Disease causing homozygous variants in the human hairless gene

2015 ◽  
Vol 55 (9) ◽  
pp. 977-981 ◽  
Author(s):  
Sabba Mehmood ◽  
Abid Jan ◽  
Syed Irfan Raza ◽  
Farooq Ahmad ◽  
Muhammad Younus ◽  
...  
Keyword(s):  
Hairless Gene

The "Hairless" Gene in Mouse and Man

1999 ◽  
Vol 135 (6) ◽  
pp. 718-720 ◽  
Author(s):  
J. P. Sundberg
Keyword(s):  
Hairless Gene

Gene angora as a modifier of the hairless gene in mouse

2007 ◽  
Vol 43 (2) ◽  
pp. 190-195 ◽  
Author(s):  
B. V. Konyukhov ◽  
M. Yu. Martynova ◽  
A. P. Nesterova
Keyword(s):  
Hairless Gene

scholarly journals Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia

2001 ◽  
Vol 69 (1) ◽  
pp. 235-237 ◽  
Author(s):  
Axel M. Hillmer ◽  
Roland Kruse ◽  
Regina C. Betz ◽  
Johannes Schumacher ◽  
Uwe Heyn ◽  
...  
Keyword(s):  
Androgenetic Alopecia ◽  
Hairless Gene ◽  
Papular Atrichia

scholarly journals Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hrrh-R) in the Hairless Gene (Hr)

2010 ◽  
Vol 47 (1) ◽  
pp. 167-176 ◽  
Author(s):  
Y. Liu ◽  
J. P. Sundberg ◽  
S. Das ◽  
D. Carpenter ◽  
K. T. Cain ◽  
...  
Keyword(s):  
Hair Loss ◽  
Nonsense Mutation ◽  
Molecular Basis ◽  
Hairless Gene

Hairless is translocated to the nucleus via a novel bipartite nuclear localization signal and is associated with the nuclear matrix

2001 ◽  
Vol 114 (2) ◽  
pp. 367-376
Author(s):  
K. Djabali ◽  
V.M. Aita ◽  
A.M. Christiano
Keyword(s):  
Amino Acid ◽  
Hair Follicle ◽  
Nuclear Localization ◽  
Nuclear Matrix ◽  
Nuclear Localization Signal ◽  
Amino Acid Residues ◽  
Bipartite Nuclear Localization Signal ◽  
Hairless Gene ◽  
Fractionation Analysis ◽  
Localization Signal

Hair follicle cycling is an exquisitely regulated and dynamic process consisting of phases of growth, regression and quiescence. The transitions between the phases are governed by a growing number of regulatory proteins, including transcription factors. The hairless (hr) gene encodes a putative transcription factor that is highly expressed in the skin, where it appears to be an essential regulator during the regression of the catagen hair follicle. In hairless mice, as well as humans with congenital atrichia, the absence of hr gene function initiates a premature and abnormal catagen due to a dysregulation of apoptosis and cell adhesion, and defects in the signaling required for hair follicle remodeling. Here, we report structure-function studies of the hairless gene product, in which we identify a novel bipartite nuclear localization signal (NLS) of the form KRA(X13) PKR. Deletion analysis of the mouse hr gene mapped the NLS to amino acid residues 409–427. Indirect immunofluorescence microscopy of cells transiently transfected with hairless-green fluorescent fusion proteins demonstrated that these amino acid residues are necessary and sufficient for nuclear localization. Furthermore, nuclear fractionation analysis revealed that the hr protein is associated with components of the nuclear matrix.

scholarly journals Locus of Dominant Hairless Gene(Ht) Causing Abnormal Hair and Keratinization Maps to Rat Chromosome 10.

2000 ◽  
Vol 49 (2) ◽  
pp. 137-140 ◽  
Author(s):  
Toshio AKIMOTO ◽  
Hiroetsu SUZUKI ◽  
Kazumasa NAKAMA ◽  
Katsushi SUZUKI
Keyword(s):  
Chromosome 10 ◽  
Hairless Gene

scholarly journals Atrichia with Papular Lesions Resulting from a Nonsense Mutation Within the Human Hairless Gene

1999 ◽  
Vol 113 (4) ◽  
pp. 687-690 ◽  
Author(s):  
Eli Sprecher ◽  
Gilles G. Lestringant ◽  
Raymonde Szargel ◽  
Reuven Bergman ◽  
Valentina Labay ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Hairless Gene

scholarly journals Identification of a Genetic Defect in the Hairless Gene in Atrichia with Papular Lesions: Evidence for Phenotypic Heterogeneity among Inherited Atrichias

1999 ◽  
Vol 64 (5) ◽  
pp. 1323-1329 ◽  
Author(s):  
Eli Sprecher ◽  
Reuven Bergman ◽  
Raymonde Szargel ◽  
Rachel Friedman-Birnbaum ◽  
Nadine Cohen
Keyword(s):  
Genetic Defect ◽  
Phenotypic Heterogeneity ◽  
Hairless Gene

Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene

2007 ◽  
Vol 24 (5) ◽  
pp. E79-E82 ◽  
Author(s):  
Eleni Michailidis ◽  
Amy Theos ◽  
Abraham Zlotogorski ◽  
Amalia Martinez-Mir ◽  
Angela M. Christiano
Keyword(s):  
Compound Heterozygous ◽  
Hairless Gene ◽  
Compound Heterozygous Mutations
Sign in / Sign up

Export Citation Format

Share Document