22 citations
,
April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
3 citations
,
April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
June 2026 in “HAL (Le Centre pour la Communication Scientifique Directe)” This article presents the SH-1 molecule as a novel AR antagonist for androgenetic alopecia treatment, highlighting its tissue-specific action and potential for commercialization, but provides no new clinical results.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
266 citations
,
January 2016 in “Development” In this study, researchers found that YAP and TAZ, when localized in the nucleus of basal layer cells, are crucial for skin regeneration and hair growth, with their loss leading to slower cell proliferation, hair loss, and impaired wound healing in mice.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This source describes SH‑1 as a next-generation androgen receptor antagonist designed for localized treatment of androgenetic alopecia, aiming to reverse follicular miniaturization while maintaining endocrine balance. Unlike traditional therapies, SH‑1 offers tissue-specific action, avoiding systemic effects.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.
11 citations
,
June 2019 in “Tissue & Cell” This study indicates that COL17A1 plays a crucial role in the differentiation process of hair-follicle-associated pluripotent stem cells.
April 2018 in “Journal of Investigative Dermatology” This study demonstrated that in genetic mouse models, the calcium sensor Stim1, not Stim2, is essential for sweat secretion in sweat glands.
103 citations
,
March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
15 citations
,
September 2018 in “Frontiers in Plant Science” This study identified that downregulation of the gene BcFLA1 decreases root hair length in Brassica carinata under phosphate-deficient conditions, highlighting its role in root hair elongation.
22 citations
,
March 2019 in “The Journal of Cell Biology” This study identified that the Wave complex proteins ABI1 and Wave2 play a crucial role in regulating epidermal shape and growth during skin development, notably influencing SOX9 expression and Wnt signaling pathways.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
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.
May 2022 in “The journal of immunology/The Journal of immunology” This study developed a foxn1-deficient Xenopus laevis model using CRISPR/Cas9, observing reduced T-cell markers and altered immune responses in tadpoles, providing a nonmammalian model for immunological research.
226 citations
,
January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
This study found that S1PR1 signaling in mouse aortic endothelial cells varied by location and subtype, influencing inflammatory and lymphangiogenic gene expression through distinct molecular pathways.
28 citations
,
January 2015 in “Journal of Cell Science” In this study, PINCH-1 gene loss in mouse epidermis led to detachment from the basement membrane, thickened skin, and hair loss, with findings suggesting PINCH-1 plays a role in keratinocyte adhesion through both ILK and EPLIN pathways.
1 citations
,
October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.
July 2022 in “Journal of Investigative Dermatology” Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
February 2026 in “Biophysical Journal”
This study revealed that IP-PA1, derived from Pantoea agglomerans, promoted hair growth in mice and increased certain growth factor expressions in human cell cultures, suggesting a unique mechanism compared to traditional hair growth treatments.