51 citations
,
January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
1 citations
,
April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
February 2024 in “Frontiers in plant science” This study found that Plant Elicitor Peptides enhance root hair growth through a mechanism independent of their known receptors, with PROPEP2 playing a key role in this process by influencing gene expression related to root hair formation.
2 citations
,
August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
September 2019 in “Journal of Investigative Dermatology” This study observed that PCE-DP may improve skin pigmentation by increasing epidermal turnover and inhibiting melanin uptake and inflammation in human epidermal keratinocytes.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
August 2015 in “PubMed Central” This study suggests that epithelial-derived Pop-Up Keratinocytes (ePUKs) may be a promising cell source for regenerative medicine due to their specific phenotypic traits and their influence on wound healing.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels.
15 citations
,
April 2011 in “Biological Chemistry” This study found that Cathepsin E plays a crucial role in keratinocyte terminal differentiation, affecting epidermis formation and homeostasis in mice.
14 citations
,
January 2012 in “Proteins” This study's molecular dynamics simulations suggest that electrostatic interactions mainly stabilize peptide binding to human hair keratin, with the protein's dielectric constant significantly affecting free energy calculations.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.
52 citations
,
May 2006 in “Journal of Structural Biology” This study identified two key pentapeptide quasi-repeats in human keratin-associated proteins, which are similar to motifs found in sheep wool.
81 citations
,
February 2019 in “Experimental & Molecular Medicine” This review examines PAK4 signaling pathways in prostate cancer, Parkinson's disease, and melanogenesis, focusing on the potential role of the PAK4-CREB axis, without reporting new clinical results.
March 2026 in “World Rabbit Science” This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
10 citations
,
November 2021 in “International journal of molecular sciences” This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.
1 citations
,
February 2021 in “Animal biotechnology” This study found that specific variants of the KAP6-1 gene in cashmere-producing goats were associated with changes in fiber diameter and length, suggesting potential as genetic markers for fiber improvement.
20 citations
,
May 2007 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.2 gene in Chinese Inner Mongolia cashmere goats are associated with variations in cashmere fibre diameter, suggesting its potential as a molecular marker for this trait.
11 citations
,
July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.
50 citations
,
July 2008 in “British Journal of Dermatology” 25 citations
,
September 2014 in “SpringerPlus” This study found that sheep possess a polymorphic KAP8-2 gene that shares high sequence identity with the KAP8-2 gene in goats and reindeer.