6 citations
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August 2020 in “JCRPE” This report presents a case of familial male-limited precocious puberty with a novel LHCGR gene mutation, where a boy responded well to treatment with bicalutamide and anastrozole.
April 2017 in “Journal of Pakistan Association of Dermatology” This study found that female pattern hair loss significantly impacts quality of life, suggesting that psychological support may enhance treatment adherence.
13 citations
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October 2019 in “Journal of Integrative Agriculture” This study found that certain FZD3 gene variants were significantly associated with wool traits in Chinese Merino sheep, suggesting potential as genetic markers for breeding.
January 2024 in “Wiadomości Lekarskie” In this study, researchers examined a patient with ZMYM2::FGFR1 fusion-positive leukemia, finding that Pemigatinib showed efficacy, while Ponatinib resistance was linked to a specific FGFR1 mutation. Other FGFR inhibitors demonstrated high effectiveness in ex vivo assays.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
5 citations
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December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.
May 2026 in “Free Radical Biology and Medicine”
30 citations
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November 2008 in “Facial Plastic Surgery” This review discusses hair transplant techniques for female pattern hair loss and reports no new clinical results; it highlights the benefits of transplants combined with various treatments for improved hair density and styling options.
October 2021 in “Scholarworks (University of Massachusetts Amherst)” This dissertation demonstrates that FERONIA regulates essential plant functions such as RAC/ROP signaling, pollen tube reception, cell wall integrity, and sugar signaling as a cell surface receptor kinase.
80 citations
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November 2017 in “New Phytologist” In this study, the researchers used the dual-flow-RootChip to show that Arabidopsis roots can locally adapt their hair development in response to asymmetric phosphate conditions.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
July 2022 in “Journal of Investigative Dermatology” This study found that the transcription factor Lef1 is crucial for normal skin and hair development and wound healing, highlighting its role in regulating essential genes and pathways in papillary fibroblasts.
6 citations
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January 2014 in “Genetics and Molecular Research” This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.
August 2019 in “Research Square (Research Square)” This study explored how long non-coding RNA mediates the effects of FGF5 on the hair follicle development and villus growth of Liaoning cashmere goats.
In this study, FGF5-knockout Dorper sheep generated using CRISPR/Cas9 showed increased fine-wool and active hair-follicle density, suggesting potential therapeutic applications for androgen alopecia.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
This study explored the structure and function of lipocalin prostaglandin D synthase, revealing its dual role in substrate catalysis and as a lipophilic ligand carrier, potentially informing future drug delivery design.
1 citations
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January 2020 in “Skin appendage disorders” Finasteride may help treat frontal fibrosing alopecia, but more research is needed.
August 2023 in “Clinical, Cosmetic and Investigational Dermatology” In this study, the Hamilton-Norwood subtype of female pattern hair loss was associated with early onset and polycystic ovary syndrome, while the Ludwig pattern was more common overall.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
1 citations
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January 2020 in “Bioscientia medicina” This review covers female pattern hair loss, outlining its progression, existing treatments like topical minoxidil and laser therapy, and notes that anti-androgen therapies need further investigation.
3 citations
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January 2017 in “Acta Dermato Venereologica” This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
February 2026 in “International Journal of Molecular Sciences” In this study, researchers identified 47 proteins associated with male pattern baldness severity and prioritized five candidate genes, including druggable CD38, suggesting new non-hormonal targets for therapeutic development.
March 2023 in “Journal of Cosmetic Dermatology” This case report illustrates that fibrosing alopecia in a pattern distribution may be misdiagnosed as androgenetic alopecia due to similar hair loss patterns, but distinctive trichoscopic and histopathologic features help differentiate it.
6 citations
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June 2019 in “International Journal of Dermatology” This article discusses familial frontal fibrosing alopecia in two male families and reports no new clinical findings.