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Anonychia

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Celia Moss – One of the best experts on this subject based on the ideXlab platform.

  • The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited Anonychia
    Nature Genetics, 2006
    Co-Authors: Diana C. Blaydon, Yoshiyuki Ishii, Harriet C Unsworth, Muyteck Teh, Franz Ruschendorf, Claire Sinclair, Nicholas Tidman, Edel A O'toole, Väinö K Hopsu-havu, Celia Moss

    Abstract:

    Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 ( RSPO4 ), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis. NOTE: In the version of this article initially published, the national origin of the three consanguineous families (P2–P4) was incorrectly described as Indian. The national origin of all three families (P2–P4) is Pakistani. This error has been corrected in the HTML and PDF versions of the article.

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  • the gene encoding r spondin 4 rspo4 a secreted protein implicated in wnt signaling is mutated in inherited Anonychia
    Nature Genetics, 2006
    Co-Authors: Diana C. Blaydon, Yoshiyuki Ishii, E A Otoole, Harriet C Unsworth, Muyteck Teh, Franz Ruschendorf, Claire Sinclair, Vaino K Hopsuhavu, Nicholas Tidman, Celia Moss

    Abstract:

    Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis.

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Diana C. Blaydon – One of the best experts on this subject based on the ideXlab platform.

  • Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia
    Journal of Investigative Dermatology, 2008
    Co-Authors: Yoshiyuki Ishii, Muhammad Wajid, Hisham Bazzi, Katherine A. Fantauzzo, Alison G. Barber, Diana C. Blaydon, Ju-suk Nam, Jeong Kyo Yoon, David P. Kelsell, Angela M. Christiano

    Abstract:

    Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited Anonychia/hyponychia. Here, we studied five consanguineous Pakistani families with recessive inheritance of a combination of Anonychia and hyponychia. Homozygous mutations were identified in the RSPO4 gene in all five families. Three families had a splice site mutation at the exon 2-intron 2 boundary. One family had a 26 bp deletion encompassing the start codon, and the final family had a missense mutation changing the initiating methionine to isoleucine. We demonstrated by in situ hybridization that Rspo4 is exclusively expressed in the mesenchyme underlying the digit tip epithelium in the mouse at embryonic day 14.5 (e14.5). These findings expand our understanding of the role of RSPO4 in nail development and disease.

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  • R-Spondins in Cutaneous Biology: Nails and Cancer
    Cell Cycle, 2007
    Co-Authors: Diana C. Blaydon, Michael P. Philpott, David P. Kelsell

    Abstract:

    The R-spondins are a relatively recently identified family of secreted proteins linked to the Wnt signaling pathway. Recently, human phenotypes have been associated with mutations in two human R-spondins. Germline RSPO4 and RSPO1 mutations result in recessive Anonychia (absence of all fingernails and toenails) and a recessive syndrome with XX-male sex reversal, PPK and a predisposition to SCC, respectively. This review discusses the key roles R-spondins play in embryogenesis, adult tissue maintenance and skin carcinogenesis.

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  • The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited Anonychia
    Nature Genetics, 2006
    Co-Authors: Diana C. Blaydon, Yoshiyuki Ishii, Harriet C Unsworth, Muyteck Teh, Franz Ruschendorf, Claire Sinclair, Nicholas Tidman, Edel A O'toole, Väinö K Hopsu-havu, Celia Moss

    Abstract:

    Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 ( RSPO4 ), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis. NOTE: In the version of this article initially published, the national origin of the three consanguineous families (P2–P4) was incorrectly described as Indian. The national origin of all three families (P2–P4) is Pakistani. This error has been corrected in the HTML and PDF versions of the article.

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Pardeep Kaurah – One of the best experts on this subject based on the ideXlab platform.

  • Total Anonychia congenita and microcephaly with normal intelligence : A new autosomal-recessive syndrome ?
    American Journal of Medical Genetics, 1996
    Co-Authors: Ahmad S. Teebi, Pardeep Kaurah

    Abstract:

    We report on 3 sibs (2 boys and a girl) with a previously apparently unrecognized combination of Anonychia congenita and microcephaly with normal intelligence. The shape of the head is normal. Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. These children and their first-cousin Iranian parents have widely spaced teeth. The children’s first cousin also has total Anonychia congenita and apparently small head. We review Anonychia congenita, and conclude that the presently reported family with a “new autosomal-recessive disorder” provides further evidence of the heterogeneity of this condition. © 1996 Wiley-Liss, Inc.

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  • total Anonychia congenita and microcephaly with normal intelligence a new autosomal recessive syndrome
    American Journal of Medical Genetics, 1996
    Co-Authors: Ahmad S. Teebi, Pardeep Kaurah

    Abstract:

    We report on 3 sibs (2 boys and a girl) with a previously apparently unrecognized combination of Anonychia congenita and microcephaly with normal intelligence. The shape of the head is normal. Other anomalies include clinodactyly of the fifth fingers and bilateral single transverse palmar creases. Skeletal survey was normal in the 2 older children. These children and their first-cousin Iranian parents have widely spaced teeth. The children’s first cousin also has total Anonychia congenita and apparently small head. We review Anonychia congenita, and conclude that the presently reported family with a “new autosomal-recessive disorder” provides further evidence of the heterogeneity of this condition. © 1996 Wiley-Liss, Inc.

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