October 2021 in “QJM: An International Journal of Medicine” This study suggests that altered levels of NRF2 may be important in the development of androgenetic alopecia in men.
309 citations
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June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
71 citations
,
February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
November 2022 in “Orphanet Journal of Rare Diseases” This review discusses treatment options for hereditary angioedema and reports no new results; it highlights concerns about androgen side effects and mentions approved alternatives with fewer serious adverse effects.
7 citations
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June 2022 in “Frontiers in Veterinary Science” In this study, researchers identified ten key genes involved in the periodic development of hair follicles in cashmere goats, highlighting the importance of the Wnt signaling pathway and cell cycle in this process.
This study found that the succinate receptor, GPR91, plays a crucial role in the progression of androgenetic alopecia by affecting the immune system and hair follicle biology, and targeting it may offer new therapeutic strategies.
430 citations
,
July 2002 in “Journal of Endocrinology” This hypothesis paper suggests that PCOS may result from genetically determined ovarian hypersecretion of androgens, influencing hormone regulation and insulin resistance, with obesity further affecting its severity; no new clinical results are reported.
103 citations
,
March 2011 in “PLoS Biology” This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
10 citations
,
October 2017 in “Dermatologic clinics” This article highlights the need for dermatologists to understand male-specific anatomical and physiological differences to optimize aesthetic treatment outcomes for men, but it reports no new clinical results.
7 citations
,
October 2023 in “BMC Genomics” In this study, researchers used transcriptome sequencing to identify various noncoding RNAs in the skin tissues of Jiangnan cashmere goats and found that certain long noncoding RNAs may play a role in regulating cashmere fiber fineness, offering new insights for breeding programs.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
January 2026 in “Communications Biology” This study constructed a single-cell atlas of hair follicle cells from yaks and taurine cattle, revealing that differences in WNT signaling within dermal papilla cells may be key to the yak's adaptation to cold environments on the Qinghai-Tibet Plateau.
June 2025 in “International Journal of Molecular Sciences” This review compiles current research on the role of long non-coding RNAs in regulating muscle growth and regeneration processes, particularly their influence on Duchenne muscular dystrophy, and reports no new clinical results.
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.
January 2012 in “Journal of Investigative Dermatology” The document presented various studies on hair and cutaneous development, revealing insights into hair biology and potential therapeutic targets for hair-related conditions. Key findings included the role of stem cells and their niches in hair regeneration, the impact of TACE/ADAM17 depletion on alopecia, and the expression of somatostatin in hair follicles. Research on genetic factors, such as CYLD mutants and P-cadherin, highlighted their importance in hair growth and pigmentation. Studies on hair aging identified genes involved in hair loss in women over 40. Additionally, the potential of keratinocyte precursors from iPS cells for hair follicle regeneration and the effectiveness of a parathyroid hormone analog in reversing chemotherapy-induced alopecia were explored. The document also discussed the role of cholesterol biosynthesis in cicatricial alopecia, the necessity of Wnt signaling for hair follicle initiation, and the effects of ATP-sensitive potassium channel blockers on hair growth. These findings collectively advanced the understanding of hair growth, alopecia treatment, and skin regeneration.
215 citations
,
September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
212 citations
,
May 2012 in “Genes & Development” This study identified a set of wound-induced genes in planarians that play a role in regeneration initiation, with some genes specifically activating within regenerative cells called neoblasts.
179 citations
,
November 2022 in “Frontiers in Plant Science” This review summarizes the roles of WRKY transcription factors in plant growth and their responses to various environmental stresses, but reports no new experimental findings.
101 citations
,
August 2010 in “PLoS ONE” In this mouse study, severe selenoprotein deficiency in epidermal cells was linked to skin abnormalities, disrupted hair follicle development, and progressive alopecia, highlighting the role of selenoproteins in skin and hair health.
49 citations
,
September 2016 in “Genes Brain & Behavior” In this study, a deficiency in the zinc finger protein Zfp462 in mice led to anxiety-like behaviors and excessive self-grooming, providing a new model for studying anxiety disorders.
47 citations
,
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.
40 citations
,
April 2014 in “Genes & Development” The researchers reported that in mice, prolactin signaling in the skin epithelium inhibits hair follicle stem cell activation, promoting quiescence during periods of high serum prolactin like pregnancy and lactation.
37 citations
,
June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
27 citations
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November 2021 in “Scientific Reports” This study used bioinformatics to explore molecular differences in testicular and ovarian responses to SARS-CoV-2, identifying genes that could be associated with sex differences in infection outcomes.
19 citations
,
July 2012 in “Biotechnic & Histochemistry” This study observed that decreased nucleolar organizing region protein synthesis in hair root cells is correlated with hair loss in humans.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
9 citations
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December 2023 in “BMC Genomics” This study examined noninvasive tissue samples, including buccal swabs, hair follicles, saliva, and urine cell pellets, and found hair follicles and urine cell pellets promising for transcriptomic and clinical analyses due to their sample quality and performance in disease-relevant applications.