475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
10 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.
11 citations
,
November 1998 in “Journal of dermatological science” This review summarizes studies on knockout mouse models revealing abnormalities in skin and hair follicle development but reports no new experimental results; the authors highlight the utility of these models for understanding hereditary skin disorders.
1 citations
,
February 2016 in “Cell Transplantation” In this study, researchers found that hair follicles and dermal fibroblasts, including dermal papilla cells, supported sustained hair growth in transplanted murine models, with RNA-seq analysis revealing active signaling pathways and gene expression patterns.
4 citations
,
May 2009 in “Wound Repair and Regeneration” This study found that transplanting genetically modified dermal fibroblasts into full-thickness skin defects in rats led to the formation of hair follicles with mature pilosebaceous systems by 16 weeks.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
3 citations
,
July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
1 citations
,
March 2019 in “Hair transplant forum international” In this study, no significant differences in cellular stress response or growth capabilities were found between FUE and FUT hair restoration techniques.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
October 2022 in “Research Square (Research Square)” This study found that type I interferon response-related genes activated by RIG-1 and IL-17 pathways were significantly up-regulated in hair follicle and skin samples with chronic discoidal lupus erythematosus.
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.
8 citations
,
July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
5 citations
,
February 1981 in “Experientia” In this study, a new hairless gene in the Donryu rat strain was identified, showing skin similarities to human skin tumors with multiple follicular cysts.
1 citations
,
January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
October 2022 in “Medičnì perspektivi” This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.
This report presents a case of IFAP syndrome with the typical symptoms of alopecia universalis, severe photophobia, and follicular ichthyosis, but provides no additional clinical findings or conclusions.
109 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This article discusses the role of hair follicles in enhancing topical drug delivery and explores strategies for targeting these areas to improve treatment outcomes for skin diseases, but reports no new research results.
35 citations
,
January 2011 in “Journal of Biological Chemistry” This study found that overexpression of sPLA2-X in mice was associated with alopecia and hair follicle abnormalities, highlighting its potential role in hair follicle homeostasis.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
14 citations
,
September 2010 in “Annals of Plastic Surgery” This article reviews recent advancements in understanding hair follicle biology, with a focus on the potential for gene therapy in treating alopecia, but it reports no new research findings.
6 citations
,
July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
6 citations
,
March 2019 in “Dermatologic surgery” This study found that storing hair follicle grafts in chilled ATPv-supplemented saline was most effective for preserving trichogenic gene expression, compared to other storage solutions and temperatures.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
5 citations
,
December 2016 in “International journal of biometeorology” In this study, bright light exposure during the daytime did not significantly affect clock gene expression in humans, although Rev-erb-ß expression appeared stronger under bright light compared to dim light.
3 citations
,
January 2025 in “动物学研究” This study used high-resolution imaging and genetic analysis to investigate hair density in the Dazu black goat, identifying key genes like GJA1 and GPRC5D involved in follicle development and maintenance, and highlighted their role in animal hair density regulation.
2 citations
,
June 2001 in “American Journal of Pathology” This article explores the complexity and significance of the hair follicle, emphasizing new insights into its biological roles and the involvement of p53 in follicular regression.
December 2022 in “Research Square (Research Square)” In this study, type I interferon response-related genes activated by RIG-1 and IL-17 signaling pathways were significantly up-regulated in both hair follicles and skin tissues affected by chronic discoidal lupus erythematosus.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
33 citations
,
October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.