January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
9 citations
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January 2019 in “Skin appendage disorders” This study found that among patients with seborrheic dermatitis, the "dandelion" vascular conglomerate observed through trichoscopy was correlated with Malassezia scalp colonization.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
28 citations
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May 2000 in “Proceedings of the National Academy of Sciences” This study demonstrated that the highly divergent WDSV rv-cyclin significantly stimulates eukaryotic cell proliferation, leading to hyperplastic skin lesions in transgenic mice.
9 citations
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June 2020 in “JAAD Case Reports” This article discusses dissecting cellulitis of the scalp, an uncommon hair condition, and reports no new clinical results; recent terminology adjustments are noted for potential overlaps with other follicular diseases.
4 citations
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March 2022 in “Journal of Cosmetic Dermatology” This study found that formulations containing saccharide isomerate significantly improved scalp flaking, sebum secretion, and transepidermal water loss compared to placebo in an adult Chinese population with dandruff.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.
20 citations
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October 2017 in “Stem Cell Reports” This study found that loss of the ACER1 gene in mice led to increased ceramide levels and progressive hair loss, highlighting ACER1's role in maintaining hair follicle stem cell homeostasis.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.
September 2025 in “JID Innovations” This study suggests that macrophages, particularly CD206+ macrophages, play a crucial role in squaric acid dibutylester-induced hair growth in alopecia areata treatment.
6 citations
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January 2018 in “Journal of Cellular Physiology” In this study, adipose-derived stem cells from human scalp were successfully directed towards chondrocyte differentiation, with TGF-beta3 and BMP-6 growth factors proving effective for in vitro chondrogenesis.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
September 2024 in “Journal of the American Academy of Dermatology” This introduction highlights that a common challenge with managing dandruff, a mild form of seborrheic dermatitis, is compliance with treatment, and notes that selenium disulfide shampoo is beneficial for this condition.
This study discovered that in *Drosophila*, knockdown of specific storage proteins in adipocytes decreased germline stem cell maintenance, implicating a role for these proteins in adult tissue regulation.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
September 2019 in “Journal of Investigative Dermatology” This study found that co-culturing dermal papilla cells in a 3D structure with adipose-derived stem cells may enhance the expression of hair inductivity markers compared to 2D cultures.
August 2025 in “Journal of Polymer Science” This review reports that combining adipose-derived stem cells with decellularized extracellular matrix enhances tissue repair by improving scaffold biological activity and promoting angiogenesis, integration, and functional regeneration across various tissues, while addressing challenges in traditional transplantation methods.
83 citations
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May 2011 in “European Journal of Dermatology” This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.
64 citations
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October 2018 in “Thérapie” This report describes the enhancement of the French SNIIRAM/SNDS healthcare database through external data linkages, highlighting its potential use in medical research despite complexities in the integration process.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.