The human hair: from anatomy to physiology

Background: Hair is a unique character of mammals and has several functions, from protection of the skin to sexual and social communication. In literature, there are various studies about hair that take into consideration different aspects within many fields of science, including biology, dermatology, cosmetics, forensic sciences, and medicine. Methods: We carried out a search of studies published in PubMed up to 2013. Results: In this review, we summarized the principal anatomical and physiological aspects of the different types of human hair, and we considered the clinical significance of the different structures and the distribution of the hair in the human body. Conclusion: This review could be the basis for improvement and progression in the field of hair research

The human hair : From anatomy to physiology

Background: Hair is a unique character of mammals and has several functions, from protection of the skin to sexual and social communication. In literature, there are various studies about hair that take into consideration different aspects within many fields of science, including biology, dermatology, cosmetics, forensic sciences, and medicine. Methods: We carried out a search of studies published in PubMed up to 2013. Results: In this review, we summarized the principal anatomical and physiological aspects of the different types of human hair, and we considered the clinical significance of the different structures and the distribution of the hair in the human body. Conclusion: This review could be the basis for improvement and progression in the field of hair research. International Journal of Dermatolog

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

Contains fulltext : 88501.pdf (publisher's version ) (Open Access)Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for other malformation disorders. We performed genome-wide DNA-binding profiling by chromatin immunoprecipitation (ChIP), followed by deep sequencing (ChIP-seq) in primary human keratinocytes, and identified potential target genes and regulatory elements controlled by p63. We show that p63 binds to an enhancer element in the SHFM1 locus on chromosome 7q and that this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development. A unique micro-deletion including this enhancer element, but not the DLX5/DLX6 genes, was identified in a patient with SHFM. Our study strongly indicates disruption of a non-coding cis-regulatory element located more than 250 kb from the DLX5/DLX6 genes as a novel disease mechanism in SHFM1. These data provide a proof-of-concept that the catalogue of p63 binding sites identified in this study may be of relevance to the studies of SHFM and other congenital malformations that resemble the p63-associated phenotypes

Segregation analysis of urothelial cell carcinoma.

Contains fulltext : 49842.pdf (publisher's version ) (Closed access)A family history of urothelial cell carcinoma (UCC) confers an almost two-fold increased risk of developing UCC. It is unknown whether (part of) this aggregation of UCC has a Mendelian background. We performed complex segregation analyses on 1193 families ascertained through a proband with UCC of the bladder, ureter, renal pelvis or urethra, who were newly diagnosed between January 1, 1995 and December 31, 1997 and registered by two population-based cancer registries in the southeastern part of the Netherlands. Data were reported on 10 738 first-degree relatives by postal questionnaire; 101 of these relatives had UCC. All reported occurrences of UCC were verified (if possible) using medical records. Analyses were performed with the S.A.G.E. segregation package. Five restricted models (Mendelian dominant, Mendelian recessive, Mendelian co-dominant, 'no major gene' model and environmental model) were tested against the general unrestricted model. Sex and smoking status were incorporated as covariates. Strong evidence of Mendelian inheritance of UCC through a single major gene was not found in these 1 193 families. However, since none of the Mendelian models could be rejected, an inherited subtype of UCC cannot be excluded. A major gene may segregate in some families but this effect may have been masked in a background of high sporadic incidence. The 'no major gene' (or sporadic) model appeared to be the most parsimonious one to describe the occurrence of UCC in these families