11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
1 citations
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August 2021 in “Journal of The American Academy of Dermatology” This study evaluates the effectiveness and safety of 2-mg and 4-mg doses of baricitinib in patients with alopecia areata who have lost at least 50% of their scalp hair, comparing outcomes between those with early and late onset of the disease.
22 citations
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August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” This study reports that treatment with X-rays or procarbazine induced dose-dependent mutations in melanocytes in mouse hair follicles, showing similar mutation rates to previous methods.
3 citations
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February 2022 in “Rheumatology” In this report, a 25-year-old female patient with anti-MDA5 antibody-positive dermatomyositis and alopecia areata achieved complete remission of hair loss after treatment with baricitinib.
August 2015 in “Han'gug dongmul jawon gwahag hoeji/Han-guk dongmul jawon gwahak hoeji/Journal of animal science and technology” This study reported variable expression levels of TRα and CRABPII genes during the prenatal development of cashmere goats, contributing to an understanding of hair follicle formation in these animals.
In this study, a validated chromatographic method demonstrated the ability to simultaneously analyze gemcitabine and olaparib in pancreatic cancer tissues, supporting the advancement of pharmaceutical formulations combining these drugs, particularly for patients with BRCA mutations.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
6 citations
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August 2014 in “Toxicologic pathology” This study found that prolonged inhibition of DGAT1 in mice and dogs led to atrophy of sebaceous glands, with mice also experiencing alopecia, suggesting potential skin-related risks for humans using DGAT1 inhibitors.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
September 2023 in “Journal of the American Academy of Dermatology”
March 2005 in “Journal of The American Academy of Dermatology” Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
36 citations
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July 2007 in “Journal of Investigative Dermatology” This study observed a strong negative association between the HLA-DQB1*0201 allele and the alopecia totalis/alopecia universalis phenotype in Caucasian individuals, indicating a potential protective role.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
58 citations
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February 2016 in “Scientific reports” This study found that dual inhibition of BACE1 and BACE2 in mice affects melanosome maturation and causes dose-dependent hair depigmentation without altering retinal morphology.
60 citations
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July 2014 in “Autophagy” This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
January 2026 in “Animals” This study researched the dun coat color in Mongolian horses, finding that variations in TBX3 expression in different skin areas are linked to Bider markings, suggesting TBX3's role in this specific pigment pattern, while further investigation is needed on its regulation.
11 citations
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February 2022 in “JAAD case reports” This case report observed hair regrowth following the treatment of alopecia universalis and atopic dermatitis with tofacitinib, a JAK inhibitor.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
10 citations
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May 2020 in “International Journal of Molecular Sciences” This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.
2 citations
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July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.
182 citations
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August 2016 in “Development” This review discusses the roles and mechanisms of chromatin remodelers and their subunits in mammalian development, but reports no new experimental results.
12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
July 2025 in “Journal of Investigative Dermatology” Secreted inhibitors of Wnt and IGF signaling control hair and tooth development, creating species-specific patterns.
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.