10 citations
,
February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.
18 citations
,
December 2010 in “Transplantation Proceedings” This study reported that black hairy tongue can occur after allogeneic stem cell transplantation and may indicate cutaneous graft-versus-host disease, highlighting the need for histopathologic evaluation.
38 citations
,
January 2014 in “Journal of Dermatological Science” This study found that Krtap11-1 may play an important role in keratin-bundle assembly in the hair cortex, influencing the physical properties of hair.
21 citations
,
January 1995 in “Molecular Biology Reports” This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
13 citations
,
February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
July 2017 in “Cancer Research” This study identified a radio-resistant population of Krt15+ stem cells in the mouse small intestine that can initiate tumors, suggesting potential targets for colon cancer therapy.
24 citations
,
August 2017 in “Prostaglandins & Other Lipid Mediators” This review discusses the potential roles of prostaglandin D2 and its receptor CRTH2 in various diseases beyond allergies and asthma and reports no new clinical results.
March 2025 in “International Journal of Molecular Sciences” This study established a Krt24-CreERT2 mouse line targeting outer bulge hair follicle stem cells, finding these cells crucial for hair follicle development and repair, particularly following ionizing radiation exposure.
101 citations
,
August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
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.
This study found that the novel bacteriophage Halo KS-7 shows strong antibacterial activity against carbapenem-resistant Klebsiella pneumoniae and significantly promotes wound healing in mice, making it a promising biocontrol agent for managing multidrug-resistant infections.
2 citations
,
September 2020 in “Biomedical materials” This study found that recombinant human hair keratin proteins K31 and K81 show greater potential for inducing skin cell differentiation compared to natural keratin coatings.
3 citations
,
January 2022 in “Medical Mycology Journal” This study observed Malassezia hyphae in the keratotic plugs of healthy individuals, which contrasts with previous findings of these hyphae primarily in lesions of pityriasis versicolor patients.
September 2004 in “Hair transplant forum international” This article summarizes a meeting of the American Board of Hair Restoration Surgery's Board of Directors to discuss future plans, but does not report new experimental results.
This study introduces Kalya Research, an AI-driven tool designed to identify and categorize literature on complementary and alternative medicines, showing its effectiveness compared to Medline in finding relevant alopecia research within the context of breast cancer patients.
9 citations
,
October 1947 in “The Lancet” 1 citations
,
November 1947 in “The Lancet” 99 citations
,
March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
80 citations
,
June 2002 in “Molecular Biology of the Cell” This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
3 citations
,
March 2020 in “International Journal of Molecular Sciences” This study found that overexpressing the gene Thymosin β4 (Tβ4) can promote the growth and development of secondary hair follicle dermal papilla cells in cashmere goats, suggesting its potential as a target for increasing cashmere production.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.