24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
12 citations
,
December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
June 2017 in “Mechanisms of development” Hox genes control hair follicle stem cell regeneration in different body regions.
6 citations
,
February 2009 in “Journal of Investigative Dermatology” 1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that HIF-P4H-2 function in FoxD1-lineage cells is crucial for normal hair follicle development and homeostasis in mice, implicating disrupted HIF, TGF-β, and Notch signaling pathways in associated defects.
8 citations
,
December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
2 citations
,
March 2019 in “Lasers in surgery and medicine” This study found that human hair follicles demonstrated a dose-dependent response to light in an ex vivo photoepilation model, which could predict the clinical efficacy and permanency of light-based hair removal devices.
June 2022 in “Journal of Dermatology Research” This study found that 448-kHz Capacitive-Resistive Electrothermal Therapy led to a significant increase in hair density in women with Female Pattern Hair Loss, likely due to stimulated proliferation of dermal papilla cells.
22 citations
,
December 2018 in “British Journal of Clinical Pharmacology” This study found that most adverse events reported for HPV vaccines in the VAERS system were non-serious and already known, although less common events suggest the need for further examination.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
6 citations
,
May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
28 citations
,
January 2011 in “Hearing Research” This review covers recent developments in inner ear therapeutics and gene delivery methods but reports no new clinical results; it highlights potential strategies for treating hearing and balance disorders.
3 citations
,
October 1994 in “Journal of Dermatological Science” This study developed a novel monoclonal antibody, TYHF-1, which specifically reacts with hair keratins but not with epidermal keratins or various other tissue cells.
12 citations
,
May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
3 citations
,
July 2020 in “Frontiers in Cell and Developmental Biology” This study found that the purified compound VB1 from Vitex negundo seeds may reduce UVA-induced skin aging by targeting MAPK1 and demonstrated its potential in mice.
February 2013 in “Journal of The American Academy of Dermatology” A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
71 citations
,
October 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents a novel in vitro assay using human folliculoid microspheres to research hair growth, which may facilitate preclinical testing of hair growth-modulatory agents.
16 citations
,
August 2002 in “Journal of Interferon and Cytokine Research” In this case study, hypertrichosis in a patient with hemophilia and hepatitis C may have been induced by IFN-alpha treatment, despite the drug usually causing hair loss.
In this case study, a 19-year-old woman with Henoch-Schönlein purpura, potentially triggered by hepatitis B vaccination, experienced improved symptoms after correcting low vitamin D levels and undergoing tonsillectomy, demonstrating these interventions may benefit similar patients.
120 citations
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May 2012 in “Experimental Cell Research” This study found that VEGF stimulates the proliferation of human hair follicle dermal papilla cells via the VEGFR-2/ERK pathway, without involving p38, JNK, or AKT signaling.
5 citations
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June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
18 citations
,
August 2015 in “International Journal of Molecular Sciences” This study developed an efficient method for isolating and enriching multipotent ovine hair follicle stem cells, which may aid in research on the ovine hair cycle and future wool production.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
27 citations
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July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.