• Disease
  • Cleft
  • Cleft Palate
  • Philip M Stanier

    Prominent publications by Philip M Stanier

    KOL Index score: 13400

    Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, and Tp53 have been described in individual CMN samples; however, their role in the pathogenesis of multiple CMN within the same subject and development of associated features has not been clear. We hypothesized that a single postzygotic mutation in NRAS could be responsible for multiple CMN in the same individual, as well as for melanocytic and ...

    Also Ranks for: Neurocutaneous Melanosis |  multiple cmn |  melanocytic nevi |  genetic predisposition |  nras mutation
    KOL Index score: 11984

    Craniorachischisis (CRN) is a severe neural tube defect (NTD) resulting from failure to initiate closure, leaving the hindbrain and spinal neural tube entirely open. Clues to the genetic basis of this condition come from several mouse models, which harbor mutations in core members of the planar cell polarity (PCP) signaling pathway. Previous studies of humans with CRN failed to identify mutations in the core PCP genes, VANGL1 and VANGL2. Here, we analyzed other key PCP genes: CELSR1, ...

    Also Ranks for: Planar Cell Polarity |  neural tube |  genes celsr1 |  mutations scrib |  plasma membrane
    KOL Index score: 11752

    The T-box transcription factor TBX22 is essential for normal craniofacial development, as demonstrated by the finding of nonsense, frameshift, splice-site, or missense mutations in patients with X-linked cleft palate (CPX) and ankyloglossia. To better understand the function of TBX22, we studied 10 different naturally occurring missense mutations that are phenotypically equivalent to loss-of-function alleles. Since all missense mutations are located in the DNA-binding T-box domain, we ...

    Also Ranks for: Missense Mutations |  cleft palate |  dna binding |  sitedirected mutation |  function tbx22
    KOL Index score: 11742

    Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth failure and other dysmorphic features. The syndrome is genetically heterogeneous, but maternal uniparental disomy of chromosome 7 has been demonstrated in approximately 7% of cases. This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of SRS. We have identified a de novo duplication of 7p11.2-p13 in a proband with features characteristic of SRS. FISH confirmed the ...

    Also Ranks for: Human Pair |  russell syndrome |  situ hybridization |  preschool chromosomes |  fluorescence infant
    KOL Index score: 11569

    BACKGROUND: Imprinted genes show expression from one parental allele only and are important for development and behaviour. This extreme mode of allelic imbalance has been described for approximately 56 human genes. Imprinting status is often disrupted in cancer and dysmorphic syndromes. More subtle variation of gene expression, that is not parent-of-origin specific, termed 'allele-specific gene expression' (ASE) is more common and may give rise to milder phenotypic differences. Using two ...

    Also Ranks for: Imprinted Genes |  specific gene |  human term placenta |  expression ase |  imprinting status
    KOL Index score: 11097

    The epigenetic phenomenon of genomic imprinting provides an additional level of gene regulation that is confined to a limited number of genes, frequently, but not exclusively, important for embryonic development. The evolution and maintenance of imprinting has been linked to the balance between the allocation of maternal resources to the developing fetus and the mother's well being. Genes that are imprinted in both the embryo and extraembryonic tissues show extensive conservation between ...

    Also Ranks for: Human Placenta |  genetic evolution |  igf type |  gene regulation |  genomic imprinting
    KOL Index score: 10678

    The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including fifth finger clinodactyly and skeletal asymmetry. The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, and 18 have been associated with SRS and SRS-like cases. However, only chromosomes 7 and 17 have ...

    Also Ranks for: Genetic Aetiology |  genomic imprinting |  srs patients |  russell syndrome |  human pair
    KOL Index score: 10516

    The GRB10 gene encodes a growth suppressor and maps to human chromosome 7p11.2-p13. Maternal duplication (matdup) of this region has recently been associated with Silver-Russell syndrome (SRS), which is characterised by pre- and postnatal growth restriction, craniofacial dysmorphism and lateral asymmetry. Maternal uniparental disomy for chromosome 7 (mUPD7) occurs in approximately 7% of SRS patients. Exposure of a recessive allele due to isodisomy has been ruled out in five mUPD7 cases, ...

