74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
February 2024 in “Epigenomes” This review discusses recent insights into the dynamics and regulation of the epidermal differentiation complex during keratinocyte differentiation and reports no new experimental results.
68 citations
,
April 2014 in “Journal of Investigative Dermatology” This study identified a new S100 fused-type protein, scaffoldin, in reptiles and birds and suggests that SFTP-positive epithelia serve as scaffolds for the growth of various skin appendages, indicating a common evolutionary origin.
29 citations
,
June 2015 in “Kidney International” This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.
January 2025 in “International Journal of Molecular Sciences” This narrative review explored the complex interconnections between psoriasis and other dermatological conditions like vitiligo, alopecia areata, and atopic dermatitis, highlighting shared immune dysfunctions that complicate diagnosis and treatment, with implications for research and holistic patient care.
125 citations
,
February 1971 in “Biochemistry” Specific cross-linkages help make hair proteins stable and strong.
20 citations
,
November 2014 in “Developmental Dynamics” This review explores the similarities between wound healing, palatogenesis, and orofacial clefting, suggesting these processes share common pathways and genetic regulatory mechanisms, but reports no new experimental results.
37 citations
,
November 2017 in “Medical Sciences” This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.
46 citations
,
May 2003 in “Mechanisms of Development” This study found that overexpression of the calcium sensing receptor in transgenic mice accelerates epidermal differentiation and hair growth, suggesting its role in enhancing calcium signaling and interaction with other pathways.
9 citations
,
August 2021 in “International journal of molecular sciences” This study found that loss of epidermal PPARγ in mice altered the expression of many genes related to skin inflammation, keratinization, and sebaceous gland function, indicating its key role in maintaining skin homeostasis.
February 2025 in “Animals” In this review, researchers examined the molecular diversity and expression patterns of major skin appendage proteins, like keratins and EDC proteins, in tetrapods, highlighting recent findings in reptiles and birds and identifying knowledge gaps for future research.
March 2026 in “Frontiers in Cell and Developmental Biology” This review reports that transcriptional and epigenetic mechanisms in epithelial stem cells guide their fate in the epidermis and hair follicles, crucial for skin homeostasis, but disruptions can lead to disease.
June 2020 in “Journal of Investigative Dermatology” This symposium reviewed advances in understanding complex skin diseases through genetics and genomics, emphasizing the role of regulatory signals and environmental components in disease development, but reports no new clinical findings.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
19 citations
,
November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
62 citations
,
April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
51 citations
,
January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.
36 citations
,
October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
62 citations
,
March 2008 in “American Journal of Human Genetics” This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
2 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study strongly suggests that a distinct form of hereditary localized alopecia in a Chinese family is linked to a novel locus on chromosome 2p25.1–2p23.2.
111 citations
,
October 2008 in “Nature Genetics” In their study, Tim Spector and colleagues identified a new genetic association at chromosome 20p11.22 with male-pattern baldness, confirmed by the increased risk when combined with a known androgen receptor gene variant.
14 citations
,
April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
October 2023 in “Cell & bioscience” This study identified a primitive coarse wool characteristic in Merino sheep that enhances environmental adaptability and fine wool yield without reducing quality, suggesting that epigenetic mechanisms, particularly involving the imprinted Gtl2-miRNAs locus, regulate this advantageous trait.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” This study reports a strong association between the MICA locus, specifically the MICA∗3-DR∗6-DQ6 haplotype, and Alopecia Areata in families.
This study on Antirrhinum trichomes found that stickiness in A. hispanicum is due to a recessive allele and mapped it to a specific region on Chromosome 1, while baldness in A. siculum likely involves a novel hairy allele.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
This review discusses treatments for androgenic alopecia, noting that current options like finasteride and minoxidil are effective for only 10% of patients, thus highlighting the need for new therapies.