1 citations
,
January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
287 citations
,
July 2001 in “Journal of Cell Science” This study mapped 65 intermediate filament genes in the human genome, highlighting that the majority of keratin-related sequences are inactive pseudogenes, notably for keratins 8 and 18.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
65 citations
,
September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
42 citations
,
January 2014 in “BMC Genomics” This study highlights the loss of hair-type keratin genes in cetaceans compared to terrestrial mammals, suggesting a potential adaptive role linked to their hairless phenotype and habitat changes.
41 citations
,
September 2012 in “Cellular and Molecular Life Sciences” This review summarizes the current understanding of microRNAs in skin biology, highlighting their roles in processes like wound-healing and aging, without presenting any new experimental results.
25 citations
,
August 2017 in “Frontiers in Zoology” In this study, the researchers reported extensive gene loss and high pseudogenization rates of α-keratin genes in cetaceans compared to terrestrial mammals, likely linked to hair loss and aquatic adaptations.
December 2024 in “Genome Biology and Evolution” This study found that the Florida worm lizard has lost certain genes associated with claw development, which are present in other lizard species with claws, suggesting a link between the evolution of their limbless body and the loss of claw-related genes.
20 citations
,
January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
92 citations
,
January 2012 in “International Journal of Biological Sciences” This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.
18 citations
,
November 2005 in “European Journal of Cell Biology” Keratin gene clusters in humans and marsupials are similarly organized.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
22 citations
,
April 1998 in “Dermatologic Clinics” This article reviews the therapeutic use of interferons and other cytokines in various viral, tumorous, and inflammatory diseases, discussing their biological effects and potential future applications without presenting new experimental results.
1 citations
,
December 2016 This computational study developed a regulatory model linking key genes and miRNAs to cardiac senescence, validated by connecting 94% of these elements to existing cardiac aging research.
May 2020 in “Research Square (Research Square)” This study used cashmere goats to reveal distinct intermediate states of dermal papilla cells, each with specific roles in hair growth, shedding, and regeneration.
April 2016 in “Journal of Investigative Dermatology” This symposium reviewed various topics in stem cell research related to skin biology, including mechanisms of skin regeneration, tumorigenesis, and pathways influencing melanoma stem cell behavior, but it reported no new clinical results.
49 citations
,
January 2010 in “International Journal of Pediatric Endocrinology” This review covers the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to P450c21, but it reports no new clinical results.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.
1 citations
,
January 2023 in “In vivo/In Vivo” This study suggests that the activation of box A in mesenchymal cell models may enhance stem cell properties, increasing the expression of stemness markers like OCT4, NANOG, and SOX2.
1 citations
,
May 2023 in “Journal of molecular evolution” This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.
1 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.
1 citations
,
September 2021 in “Gynäkologische Endokrinologie” This review explains various types of hair loss and unwanted hair growth in women, emphasizing the complexity of treatment due to their diverse causes, but it reports no new clinical results.
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.