15 citations
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March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
4 citations
,
February 2024 in “Anais Brasileiros de Dermatologia” 1 citations
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April 1998 in “PubMed” This study suggested that Nexin 1, a powerful serine-protease inhibitor, may have a role in regulating hair follicle growth by influencing cellular growth and differentiation.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
September 2025 in “American Journal of Dermatopathology” In this research, most cases of mammary and extramammary Paget disease were reported to express PRAME, expanding the understanding of its presence in cutaneous epithelial tumors, though its diagnostic utility is limited by overlap with other conditions.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
This study found that the proteins Par3, mInsc, and Gαi3 cooperate to regulate LGN polarization and promote perpendicular cell divisions during murine epidermal morphogenesis.
April 2017 in “Journal of Investigative Dermatology” This study demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.
2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
86 citations
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December 2002 in “Tissue Antigens” In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.
50 citations
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September 2014 in “Stem cell reports” In this study, BLIMP1 was found to function in terminally differentiated epidermal cells to maintain homeostasis, rather than defining a sebocyte progenitor population.
4 citations
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March 2024 in “Developmental Dynamics” In this study, researchers used conditional mouse models to show that inactivation of the Alx4 gene in specific cell lineages leads to craniofacial and limb defects without affecting postnatal survival, providing insights into Alx4's role in development and disease.
16 citations
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November 1994 in “Developmental Biology” Retinoic acid causes gland formation instead of hair in mouse skin by altering epidermal and dermal interactions.
18 citations
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September 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that vitamin D-upregulated protein 1 (VDUP1) might play a unique role in regulating the differentiation of epidermal cells.
February 2026 in “Advanced Science” This study found that targeting the p300/androgen receptor axis effectively reduced AR activation and ovarian fibrosis in mouse models of polycystic ovary syndrome, suggesting a potential therapeutic approach.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
39 citations
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April 2019 in “The journal of immunology/The Journal of immunology” This study found that Malt1, particularly its protease activity, plays a crucial role in maintaining Treg cell function and homeostasis, with its inactivation leading to autoimmune diseases and altered immune responses in mice.
26 citations
,
April 1996 in “Journal of Investigative Dermatology” 158 citations
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December 2002 in “Development” In this study, Msx2-deficient mice showed progressive hair loss due to shortened anagen phase and prolonged catagen and telogen phases, resulting in cyclic alopecia with structurally abnormal hair shafts.
June 1999 in “Connective tissue” August 2022 in “Precision Clinical Medicine” This study found that the 3' UTR of JAM-A acts as a key competing endogenous RNA that supports dermal papilla cell function and hair follicle regeneration in alopecia areata.
35 citations
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September 2012 in “PloS one” This study found that in Arabidopsis seedlings, tonoplast intrinsic proteins are targeted to the vacuole via at least two pathways, including pathways with differing sensitivity to a chemical inhibitor that affect root hair growth and PIN2 targeting.
May 2023 in “Skin research and technology” This study found that WD-aptamer increased β-catenin expression and promoted human hair follicle dermal papilla cell proliferation by interfering with the CXXC5-Dvl1 interaction in the Wnt signaling pathway.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
4 citations
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January 2023 in “Skin health and disease” This study shows that in a mouse model of Alopecia Areata, selective JAK1 inhibition facilitated hair regrowth and inflammation resolution while potentially offering a better safety profile compared to pan-JAK inhibition.