65 citations
,
February 1992 in “Development” This study characterizes a type II keratin intermediate filament gene family involved in early sheep follicle differentiation, detailing gene expression patterns and sequences in hair cortical cells.
34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
November 2022 in “Journal of Investigative Dermatology” This study found that stimulating the olfactory receptor OR2A4/7 with cyclohexyl salicylate promoted human hair growth and increased progeny of hair follicle epithelial stem cells in an ex vivo setting.
1 citations
,
January 2019 in “Open Journal of Internal Medicine” This case report describes a 19-year-old patient with systemic lupus and a composite heterozygosis SC with thalassemic component, highlighting the diagnostic challenge when symptoms of both conditions occur simultaneously.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
29 citations
,
February 2007 in “Hormone and metabolic research” This study found that antisense oligonucleotides can significantly reduce androgen receptor expression in cultured human sebocytes and may offer new therapeutic possibilities for androgen-associated skin diseases.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
372 citations
,
December 2004 in “Nature Genetics”
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
10 citations
,
January 1989 in “Archives of Dermatological Research” The method effectively analyzes human hair proteins, especially nonfilamentous ones.
21 citations
,
September 2021 in “New Phytologist” This study found that the transcription factor HB24 plays a critical role in root hair elongation in Arabidopsis thaliana by promoting the conversion of indole-3-butyric acid to indole-3-acetic acid through regulation of IBR1 expression.
7 citations
,
October 1985 in “Genetics Research” This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.
22 citations
,
January 1990 April 2017 in “Plastic & Reconstructive Surgery Global Open” This study suggests that while hyaluronan production by Has2 is not necessary for reepithelization, it plays a crucial role in collagen matrix reorganization during wound healing.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
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.
15 citations
,
December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
4 citations
,
January 2013 in “International Journal of Trichology” This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.
November 2025 in “Figshare” In this study, six metabolic reprogramming-related genes, including SQSTM1, were significantly associated with alopecia areata, with elevated SQSTM1 mRNA and protein levels observed in affected hair follicles compared to healthy controls.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
26 citations
,
May 2013 in “Marine Drugs” This study found that Ishige sinicola extract increased hair growth and cell proliferation in cultured vibrissa follicles and mice, suggesting potential benefits for treating alopecia through β-catenin activation and 5α-reductase inhibition.
December 2025 in “Biomolecules” This study reviews the emerging role of protein S-palmitoylation in dermatology, highlighting its impact on skin functions like inflammation and barrier maintenance, and evaluating its potential as a therapeutic target for skin disorders such as alopecia and psoriasis.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
26 citations
,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that mice lacking sPLA2-IIE had distinct skin abnormalities, particularly affecting hair follicles, highlighting the differing roles of sPLA2 isoforms in mouse skin.
This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
18 citations
,
December 2015 in “PubMed” This study found that intralesional triamcinolone was more effective than topical betamethasone for hair regrowth in patients with localized alopecia areata.
11 citations
,
April 1997 in “International Journal of Dermatology” This article discusses using topical tretinoin with intralesional triamcinolone acetonide for alopecia areata in northern Saudi Arabia, but it reports no new clinical findings.
This study found that a novel pet food formulation significantly improved the management of feline atopic skin syndrome by reducing symptom severity and medication dependence over six months in client-owned cats, compared to a control diet.