC-derived pericytes and smooth muscle cells are...
Development - issue: 7 - volume: 128 - pages: 1059-1068.

Duprez, D.  et al. 1999

Expression of Frzb-1 during chick development

We cloned the chick homolog of Xenopus and mouse Frzb-1, a secreted Wnt antagonist and performed in situ hybridizations to determine the pattern of cFrzb-1 expression in the developing chick embryo....
Mech. Dev. - issue: 1-2 - volume: 89 - pages: 179-183.

Etchevers, HC.  et al. 1999

Anterior cephalic neural crest is required for forebrain viability

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part...
Development - issue: 16 - volume: 126 - pages: 3533-3543.