7 citations
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December 2019 in “Experimental and Therapeutic Medicine” This study examined the effects of WNT10B on dermal papilla cells in vitro, finding that it alters gene expression, decreases protein synthesis, and upregulates a specific signaling pathway, potentially influencing hair follicle morphogenesis.
6 citations
,
October 2020 in “Journal of Cellular and Molecular Medicine” This study identified ten key hub genes and pathways crucial for understanding the molecular mechanism of hair growth by comparing dermal papilla cells in 2D and 3D cultures.
4 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
39 citations
,
July 1997 in “American Journal of Medical Genetics” This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.
12 citations
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June 2021 in “Scientific Reports” This study identified aging-related epigenetic and transcriptomic biomarkers and suggested that curcumin might target and inhibit the JUN gene, implicating potential therapeutic strategies against aging.
11 citations
,
January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
6 citations
,
February 2013 in “Journal of Visualized Experiments” This study introduces a method using lentiviral delivery in mice to expedite analysis of factors crucial for hair follicle morphogenesis by enabling rapid gain- or loss-of-function studies.
1 citations
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April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this case study, a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy caused by an SLC39A4 gene mutation showed clinical improvement and increased zinc levels following zinc supplementation, highlighting the importance of early genetic testing and customized treatment in managing the disorder.
August 2025 in “Journal of Cosmetic Dermatology” In this bibliometric analysis, researchers found an increasing focus on innovative treatments for androgenetic alopecia, such as platelet-rich plasma and stem cell therapy, with the United States and China leading in research contributions between 2003 and 2023.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
Among Super Merino and Small-Tailed Han sheep, this study identified differentially expressed long non-coding RNAs and mRNAs linked to hair follicle growth and fiber traits, suggesting their potential roles in regulating these important wool characteristics through RNA sequencing and gene enrichment analyses.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study generated a transcriptomic map of human hair follicles, identifying compartment-specific gene expression profiles that can aid in developing targeted therapies for hair follicle disorders.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
April 2021 in “Journal of Investigative Dermatology” This study identified a unique transcriptional signature in occipital hair follicles that may protect them from miniaturization in androgenetic alopecia, using an animal-free model to investigate gene roles.
December 2004 in “SUNScholar (Stellenbosch University)” This study suggests that identified polymorphisms may serve as markers for assessing an individual's risk of developing prostate cancer.
January 2004 in “Linchuang pifuke zazhi” This study identified specific genes that are more abundantly expressed in black hair than in gray hair, with black hair displaying higher expression of pigment-related proteins and gray hair showing increased expression of keratin-related genes.
January 2009 in “Egyptian Journal of Medical Human Genetics” This study, conducted among Egyptians, found a borderline significant association between the Stul polymorphism of the androgen receptor gene and androgenetic alopecia in males, with higher androgen receptor expression in balding scalp areas.
40 citations
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January 2016 in “PLoS ONE” The study found that exposing Arbas Cashmere goats to a short photoperiod significantly increased cashmere production by extending the anagen phase of hair follicles, with gene expression changes identified as contributing factors.
September 2023 in “Medicina-lithuania” In this study, DNA analysis of patients with androgenetic alopecia and alopecia areata indicated potential differences in treatment response based on genetic makeup across Romanian and Brazilian populations, notably involving genes like GR-alpha and SULT1A1, which may guide personalized treatment strategies.
112 citations
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September 2021 in “BMC Biology” This study found that specific gene expressions during different stages of hair follicle development in Merino sheep are linked to wool-related traits, and may also be relevant to human skin, metabolic, and immune traits.
10 citations
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March 2022 in “Communications biology” In this study, researchers found that non-invasive analysis of skin surface lipid RNAs revealed alterations in gene expression patterns associated with atopic dermatitis, suggesting its potential for understanding skin disease pathophysiology.
6 citations
,
January 2021 in “Annals of Dermatology” This study found that 650-nm red light treatment promoted hair follicle proliferation and delayed the transition from anagen to catagen in ex vivo hair follicles from androgenetic alopecia patients, with RNA-seq analysis suggesting involvement of biological processes like metabolism and leukocyte migration.
6 citations
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June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
1 citations
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November 2021 in “Drug Testing and Analysis” This collection from the 2021 Manfred Donike Workshop outlines advancements in doping detection, highlighting new test methods and challenges, with a focus on steroidal substances, peptide hormones, and gene doping analysis.
This study investigated the molecular mechanisms behind cashmere goat coat types by analyzing gene expression during hair follicle development stages, identifying regulatory pathways involved in metabolism, immune response, and the quiescent state of follicles, potentially aiding in genetic selection for improved cashmere production.
September 2023 in “Nature Communications” In this study, the researchers found that rare genetic variants make a minor contribution to male-pattern hair loss risk, identifying five significant gene associations, including novel genes, and noting a shared basis with monogenic hair loss disorders.
3 citations
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March 2023 in “Biology” This study identified 2574 differentially expressed genes in the hair follicles of Wan strain Angora rabbits, suggesting that these genes may influence wool fiber diameter and quality.
2 citations
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September 2024 in “Animals” In this study, researchers identified key genes such as EDNRB2, GPNMB, TRPM1, TYR, and DCT that regulate melanin deposition in the breast muscles of black-boned chickens, contributing to their unique pigmentation during embryonic development.
44 citations
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January 1999 in “Advances in pharmacology” This chapter reviews recent findings on androgen receptor function, structure, and interactions, highlighting post-translational modifications and mutations related to prostate cancer, but reports no new experimental results.