• Disease
  • Neural
  • Neural Tube
  • Neural Tube Defects
  • Valeria Capra

    Prominent publications by Valeria Capra

    KOL Index score: 13054

    Cerebral cavernous malformations (CCMs) are vascular lesions of the CNS characterized by abnormally enlarged capillary cavities. CCMs can occur as sporadic or familial autosomal dominant form. Familial cases are associated with mutations in CCM1[K-Rev interaction trapped 1 (KRIT1)], CCM2 (MGC4607) and CCM3 (PDCD10) genes. In this study, a three-gene mutation screening was performed by direct exon sequencing, in a cohort of 95 Italian patients either sporadic or familial, as well as on ...

    Also Ranks for: Cerebral Cavernous Malformation |  ccm3 genes |  italian patients |  ccm1 ccm2 |  familial cases
    KOL Index score: 12371

    BACKGROUND: Neural tube defects (NTDs), including anencephaly and spina bifida, have a complex etiology. Defects in the planar cell polarity (PCP) signaling pathway have been strongly associated with NTDs in animal models and human cohorts. In this genetic study, we examined the core PCP gene CELSR1 in NTDs and caudal agenesis cases to determine whether mutations at this gene predispose to these defects.

    METHODS: We sequenced the coding region and the exon-intron junctions of CELSR1 in a ...

    Also Ranks for: Neural Tube Defects |  cell polarity |  caudal agenesis |  missense mutations |  pathogenic role pcp
    KOL Index score: 11749

    Wnt signaling has been classified as canonical Wnt/β-catenin-dependent or non-canonical planar cell polarity (PCP) pathway. Misregulation of either pathway is linked mainly to cancer or neural tube defects (NTDs), respectively. Both pathways seem to antagonize each other, and recent studies have implicated a number of molecular switches that activate one pathway while simultaneously inhibiting the other thereby partially mediating this antagonism. The lipoprotein receptor-related protein ...

    Also Ranks for: Neural Tube |  cell polarity |  pcp pathway |  human ntds |  wnt signaling
    KOL Index score: 11288

    Neural tube defects (NTDs) are a heterogeneous group of common severe congenital anomalies which affect 1-2 infants per 1000 births. Most genetic and/or environmental factors that contribute to the pathogenesis of human NTDs are unknown. Recently, however, pathogenic mutations of VANGL1 and VANGL2 genes have been associated with some cases of human NTDs. Vangl genes encode proteins of the planar cell polarity (PCP) pathway that regulates cell behavior during early stages of neural tube ...

    Also Ranks for: Tube Defects |  cell polarity |  ntds humans |  pcp genes |  proteins mice
    KOL Index score: 9472

    BACKGROUND: Planar cell polarity (PCP) is a major branch of Wnt signaling that controls the process of convergent extension in gastrulation and neurulation. PCP defects were associated with neural tube defects (NTDs) that are the most common central nervous system anomalies. PCP signaling is highly dosage sensitive and exhibits an antagonistic relationship with the canonical Wnt/β-catenin pathway. Diversin, encoded by Ankrd6, is an ankyrin repeat protein that activates the non canonical ...

    Also Ranks for: Wnt Signaling |  neural tube |  genetic studies |  convergent extension |  coding region
    KOL Index score: 9297

    The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure, and has been implicated in the pathogenesis of neural tube defects (NTDs) in animal models and human cohorts. In this study, we analyzed the role of one core PCP gene PRICKLE1 in these malformations. We screened this gene in 810 unrelated NTD patients and identified seven rare missense heterozygous mutations that were absent in all controls analyzed and ...

    Also Ranks for: Neural Tube |  rare mutations |  polarity gene |  planar cell |  animal models
    KOL Index score: 9271

    OBJECTIVE: To estimate the risk for spina bifida associated with the common mutation C677T of the MTHFR gene in a country with a relatively low prevalence of NTDs.

    DESIGN: Case-control study.


    CASES: 203 living patients affected with spina bifida (173 myelomeningocele and 30 lipomeningocele); controls: 583 subjects (306 young adults and 277 unselected newborns) from northern and central-southern Italy.


    CASES: three spina bifida centres; young adult controls: DNA ...

    Also Ranks for: Spina Bifida |  c677t mutation |  moderate risk factor |  reductase gene |  case control
    KOL Index score: 9241

    BACKGROUND: Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic ...

    Also Ranks for: Situ Hybridization |  developmental delay |  ywhae crk genes |  human pair |  classical lissencephalies
    KOL Index score: 9110

    Vangl2 was identified as the gene defective in the Looptail (Lp) mouse model for neural tube defects (NTDs). This gene forms part of the planar cell polarity (PCP) pathway, also called the non-canonical Frizzled/Dishevelled pathway, which mediates the morphogenetic process of convergent extension essential for proper gastrulation and neural tube formation in vertebrates. Genetic defects in PCP signaling have strongly been associated with NTDs in mouse models. To assess the role of VANGL2 ...

