January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
February 2023 in “Default Digital Object Group” This study demonstrated that a single multimode fiber can be used for single-shot wide-field reflectance imaging, achieving high correlation with the ground truth and enabling real-time microendoscopy at up to 180 frames per second.
15 citations
,
January 1993 in “DNA sequence” This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.
58 citations
,
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.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
8 citations
,
March 2020 in “Frontiers in Cell and Developmental Biology” This study developed a DPC cell line by introducing mutant CDK4, Cyclin D1, and TERT, making it a promising tool to study downstream signaling pathways activated by testosterone in androgenetic alopecia.
August 2026 in “SSRN Electronic Journal”
April 2016 in “Journal of Investigative Dermatology” This study found that administering botulinum toxin A via Flex-PADs to mouse footpads inhibited sweating similarly to traditional injections, suggesting a promising patient-friendly delivery method for hyperhidrosis treatment.
August 2009 in “Mechanisms of Development” October 2020 in “Pediatrics in Review” This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
10 citations
,
January 2016 in “Dermatology” This study found that patients with myotonic dystrophy type 1 developed basal cell carcinomas at a younger age than the general population, suggesting a possible predisposition in this group.
23 citations
,
November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
22 citations
,
September 2024 in “Chemical Engineering Journal” A new microneedle patch effectively and safely treats alopecia areata.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
11 citations
,
December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
2 citations
,
April 2022 in “Research Square (Research Square)” This study found that activating PKM2 and Wnt/β-catenin signaling enhanced hair regrowth and hair follicle stem cell proliferation in mice, suggesting a potential alopecia treatment strategy.
6 citations
,
January 2015 in “Biochemical Society Transactions” This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.
3 citations
,
November 2019 in “The American Journal of Dermatopathology” This study found that multiple eccrine duct dilation is highly specific for diagnosing cicatricial alopecia and may indicate scarring processes, aiding in accurate differential diagnosis from noncicatricial alopecias.
140 citations
,
February 2014 in “Neuron” This study found that the opioid system, particularly via the delta opioid receptor, broadly regulates cutaneous mechanosensation, including touch, and suggests targeting this receptor could alleviate injury-induced mechanical hypersensitivity.
58 citations
,
March 2006 in “Current topics in medicinal chemistry” This review describes how dutasteride, a dual 5alpha-reductase inhibitor, has improved outcomes in benign prostatic hyperplasia and is being studied for prostate cancer prevention, without new data reported.
58 citations
,
June 2000 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that Atlantic croaker nuclear androgen receptors AR1 and AR2 have different binding affinities for androgens, suggesting that they may mediate distinct physiological actions in teleosts.
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.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
2 citations
,
February 2025 in “Journal of Nanobiotechnology” In this study, metal-organic frameworks modified with stearic acid were used to deliver cardamonin to hair follicles, significantly promoting hair growth and cell proliferation in testosterone-challenged mice, suggesting potential benefits for androgenic alopecia treatment.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
July 2025 in “New Phytologist” This study demonstrated that the FER/MLO signaling module regulates calcium dynamics and ROS accumulation in root hair growth, with the constitutively active MLO (faNTA) able to restore normal development and signaling in specific mutant genotypes, highlighting MLO15's role in root hair tip growth regulation.
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.
1 citations
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May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.