17 citations
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February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
July 2026 in “Frontiers in Endocrinology” This study observed that beef cattle with certain prolactin receptor gene mutations, known as slick mutations, demonstrated improved post-weaning growth and temperature regulation in a hot, humid climate compared to other genotypes, suggesting genotype influences growth efficiency and heat tolerance.
23 citations
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June 2012 in “PLOS ONE” This study found that KLF4 expression in mouse hair follicle stem cells is important for effective cutaneous wound healing, with its knockdown leading to reduced stem cell populations and delayed healing.
38 citations
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January 2016 in “Cell Death and Disease” This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.
February 2010 in “Journal of The American Academy of Dermatology” This study found that NB-002 demonstrated clear antifungal activity and clinically significant nail clearing in subjects with distal subungual onychomycosis and ≤50% nail involvement, compared to a vehicle treatment.
1 citations
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November 2024 in “Cutis” PLLA injections can cause hair loss and skin issues.
23 citations
,
February 1993 in “Journal of Investigative Dermatology”
23 citations
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March 1989 in “The Veterinary clinics of North America. Food animal practice” This review discusses dermatological issues in llamas, detailing common findings, parasites, and disorders, but reports no new clinical results; it highlights the need for recognizing normal skin variations and discusses potential treatments like zinc therapy for certain conditions.
8 citations
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September 2016 in “Journal of Investigative Dermatology” In this study, Flii overexpression in mice enhanced fingertip regeneration and nail formation after both distal and proximal amputations, suggesting a role in digit and hair follicle regeneration possibly involving Wnt signaling.
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.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
1 citations
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April 2016 in “Journal of lipid research” This study suggests that lipin-1 plays a crucial role in keratinocyte differentiation by modulating protein kinase C activity through diacylglycerol levels, with implications for skin biology.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” This study found that certain gene polymorphisms in keratin 27 and ELOVL4 are linked to improved cashmere fineness and production traits in Liaoning cashmere goats.
21 citations
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September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
4 citations
,
January 1989
May 2012 in “Research and reports in neonatology” This article presents a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities, but reports no new findings beyond this case description.
3 citations
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March 2023 in “Annals of the New York Academy of Sciences” In this study using mice, simultaneous deficiencies in claudin-1 and claudin-3 were associated with hair loss and altered hair follicle architecture during the telogen phase, suggesting a role in hair retention.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
60 citations
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November 2013 in “Development” This study found that the creation of hair follicle lumens in mice is driven by the outward migration of keratin 79-positive cells, suggesting a novel mechanism for generating hollow cores in hair follicles.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.
9 citations
,
May 2012 in “PLOS ONE” This study found that integrin-linked kinase is crucial for various epidermal functions, including differentiation and barrier formation, and also plays a previously unreported role in melanocyte development and function.
40 citations
,
March 1991 in “Journal of Investigative Dermatology” 49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
8 citations
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August 1987 in “The Journal of Dermatology” This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
22 citations
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December 2013 in “Molecular biology of the cell” This study found that ILK deficiency disrupts hair follicle development by impairing cell polarity and laminin-511 assembly, but these defects can be partially reversed with exogenous laminin-511.
January 2023 in “Indian dermatology online journal” In this case report, an 8-year-old boy's crusted scalp lesions and alopecia initially mimicking kerion were ultimately diagnosed as Pre-B acute lymphocytic leukemia after histopathological evaluation revealed leukemia cutis.
5 citations
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September 2021 in “Journal of Molecular Histology” In this study, the researchers identified LHX2 as a specific marker for hair follicle placodes, differentiating them from eccrine sweat gland placodes through double immunofluorescence staining.
60 citations
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July 2014 in “Autophagy” This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.