11 citations
,
May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
6 citations
,
April 2021 in “NAR Genomics and Bioinformatics” This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.
226 citations
,
January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
12 citations
,
February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
47 citations
,
September 2002 in “Journal of Bone and Mineral Research” This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.
This study purified trichohyalin protein from pig tongue epithelium, characterizing its unique properties and structure, which may facilitate future functional research.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
83 citations
,
May 2011 in “European Journal of Dermatology” This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
2 citations
,
July 2021 in “UNC Libraries” This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.
1 citations
,
January 2022 in “European Journal of Pharmacology” In this study, FMN was found to inhibit androgen receptor function and androgen-regulated gene expression in prostate cancer cells, suggesting potential as an antiandrogen therapy.
72 citations
,
May 1993 in “The Journal of Cell Biology” This study detailed the structure and amino acid composition of sheep trichohyalin, noting its presence in various tissues and suggesting a possible functional role beyond structural support in hair follicles.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
66 citations
,
April 1995 in “The journal of cell biology/The Journal of cell biology” In this study, researchers reported that a keratinocyte growth factor-Ig fusion protein could specifically detect and localize KGFRs in epithelial tissues, suggesting a method for histochemical detection of growth factor receptors.
44 citations
,
May 2008 in “Plant journal” This study found that D'orenone blocks root hair growth by increasing PIN2 protein abundance, leading to reduced auxin concentration, but external auxin can reverse these effects.
11 citations
,
April 2022 in “Biophysical Journal” In this study, certain cysteine residues in Romney sheep wool fibers were labeled more often during stretching tests, particularly under wet conditions, suggesting variability in their disulfide bond contributions to fiber mechanics depending on hydration.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
5 citations
,
February 1998 in “Polymer” Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
4 citations
,
January 2015 in “Sen'i Gakkaishi” This study proposed a network model for the cross-linked structure of keratin-associated proteins in hair and wool fibers, suggesting notable differences between the two, potentially affecting hair fiber elasticity.
April 2024 in “Journal of pharmacy & pharmacognosy research” This study used in silico analysis to identify 4-[2-(4-nitrophenyl)ethylcarbamoyl]benzenesulfonyl as a potential inhibitor of the EGFR mutant associated with NSCLC, highlighting the need for further in vitro and in vivo validation.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
1 citations
,
January 2013 in “PubMed” In this study, treating hair with thioglycolic acid was found to alter disulfide bond patterns in keratin-associated proteins, shifting them from an ellipsoidal to a near-spherical shape.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
25 citations
,
October 2000 in “Gene” This study found that Foxn1-like genes in fish and mice are functionally equivalent in activating hair keratin genes, whereas changes in the cephalochordate Foxn1-like gene result in inactivity.
5 citations
,
February 2007 in “Cytology and genetics” This review summarizes advances in understanding the genetic regulation of keratin synthesis in hair follicles and reports no new experimental results.
1 citations
,
January 1970 This review discusses the structure, expression, regulation, and potential functions of the nuclear receptor coactivator NcoA4 in cancerous and non-cancerous pathologies, but reports no new results.
1 citations
,
July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.