Amalia Martinez-Mir

Learn More
Cell adhesion and communication are interdependent aspects of cell behavior that are critical for morphogenesis and tissue architecture. In the skin, epidermal adhesion is mediated in part by specialized cell-cell junctions known as desmosomes, which are characterized by the presence of desmosomal cadherins, known as desmogleins and desmocollins. We(More)
Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine leiomyoma syndrome (MCL) and MCL associated with renal cell cancer. MCL is inherited in an autosomal dominant pattern, manifesting as skin leiomyoma and uterine fibroids in affected individuals. Fumarate hydratase, a component of the tricarboxylic acid cycle,(More)
Atrichia with papular lesions is a rare form of total alopecia, in which mutations in the hairless gene have been shown to underlie the phenotype. In the literature to date, atrichia with papular lesions has generally been reported to be inherited in an autosomal recessive manner. A few rare cases exist, however, in which parent-to-child transmission of(More)
palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates(More)
Inherited hair loss can follow both Mendelian and complex patterns of inheritance. Alopecia areata is a nonscarring form of hair loss with a prevalence of 0.1%-0.2% in the USA (Safavi, 1992). Its most severe form, alopecia universalis (AU) leads to total hair loss from the whole body. Alopecia areata is inherited as a complex genetic trait in which(More)
1 These authors contributed equally to this work. Epidermolysis bullosa simplex (EBS) is an inherited blistering disease characterized by intraepidermal cleavage (Gedde-Dahl and Anton-Lamprecht, 1990;Fine et al, 1991). A very rare subset of EBS, termed "EBS superficialis" (EBSS), has been described in two families byFine et al (1989). Skin biopsy of these(More)
The dystrophic form of epidermolysis bullosa (DEB) can be inherited in both an autosomal dominant or a recessive fashion (Christiano and Uitto, 1996). The recessive form can range from a very severe condition (Hallopeau-Siemens DEB) to a relatively mild disease, clinically indistinguishable from the dominantly inherited mild form of DEB, (DDEB) (Fine et al,(More)
  • 1