1 citations
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May 2004 in “Biochemical and Biophysical Research Communications” This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that typical skin lesions in Carney complex may originate from the pro-melanogenic activity of a specific dermal fibroblast population influenced by PKA signaling.
17 citations
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April 1997 in “American Journal of Dermatopathology” This report provides the first microscopic description of pachyonychia congenita-associated alopecia, identifying a combination of histological features that might be unique to this condition.
226 citations
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January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
16 citations
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November 2005 in “Journal of Clinical Pathology” This study found that CD1d is strongly expressed in human scalp skin and hair follicles, particularly in the anagen phase, suggesting a role in scalp immunology and potential implications for hair disorder treatment.
53 citations
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September 2013 in “Journal of Investigative Dermatology” This study suggests that cultured hair follicle dermal sheath cup cells exhibit immune privilege properties, partly through the expression of PD-L1, which impacts co-cultured immune cells' behavior.
47 citations
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September 2004 in “Journal of Biological Chemistry” This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that YAP1 localization and expression patterns in human skin xenografts resembled pathological conditions, suggesting that YAP1 may be a potential target for treating skin pathologies.
89 citations
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May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
May 2024 in “Biochemical pharmacology” This study found that targeting CISD1 with the compound NL-1 reduced mitochondrial dysfunction and reactive oxygen species accumulation, protecting against cisplatin-induced hearing loss in cell models and mice, without affecting cisplatin's cancer-fighting effectiveness.
10 citations
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December 2021 in “Frontiers in cell and developmental biology” This study found that GPC1 is a crucial regulator of angiogenesis in human dermal microvascular endothelial cells, indicating its potential as a target for treating alopecia.
53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
28 citations
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September 1998 in “Journal of Investigative Dermatology” This study isolated and characterized two distinct types of caspase-like proteases from human epidermis, suggesting their involvement in keratinocyte differentiation and apoptosis processes.
June 2025 in “International Journal of Nephrology and Renovascular Disease” This study suggests that PLA2R1 overexpression in PMN affects the podocyte cycle and may involve an additional immune response, which could provide new directions for PMN treatment development.
May 2026 in “Frontiers in Medicine” This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.
March 2023 in “Scientific reports” This study presents evidence that hair matrix progenitors and the enzyme Stearoyl CoA Desaturase 1 may play a role in maintaining the dermal papilla niche via autocrine Wnt and paracrine Hedgehog signaling in mice.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.
46 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
28 citations
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December 2018 in “Plant, cell & environment/Plant, cell and environment” This study found that the PLC2 gene plays a critical role in auxin-mediated root development in Arabidopsis, influencing root growth and PIN2 distribution.
5 citations
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December 2002 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study suggests that keratinocytes in skin and mucous membranes might be involved in prion disease transmission due to their expression of PrPc, potentially serving as an entry point for prions.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
13 citations
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April 2020 in “Experimental Cell Research” This study found that knockdown of PCAT1 inhibited hair follicle regeneration in nude mice by disrupting the miR-329/Wnt10b axis and Wnt/β-catenin signaling, highlighting PCAT1's role in promoting follicle regrowth.
6 citations
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August 2016 in “Journal of Visualized Experiments” This article describes a method using the CUBIC protocol to clarify and visualize molecular and cellular interactions in mouse skin biopsies at single cell resolution, but does not provide new biological findings.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
9 citations
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February 2001 in “Journal of Dermatological Science” This study found that the expressions of CDK inhibitors p21waf1/cip1 and p27kip1 were higher during the anagen phase compared to telogen, suggesting a role in follicular epithelial cell differentiation.
22 citations
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July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The KDM1 gene helps Venus flytraps close by managing potassium ions.
April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine” This review highlights the role of the APCDD1 gene and associated pathways in hair follicle biology, offering new perspectives on genetic contributors to hair loss and suggesting potential avenues for developing targeted treatments and preventive strategies.