13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.
9 citations
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February 2018 in “Forensic Science International” This study investigated the identity of Victor Vinnetou as Mbuyisa Makhubu using forensic facial comparison and DNA testing, but the findings were inconclusive, requiring further investigation.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, Mpzl3-/- mice developed severe seborrhea-like dermatitis with skin inflammation, indicating MPZL3's role in the skin condition's development, independent of adaptive immunity.
12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
January 2026 in “China CDC Weekly” This study explored using large language models to automatically identify monkeypox cases from electronic medical records, finding that models based on DeepSeek features performed better than traditional methods, with logistic regression showing high accuracy in detecting key symptoms like fever and rash.
April 2023 in “Journal of Investigative Dermatology” CD206+ macrophages are crucial for hair growth in alopecia areata treatment.
66 citations
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March 2016 in “Nucleic Acids Research” This study found that Musashi-2 regulates mRNA targets to restrict epithelial cell migration, revealing a key function of Msi2 beyond its known role in promoting cell growth.
1 citations
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June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
6 citations
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April 2017 in “Experimental dermatology” This study found that B6.CD80CD86−/− mice developed autoimmune-like alopecia with nearly 100% incidence by 40 weeks, making them a promising model for studying human alopecia areata.
52 citations
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April 2013 in “Developmental Cell” This study found that Brg1, a chromatin-remodeling enzyme, plays a critical role in hair regeneration and early epidermal repair by regulating bulge stem cells through a Brg1-Shh interaction.
April 2018 in “Journal of Investigative Dermatology” This study found that BMP signaling is involved in regulating melanogenesis, pigment transfer, and melanocyte migration, contributing to our understanding of skin pigmentation mechanisms.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified that disrupting Mef2c in dermal papilla cells delays the early stages of hair cycle catagen in mice, revealing potential interactions with Sox18 in regulating hair growth.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
June 2023 in “Journal of Burn Care & Research” This study found that combining bone marrow aspirate concentrate with platelet-rich plasma significantly improved wound healing in mice compared to other treatments.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
January 2026 in “Microorganisms” In a DNFB-induced mouse model of atopic dermatitis, this study found that both topical and oral formulations of the probiotic Bifidobacterium animalis J12 improved AD symptoms through distinct mechanisms, with topical applications reducing local inflammation and oral administration enhancing gut microbiota and reducing systemic inflammation.
April 2023 in “Journal of Investigative Dermatology” This study suggests that MPZL3, a mitochondrially localized protein, may play an integral role in regulating hair follicle cycles, with potential therapeutic implications for hair growth disorders if findings translate to humans.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
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.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
9 citations
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November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
1 citations
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November 2016 in “Congenital Anomalies” This review examines the impact of biotin, vitamin B12, and zinc on male reproduction, emphasizing their role in spermatogenic failure, but reports no new clinical results.
20 citations
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January 2017 in “Experimental Dermatology” In this study, deleting the Igf1 receptor in specific skin cells of mice affected hair follicle cycling but not overall skin health, suggesting Igf1r's role in hair cycle regulation through Bmp-4 activation.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study identified interactions between Vitamin D and Msx1 regulation pathways, noting that Msx1 overexpression decreases Vitamin D receptor expression in odontoblastic cells.
36 citations
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November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
26 citations
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May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.