Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

Jelani, Musharraf; Chishti, Muhammad Salman; Ahmad, Wasim

doi:10.1038/jhg.2011.18

Cited by 29 publications

(48 citation statements)

References 8 publications

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“…In the literature, 3 homozygous missense, 1 homozygous nonsense, and 1 compound heterozygous (missense and frameshift) mutations of this gene have been described in 5 families. Clinical and genetic data are summarized in Table 1 [Brancati et al, 2010;Jelani et al, 2011;Fortugno et al, 2014;Raza et al, 2015].…”

Section: Discussionmentioning

confidence: 99%

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

Dardour

Cosyns²,

Devriendt

2017

Mol Syndromol

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Section: Discussionmentioning

confidence: 99%

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

Dardour

Cosyns²,

Devriendt

2017

Mol Syndromol

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“…The identified homozygous mutations abrogate nectinbased cell adhesion and impair afadin binding. Homozygous or compound heterozygous mutations in the PVRL4 gene are causative of ectodermal dysplasiasyndactyly syndrome (EDSS1), an autosomal recessive disorder characterized by cutaneous syndactyly associated to hair and teeth abnormalities (Brancati et al 2010;Jelani et al 2011).…”

Section: Adherens Junctionsmentioning

confidence: 99%

Epidermal cell junctions and their regulation by p63 in health and disease

2015

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As the outermost tissue of the body, the epidermis is the first physical barrier for any pressure, stress or trauma. Several specialized cell-matrix and cell-cell adhesion structures, together with an intracellular network of dedicated intermediate filaments, are required to confer critical resilience to mechanical stress. The transcription factor p63 is a master regulator of gene expression in the epidermis and in other stratified epithelia. It has been extensively demonstrated that p63 positively controls a large number of tissue-specific genes, including those encoding a large fraction of tissue-restricted cell adhesion molecules. Consistent with p63 functions in cell adhesion and in epidermal differentiation, heterozygous mutations clustered mainly in the p63 C-terminus are causative of AEC syndrome, an autosomal dominant disorder characterized by cleft palate, ankyloblepharon and ectodermal dysplasia associated with severe skin erosions, bleeding and infections. The molecular basis of skin erosions in AEC patients is not fully understood, although defects in desmosomes and in other cell junctions are likely to be involved. Here, we provide an extensive review of the different epidermal cell junctions that cooperate to withstand mechanical stress and on the mechanisms by which p63 regulates gene expression of their components in healthy skin and in AEC syndrome. Collectively, advancement in understanding the molecular mechanisms by which epidermal cell junctions precisely exert their functions and how p63 orchestrates their coordinated expression, will ultimately lead to insight into developing future strategies for the treatment of AEC syndrome and more in generally for diseases that share an overlapping phenotype.

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“…These observations may provide a rationale for the use of MV as an oncolytic agent (Mühlebach et al, 2011). In humans, mutations in the PVRL4 gene encoding nectin4 cause ectodermal-dysplasia-syndactyly syndrome (EDSS), in which patients have affected skin and skin appendages, such as hair, teeth, and nails (Brancati et al, 2010; Jelani et al, 2011). …”

Section: Nectin4mentioning

confidence: 99%

Wild-Type Measles Virus is Intrinsically Dual-Tropic

Takeda¹,

Tahara²,

Nagata³

et al. 2012

Front. Microbio.

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Measles is a highly contagious disease that causes temporary and severe immunosuppression in patients. Signaling lymphocyte activation molecule (SLAM) expressed on cells of the immune system functions as a receptor for measles virus (MV). In addition to SLAM, vaccine strains of MV also use a ubiquitously expressed complement regulatory protein, CD46, as a receptor, whereas wild-type (wt) MV strains do not use this receptor. However, recent studies have indicated that SLAM is not the sole receptor for wt MV strains. These strains have an intrinsic ability to enter both immune and epithelial cells using distinct receptor binding sites in their hemagglutinin (H) protein. Recently, a clear answer was obtained through the identification of an epithelial MV receptor, nectin4, expressed at adherens junctions, thereby greatly improving our knowledge of MV receptors. It is now clear that MV specifically targets two cell types, immune cells and epithelial cells, using SLAM and nectin4, respectively. MV loses the ability to use either SLAM or nectin4 when it possesses specific mutations in the H protein. However, nectin4-blind MV still infects SLAM-positive immune cells efficiently (SLAM-tropic), and conversely, SLAM-blind MV infects nectin4-positive epithelial cells efficiently (nectin4-tropic). In this regard, MV is intrinsically dual-tropic to immune cells and epithelial cells. Although many aspects and molecular mechanisms underlying immunosuppressive effects and a highly contagious nature of MV still remain to be elucidated, analyses of physiological functions of these two receptors would provide deep insights into MV pathogenesis.

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Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

Cited by 29 publications

References 8 publications

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

Epidermal cell junctions and their regulation by p63 in health and disease

Wild-Type Measles Virus is Intrinsically Dual-Tropic

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