Cargando…
In Silico Analysis of Missense Mutations in LPAR6 Reveals Abnormal Phospholipid Signaling Pathway Leading to Hypotrichosis
Autosomal recessive hypotrichosis is a rare genetic irreversible hair loss disorder characterized by sparse scalp hair, sparse to absent eyebrows and eyelashes, and sparse axillary and body hair. The study, presented here, established genetic linkage in four families showing similar phenotypes to ly...
Autores principales: | Raza, Syed Irfan, Muhammad, Dost, Jan, Abid, Ali, Raja Hussain, Hassan, Mubashir, Ahmad, Wasim, Rashid, Sajid |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132050/ https://www.ncbi.nlm.nih.gov/pubmed/25119526 http://dx.doi.org/10.1371/journal.pone.0104756 |
Ejemplares similares
-
In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
por: Khan, Hamza Ali, et al.
Publicado: (2023) -
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
por: Zhang, Xin, et al.
Publicado: (2012) -
Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
por: Al Hawsawi, Khalid, et al.
Publicado: (2022) -
Bimatoprost in the treatment of eyelash hypotrichosis
por: Law, Simon K
Publicado: (2010) -
Marie-Unna Hereditary Hypotrichosis
por: Srinivas, Sahana M, et al.
Publicado: (2014)