August 2023 in “Journal of Investigative Dermatology” This study using scRNA-seq on 96 skin biopsies from 51 healthy individuals revealed distinct cell signaling pathways in different skin sites, including unique pathways in facial and palmoplantar skin, which may explain their varying susceptibilities to skin disorders.
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.
3 citations
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October 2025 in “Cancer” This review highlights the potential of PROTACs to transform cancer treatment by selectively degrading oncogenic proteins, overcoming drug resistance, and reducing toxicity; it also discusses challenges in optimizing these therapies for personalized applications.
August 2024 in “Clinical & experimental pathology” This research highlights significant advancements in forensic DNA phenotyping, enabling predictions of physical traits, ancestry, and age from crime scene DNA, but notes that further research and validation are needed for greater accuracy and reliability.
1 citations
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January 2025 in “medRxiv” In this case-control study, researchers did not find genome-wide significant genetic variants for trichotillomania, but cases had higher polygenic risk for psychiatric disorders and certain neuropsychiatric-associated copy number variants.
April 2025 in “Frontiers in Immunology” This case report describes significant therapeutic effects from Tofacitinib Citrate Sustained-Release Tablets in a patient with Alopecia Areata, while highlighting the economic burden of long-term treatment.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
3 citations
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June 2023 in “Frontiers in Medicine” This study constructed a model using serum levels of BMP2, CD8A, PRF1, and XCL1 as a non-invasive biomarker to accurately predict recurrence in patients with alopecia areata.
This study found that super-enhancers in squamous cell carcinoma stem cells are distinctly different from those in normal skin stem cells, with ETS2 playing a crucial role in promoting tumor growth.
This study created a detailed atlas of endogenous peptides across 13 maize tissues during various developmental phases, revealing a complex regulatory network where peptide abundance doesn't always align with their source proteins, signaling unique roles in maize development.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
39 citations
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January 2019 in “Journal of the American Academy of Dermatology” In this study, three children with severe alopecia treated with systemic tofacitinib showed significant hair regrowth, suggesting it may be a potential option for those unresponsive to conventional therapy.
March 2012 in “Society for Endocrinology BES 2012” This study presents a novel assay that allows for the simultaneous measurement of various androgens and 5α-reductase inhibitors in male serum, facilitating research into the biochemical effects of these inhibitors.
8 citations
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December 2022 in “BMC Genomics” This study revealed gene expression patterns in yak hair follicles during different growth phases, enhancing the understanding of cell fate specialization and providing insights for yak villus development.
9 citations
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September 2023 in “Viruses” In this study, researchers in Southeastern Wisconsin characterized circulating SARS-CoV-2 lineages, notably identifying the dominance of Omicron variants, including sublineages XBB.1.5, XBB.1.16, and XBB.1.9.1, which exhibit mutations aiding viral transmission and immune evasion. This genetic analysis supports public health efforts in monitoring evolving virus strains.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
11 citations
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April 2017 in “Journal of The European Academy of Dermatology and Venereology” This study found that long non-coding RNAs are differentially expressed in androgenetic alopecia, suggesting potential roles in its development and novel targets for prevention and treatment.
2 citations
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December 2022 in “PNAS nexus” In laboratory experiments, this study found that the topical prodrug SCD-153, a derivative of 4-methyl itaconate, reduced inflammation-related gene expression and induced significant hair growth in mice, suggesting it as a promising treatment candidate for alopecia areata.
2 citations
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January 2023 in “Anais Brasileiros de Dermatologia” 3 citations
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study used scRNA-Seq to map the transcriptional changes during zebrafish hair cell regeneration, revealing distinct phases including injury response, transient regeneration gene activation, and reactivation of developmental programs.
1 citations
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August 2023 in “Genome research” This study found that in spiny mice, the proximal side of ear wounds is crucial for regeneration, a process possibly linked to unique injury-induced immune responses compared to nonregenerative rodents.
1 citations
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April 2018 in “Journal of Investigative Dermatology” This open-label study found that oral tofacitinib led to significant hair regrowth in patients with moderate-to-severe alopecia areata, supported by changes in gene expression and T cell dynamics.
1 citations
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May 2017 in “Journal of the American Academy of Dermatology” Oral tofacitinib may be an effective and tolerable treatment for some people with severe alopecia areata.
11 citations
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January 2018 in “Acta dermato-venereologica” In this study, oral tofacitinib showed higher efficacy and tolerability in treating refractory alopecia totalis and universalis compared to traditional treatments, achieving a 50% improvement in severity scores for 44.4% of patients over six months, with fewer adverse effects.
November 2024 in “Journal of Investigative Dermatology” Aptamers can improve wound healing and promote hair growth.
November 2020 in “Dubai medical journal” This case report described a 24-year-old with alopecia totalis who saw full scalp hair regrowth by the 9th month while using oral tofacitinib, which was well-tolerated and did not show serious adverse effects. Longer-term studies are needed to confirm its overall effectiveness for alopecia totalis.
April 2026 in “Frontiers in Immunology” In this study, researchers did not find any genome-wide significant genetic signals linked to comorbid chronic inflammatory disorders in patients with alopecia areata, but exploratory analysis suggested potential associations worth further study.
July 2021 in “Journal of dermatology & dermatologic surgery” In this study, two patients with severe alopecia areata who did not respond well to oral tofacitinib showed more than 50% hair regrowth after a single dose of intramuscular triamcinolone acetonide.