    Also Ranks for: Neural Tube |  vangl2 mutations |  genetic defects |  spinal ntds |  pcp pathway
    KOL Index score: 9029

    Neural tube defects are severe malformations affecting 1/1,000 live births. The planar cell polarity pathway controls the neural tube closure and has been implicated in the pathogenesis of neural tube defects both in animal models and human cohorts. In mouse disruption of Dvl2 alone (Dvl2 (-/-)) or Dvl2 and Dvl3 (Dvl2 (-/-); Dvl3 (+/-), Dvl2 (+/-); Dvl3 (-/-)) results in incomplete neurulation, suggesting a ...

    Also Ranks for: Neural Tube Defects |  genetic analysis |  rare variants |  dvl2 dvl3 |  cell polarity
    KOL Index score: 8735

    We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound mutants (Pcsk5(Vcc/null)) completely recapitulate the Pcsk5(Vcc/Vcc) phenotype, as does an ...

    Also Ranks for: Proprotein Convertase |  pcsk5 mutation |  developmental genes |  caudal regression |  presacral mass
    KOL Index score: 8575

    Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed ...

    Also Ranks for: Neurofibromatosis Type |  children nf1 |  moyamoya syndrome |  mms patients |  neurofibromin 1
    KOL Index score: 8518

    Neural tube defects (NTDs) are severe malformations of the central nervous system, affecting 1 of 1,000 live births. Mouse models were instrumental in defining the signaling pathways defective in NTDs, including the planar cell polarity (PCP), also called noncanonical Frizzled/Disheveled pathway. Based on the highly penetrant occurrence of NTDs in double Fzd3/Fzd6(-/-) mutant mice, we investigated the role of the human orthologues, FZD3 and FZD6, by resequencing a cohort of 473 NTDs ...

    Also Ranks for: Neural Tube |  fzd6 gene |  pcp pathway |  mouse models |  defects ntds
    KOL Index score: 8457

    BACKGROUND: PHACE syndrome (Posterior fossa malformations, large cervicofacial infantile Hemangiomas, Arterial anomalies, aortic coarctation and Cardiac abnormalities, and Eye abnormalities) is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and recently have been categorized based on the risk of acute ischemic stroke, increasing attention to the potentially ...

    Also Ranks for: Phace Syndrome |  moyamoya vasculopathy |  eye abnormalities |  posterior fossa malformations |  arterial anomalies


    Valeria Capra: Influence Statistics

    Sample of concepts for which Valeria Capra is among the top experts in the world.
    Concept World rank
    prom1 gene expression #1
    transsphenoidal cephalocele age #1
    celsr1 neural #1
    nadp disease humans #1
    analysis disheveled #1
    celsr1 cohort #1
    rib malformations patients #1
    gene xlinked ciliopathy #1
    complex etiology large #1
    cldn variants #1
    distinctive genetic profile #1
    rhabdoid tumor predispositions #1
    closure implicated #1
    reviewed cases controls #1
    vangl1 mutations #1
    prom1 neoplasms child #1
    tyr667cys #1
    tp53 mlh1 mutations #1
    novo mgc4607 #1
    ntds gene #1
    major genes genetics #1
    basal ganglia anomalies #1
    ntd vangl2 #1
    cases mnx1 #1
    onset cavernous #1
    ectopic iliac rib #1
    par3 pcp protein #1
    pdcd10 gene variation #1
    mutations scrib1 #1
    agenesis predicted #1
    cavernous missense pedigree #1
    genes neurulation #1
    paternal inherited cnvs #1
    iliac rib #1
    spinal lipoma presence #1
    cohort 473 #1
    partial knockdown scrib1 #1
    megalencephaly genetic #1
    c18011802insg #1
    str multiplex assay #1
    ankrd6 ntds #1

    Key People For Neural Tube Defects

    Top KOLs in the world
    Gary M Shaw
    spina bifida preterm birth united states
    J David Erickson
    united states folic acid birth defects
    Andrew Endre Czeizel
    congenital abnormalities pregnant women folic acid
    James L Mills
    neural tube defects folic acid vitamin b12
    Andrew J Copp
    neural tube spina bifida folic acid
    John Martin Scott
    folic acid vitamin b12 neural tube defects

    Valeria Capra:Expert Impact

    Concepts for whichValeria Caprahas direct influence:Neural tube defects,  Neural tube,  Spina bifida,  Tube defects,  Moyamoya vasculopathy,  Currarino syndrome,  Phace syndrome,  Neurofibromatosis type.

    Valeria Capra:KOL impact

    Concepts related to the work of other authors for whichfor which Valeria Capra has influence:Neural tube defects,  Spina bifida,  Chromosome inactivation,  Folic acid,  Cell polarity,  Xist rna,  Cortical development.



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    Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy | Giannina Gaslini Children's Hospital, Genova, GE 16147, Italy. | Medical Genetic Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy | Medical Genetic Unit, IRCCS Istituto G.Gasl