References: Hair growth and hair loss
Genes Dev. 2002 Jun 1;16(11):1412-22.
Keratin 17 null mice exhibit age- and strain-dependent alopecia.
McGowan KM, Tong X, Colucci-Guyon E, Langa F, Babinet C, Coulombe PA.
Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Onset of type I keratin 17 (K17) synthesis marks the adoption of an appendageal fate within embryonic ectoderm, and its expression persists in specific cell types within mature hair, glands, and nail. We report that K17 null mice develop severe alopecia during the first week postbirth, correlating with hair fragility, alterations in follicular histology, and apoptosis in matrix cells. These alterations are incompletely penetrant and normalize starting with the first postnatal cycle. Absence of a hair phenotype correlates with a genetic strain-dependent compensation by related keratins, including K16. These findings reveal a crucial role for K17 in the structural integrity of the first hair produced and the survival of hair-producing cells. Given that identical inherited mutations in this gene can cause either pachyonychia congenita or steatocystoma multiplex, the features of this mouse model suggest that this clinical heterogeneity arises from a cell type-specific, genetically determined compensation by related keratins.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12050118&dopt=Abstract
ktl.fi
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, OMIM 240300) is a rare autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21q22.3. This monogenic disease provides an interesting model for studies of other common and more complex autoimmune diseases. The most common components of APECED are chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, but several other endocrine deficiencies and ectodermal dystrophies also occur and the phenotype varies widely. The AIRE genotype also varies; 42 different mutations have been reported so far. To understand the complexity of the phenotype, we studied the AIRE and human leukocyte antigen (HLA) class II genotypes in a series of patients with APECED. The only association between the phenotype and the AIRE genotype was the higher prevalence of candidiasis in the patients with the most common mutation, R257X, than in those with other mutations. Addison's disease was associated with HLA-DRB1*03 (P = 0.021), alopecia with HLA-DRB1*04- DQB1*0302 (P < 0.001), whereas type 1 diabetes correlated negatively with HLA-DRB1*15-DQB1*0602 (P = 0.036). The same HLA associations have previously been established for non-APECED patients. We conclude that mutation of AIRE per se has little influence on the APECED phenotype, whereas, in contrast to earlier reports, HLA class II is a significant determinant.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12050215&dopt=Abstract
J Fr Ophtalmol. 1998 Dec;21(10):746-54.
[Vogt-Koyanagi-Harada syndrome. Epidemiological, clinical and disease progression aspects. Twenty cases]
[Article in French]
Boutimzine N, Laghmari A, Ouazzani I, Ibrahimy W, Mohcine Z.
Service d'Ophtalmologie A, Hopital des Specialites, Rabat, Maroc.
PURPOSE: We retrospectively compared outcome in 20 patients with Vogt-Koyanagi-harada syndrome with results reported in the literature. PATIENTS AND METHODS: The charts of 20 patients attending the ophthalmology A unit of a specialized hospital in Rabat over a 7-year period between 1990 and 1997 were retrospectively reviewed. RESULTS: There were 15 women (75%). Mean age was 30 years (18-40 years). The prodromal stage was characterized by headache (100%), meningism (25%) and psychiatric changes (10%). In 100% of cases, both eyes were involved with visual acuity less than 1/10 in 65% and serious retinal detachment in 95%. Integumentary signs occurred in 9 patients (45%), with alopecia (40%), poliosis (40%) and vitiligo (20%). Lumbar puncture showed cerebrospinal fluid pleocytosis in 16 patients (80%) and audiometry revealed sensory neural hearing loss in 11 cases (55%). HLA typing, performed in only 5 patients, showed HLA DR4 in 100%. All of our patients were treated with systemic steroids and two of them had received immunosuppressive therapy. Long-term complications were cataract (25%) and intra-ocular pressure elevation (30%). After a mean follow-up of 6 years, 87.5% of our patients have visual acuity of 5/10 or better. CONCLUSION: Vogt-Koyanagi-Harada syndrome is common in Morocco, and visual prognosis is fair in most of the cases. It appears that cases in Morocco are more similar to those in the Asiatic population than in the American population.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10052048&dopt=Abstract
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