2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
1 citations
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August 2023 in “Biomolecules & therapeutics” In this study, researchers found that recombinant human HAPLN1 promoted hair growth in mice and human hair matrix cells by activating specific signaling pathways, suggesting it may offer a potential hair loss treatment with fewer side effects than existing medications.
85 citations
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March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
19 citations
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August 2012 in “Cell death and differentiation” This study found that disrupting the inturned gene in developing mouse epidermis halted hair follicle formation due to impaired keratinocyte differentiation, highlighting primary cilia's role in tissue-specific planar cell polarity signaling.
August 2025 in “Cermin Dunia Kedokteran” This article discusses Human Metapneumovirus (HMPV) and highlights the need for continued research, noting that while supportive treatments exist, no vaccines or specific therapies are currently available.
5 citations
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January 2012 in “Biological & Pharmaceutical Bulletin” This study found that extract of Hura crepitans inhibited androgen-accelerated NT-4 activity and ameliorated the retardation of hair regrowth in dihydrotestosterone-implanted mice, suggesting a potential role for NT-4 inhibitors in AGA.
This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
October 2025 in “Proceedings of the National Academy of Sciences” This study identifies the PI4P-RHD4 module as a key regulator of GET pathway receptor dynamics in Arabidopsis, affecting TA protein insertion and root hair growth.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
3 citations
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May 2020 in “Journal of Cellular and Molecular Medicine” This study identified critical roles for the gene GREM1 in the differentiation and expansion of endothelial progenitors derived from human urinary induced pluripotent stem cells.
9 citations
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August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.
112 citations
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October 2008 in “Wound Repair and Regeneration” This study demonstrated that disrupting sonic hedgehog signaling, using cyclopamine, significantly impaired wound healing in a mouse model, suggesting its crucial role in postnatal tissue repair.
August 2024 in “Biomolecules & Therapeutics” In this study, the researchers reported that a newly developed PYGL inhibitor, HTPI, enhanced hair growth in an ex-vivo culture by reducing oxidative damage in hDPCs and inhibiting glycogen degradation in hORSCs, showing potential as a treatment for hair loss comparable to minoxidil.
48 citations
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April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
8 citations
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” This study observed unique ultrastructural changes in a 4-year-old girl with pili trianguli et canaliculi that may affect hair shaft surface characteristics due to inner root sheath alterations.
September 2016 in “Journal of Dermatological Science” This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.
4 citations
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January 2017 in “Annals of Dermatology” Frequent hairdryer use may worsen hair fragility in people with Pili Annulati.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
1 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that a specific fragment of AIMP1 secreted by hair follicle stem cells can stimulate dermal papilla cells and promote hair regrowth.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
15 citations
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December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
85 citations
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June 2017 in “Journal of Investigative Dermatology” This study found that Blimp1 plays a key role in promoting hair follicle morphogenesis and growth by mediating inductive signaling pathways in dermal papilla cells.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
4 citations
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April 2018 in “Journal of Investigative Dermatology” This study suggests that hydroxypinacolone retinoate (HPR) may be an effective alternative to tretinoin for anti-aging skin treatments, offering similar collagen production benefits without increased skin irritation.
17 citations
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September 2010 in “Pediatric dermatology” This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.
36 citations
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June 2021 in “Experimental & Molecular Medicine” This study found that mechanical stress activates a WISP-1/Hedgehog signaling axis that contributes to ligamentum flavum hypertrophy and fibrosis, identifying Hedgehog signaling as a potential therapeutic target.