Tyrosinase-related protein 1 (TYRP1) is one of three tyrosinase-like glycoenzymes in human melanocytes that are key to the production of melanin, the compound responsible for the pigmentation of skin, eye, and hair. Difficulties with producing these enzymes in pure form have hampered the understanding of their activity and the effect of mutations that cause albinism and pigmentation disorders. ...

Abstract Background Remarkable is the mind‐skin connection, that lies in profound impact mental health can have on skin and specific diseases health. This intricate relationship gives rise to a burgeoning field of study known as psychodermatology, which rapidly evolving explores between dermatological conditions psychological factors. Aims In this article we summarize some these diseases, vitil...

We report the isolation of the mouse homolog of OA1, the gene responsible for ocular albinism type 1. The mouse Oa1 gene encodes a putative protein of 405 amino acids displaying a high level of homology (78% identity, 87% similarity) to the human gene. All disease-associated missense mutations reported in patients with ocular albinism involve conserved amino acid residues in the mouse protein. ...

Among a range of inherited skin disorders, some of markedly severe phenotypes have been widely considered as indications for prenatal diagnoses. Recent studies have achieved significant progress in understanding the molecular basis of these heritable skin discases. These include epidermolysis bullosa (EB). a group ef mechanobullous genodermatoses, ichthyosis, a heterogeneous condition of gcnera...

Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain and a general underdevelopment of central retina. Oculocutaneous albinism type I, a common form of albinism, is caused by mutations in the tyrosinase gene. In mice, the albino phenotype can be cor...

INTRODUCTION ................................................................. 325 Established cases of linkage in mice and rats.. ................................ 326 Previous investigations ............................................... 326 Present kvestigation ......................................................... 328 Linkage of pink-eye and albinism in mice.. ..............................

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrat...

The effects of c and rd on jump-out and one-way avoidance learning were examined using both inbred strains and test crosses. Neither gene was found to retard either escape or avoidance performance in the jump-out task, although rd led to less accurate jumping. One-way performance, which required running through a small hole in a wall, was greatly disrupted in mice homozygous for rd; both escape...

BACKGROUND Basal cell carcinoma is one of the more common cancers worldwide; 2.8 million are diagnosed annually in the USA.  However, the rate at which it metastasizes is considered very low, between 0.0028 and 0.5%.  For those rare cases in which metastases occur, approximately one third metastasize to the lung.  CASE Presented is a 62-year-old Caucasian male with oculocutaneous albinism and...