November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.
July 2024 in “Journal of Dermatological Treatment” In this case report, a 6-year-old boy with hidrotic ectodermal dysplasia 2 caused by GJB6 mutations showed no significant hair improvement with age, despite treatment with botanical extracts and Minoxidil.
3 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
19 citations
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August 2022 in “Forensic Science International Genetics” This study developed and validated tissue-specific and age prediction models using epigenetic markers, achieving up to 83.69% correct classification for tissue origin and a median absolute error of ±3.66 years for age estimation.
May 2015 in “Endocrinología y nutrición” This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
32 citations
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July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
79 citations
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October 1998 in “Genomics” This study found that the mK6alpha and mK6beta genes in mice are regulated differently at the mRNA level, with implications for understanding K6 gene evolution and function in mammals.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
June 2008 in “The Knowledge Bank (The Ohio State University)” This study found that deleting Smad2 and Smad3 in murine skin leads to severe skin abnormalities and cancerous lesions, similar to but more severe than those seen in Smad4 mutants, indicating the critical role of TGF-β signaling in skin development.
September 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This research introduces the MHS Hair Restoration Protocol, which is a comprehensive approach aimed at restoring the hair follicle environment by modulating the gut-microbiome-endocannabinoidome axis and incorporating specific dietary and topical strategies, rather than focusing only on short-term hair count improvements.
60 citations
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October 2020 in “Nature Communications” This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.
7 citations
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July 2005 in “Journal of Dermatological Science” This study identified a gene transcript overexpressed in dermal papilla cells, showing strong similarity to a mouse gene associated with adipose tissue in bombesin receptor subtype-3-deficient mice.
17 citations
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May 2019 in “Molecules” This study found that domestic temporary hair dyes may pose a health risk due to their cytotoxic effects on human red blood cells and NIH/3T3 cell lines.
65 citations
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March 2004 in “Journal of Clinical Investigation” In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
1 citations
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September 1993 in “Archives of Disease in Childhood” This article discusses the importance of considering biotinidase deficiency in differential diagnosis for patients with certain neurological and dermatological symptoms, as timely treatment with biotin is crucial to prevent severe consequences.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new FAK isoform, FAKΔe4, which is regulated by ECM stiffness and affects cell migration, invasion, and mechanosensing in human-derived data and engineered models.
December 2013 in “Appetite” This study identified a nonfunctional Itpr3 gene in BTBR mice, attributed to a 12-bp deletion, which likely causes their simultaneous hair loss and taste perception deficits.
10 citations
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May 2016 in “Journal of Dermatological Science” This study found that PDGF-BB affects human melanocytes differently depending on their differentiation stage, stimulating melanoblast proliferation but inhibiting melanocyte proliferation while promoting their differentiation.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.
31 citations
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June 2017 in “Regeneration” This study found that applying BMP2 stimulated limited regeneration of the amputated P2 bone in mice, but only when applied during a specific "regeneration window" after injury.
September 2023 in “Journal of the American Academy of Dermatology” This study discusses calcinosis cutis and alopecia totalis, highlighting the need for thyroid disease screening in children with alopecia areata, especially those with a history of Down syndrome or signs of potential thyroid dysfunction.
June 2026 in “Applied Biological Chemistry” This study found that the M5 isolation method for human dermal papilla cells significantly improved attachment efficiency, proliferative capacity, and trichogenic potential, providing an optimized strategy for scalable manufacturing in hair regeneration therapies for conditions like alopecia.
8 citations
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January 1984 in “Veterinary Pathology” This study found no conclusive link between prolonged mibolerone treatment and perifollicular mineralization in toy poodles, suggesting it may instead be a senile change common in the breed.