Nature genetics, 2003-06, Vol.34 (2), p.151-153
2003
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- Autor(en) / Beteiligte
- Titel
- Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
- Ist Teil von
- Nature genetics, 2003-06, Vol.34 (2), p.151-153
- Ort / Verlag
- London: Nature Publishing Group
- Erscheinungsjahr
- 2003
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/ng1163Titel-ID: cdi_proquest_miscellaneous_73332467
- Format
- –
- Schlagworte
- Alopecia, Baldness, Base Sequence, Biological and medical sciences, Child, Chromosomes, Human, Pair 6 - genetics, Codon, Nonsense, Complications and side effects, Diagnosis, DNA - genetics, Fundamental and applied biological sciences. Psychology, Gene mutations, Genetic aspects, Genetic Linkage, Glycoproteins - chemistry, Glycoproteins - deficiency, Glycoproteins - genetics, Hair Follicle - metabolism, Humans, Hypotrichosis - genetics, Hypotrichosis - metabolism, Hypotrichosis - pathology, Immunohistochemistry, Male, Molecular and cellular biology, Molecular Sequence Data, Risk factors, Scalp - metabolism, Scalp - pathology