    Also Ranks for: Grb10 Gene |  srs patients |  russell syndrome |  genomic imprinting |  human chromosome
    KOL Index score: 10454

    3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which ...

    Also Ranks for: Complement Pathway |  3mc syndrome |  cleft lip |  binding lectin |  craniofacial abnormalities
    KOL Index score: 10388

    Neural tube defects (NTDs), such as spina bifida, are common and severe birth defects in humans but the underlying causes are poorly understood. The pathogenesis and etiology of spina bifida in the curly tail mouse closely resemble defects in humans, providing a well-characterized model of NTDs. Grainyhead-like-3 (Grhl3), which encodes a transcription factor, was recently identified as a candidate gene for curly tail based on chromosomal location and the occurrence of spina bifida in ...

    Also Ranks for: Spina Bifida |  curly tail |  mouse model |  grhl3 expression |  mutation neural
    KOL Index score: 10329

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we ...

    Also Ranks for: Cleft Palate |  grhl3 nscpo |  woude syndrome |  single nucleotide |  predisposition disease


    Philip M Stanier: Influence Statistics

    Sample of concepts for which Philip M Stanier is among the top experts in the world.
    Concept World rank
    prevalent birth defects #1
    hypertrophic lingual frenulum #1
    classic methods gene #1
    effects fgfr2c overexpression #1
    fgfr2c null #1
    fgfr2c overexpression #1
    systemsthe changing concept #1
    sumo1 disruption manifests #1
    mutation palate receptors #1
    dominant ankyloglossia #1
    sumoylation craniofacial #1
    mutations ptdss1 #1
    proteins genetic events #1
    tooth anomalies ankyloglossia #1
    fgf sumo modification #1
    null fgfr2c #1
    reports underlying pathology #1
    nscl gwas data #1
    crash crsh mouse #1
    circletail point mutation #1
    risk factors sumoylation #1
    pcp pathway circletail #1
    severe ntd #1
    tbx22 #1
    syndromic craniosynostosis craniosynostosis #1
    craniosynostosis mouse models #1
    nonchimeric #1
    human ntds alterations #1
    genetics cleft lip #1
    new players aetiology #1
    orofacial clefts conjunction #1
    pcr mononuclear molecular #1
    ankyloglossia aim #1
    sumoylation disease humans #1
    regulating sumo #1
    fgfr2cβact #1
    phenotype basic concepts #1
    mouse ankyloglossia #1
    involvement craniofacial development #1
    autosomaldominant ankyloglossia #1
    regulated sumo modification #1
    genotype phenotypethe role #1
    factor tbx22 #1
    analysis ankyloglossia #1
    palate fgf receptors #1
    fgfr2cβact craniofacial #1
    tbx22 function #1
    c342y fgfr2c #1
    supernumerary tooth region #1

    Key People For Cleft Palate

    Top KOLs in the world
    Jeffrey Clark Murray
    cleft lip birth weight human pair
    Mary Louise Marazita
    cleft lip dental caries oral health
    Terri H Beaty
    cleft palate familial aggregation prostate cancer
    Andrew Carl Lidral
    cleft lip candidate genes wolfram syndrome
    Peter Anthony Mossey
    cleft lip saudi arabia oral health
    Kaare Christensen
    dizygotic twins cleft lip cognitive function

    Philip M Stanier:Expert Impact

    Concepts for whichPhilip M Stanierhas direct influence:Cleft palate,  Imprinted genes,  Neural tube,  Neural tube defects,  Cystic fibrosis,  Dna methylation,  Spina bifida,  Birth weight.

    Philip M Stanier:KOL impact

    Concepts related to the work of other authors for whichfor which Philip M Stanier has influence:Cystic fibrosis,  Imprinted genes,  Neural tube,  Cleft palate,  Dna methylation,  Genomic imprinting,  Gene expression.



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    Genetics & Genomic Medicine Research Department, UCL Great Ormond Street Institute of Child Health, London, UK | Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK | Genetics and Genomic Medicine, UCL GOS Institute of Child