This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
March 2023 in “SKIN The Journal of Cutaneous Medicine” This study observed that most patients with alopecia areata experienced sustained scalp hair regrowth after 48 weeks of ritlecitinib treatment, with safety consistent with prior findings.
11 citations
,
February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
July 2025 in “Journal of the European Academy of Dermatology and Venereology” This study reports no new findings but provides corrected figures for the long-term safety and efficacy of ritlecitinib in treating alopecia areata from the ALLEGRO-LT phase 3 study.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
26 citations
,
June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
27 citations
,
September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
February 2016 in “Journal of Allergy and Clinical Immunology” This report highlights a case of disseminated and recurrent infundibulofolliculitis in a 45-year-old African American male and underscores the importance of performing a skin biopsy for diagnosis.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” This report describes a case of Rothmund-Thomson type congenital poikiloderma, noting minor skin changes, hair loss, and slightly elevated lysine and cystine in the urine.
6 citations
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April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
January 2026 in “Dermatologic Therapy” In this prospective study, ritlecitinib effectively reduced hair loss in patients with severe alopecia areata, with 43.3% of participants achieving a 20 or lower SALT score by week 24, and showed a good midterm safety profile.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
3 citations
,
September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
2 citations
,
January 2023 in “BMC plant biology” This study found that root hair length and density in rice are controlled by distinct genomic regions, with 18 regions identified but no overlap between the traits.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” This case report describes a 54-year-old woman with familial dyskeratotic comedones who experienced slight improvement in her skin lesions after three months of treatment with topical retinoids and urea cream.
175 citations
,
August 1997 in “Nature Genetics”
5 citations
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September 2015 in “Nepalese journal of ophthalmology” This case report highlights an 11-year-old girl with dermatopathia pigmentosa reticularis, identifying associated Salzmann's nodular degeneration of the cornea and emphasizing the need for a multidisciplinary management approach.
19 citations
,
November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
This case report documents a 44-year-old female with Down's syndrome who was diagnosed with both rheumatoid arthritis and gouty arthritis, highlighting her specific clinical presentation and treatment regimen.
13 citations
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August 2000 in “Blood” This article discusses the evaluation of minimal residual disease in childhood acute lymphoblastic leukemia using molecular methods and reports no new findings.
September 2024 in “Drugs & Therapy Perspectives” In this study, ritlecitinib, an oral medication approved for adolescents and adults, significantly reduced scalp hair loss and promoted eyebrow and eyelash regrowth in severe alopecia areata patients, with benefits sustained over 48 weeks and generally well-tolerated minor side effects.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
9 citations
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November 2015 in “Gynecological Endocrinology” This study found that among different subtypes of PCOS based on Rotterdam criteria, group A showed higher androgen levels and hirsutism, while all subtypes had increased LH and LH/FSH compared to controls.
15 citations
,
January 2025 in “Journal of the European Academy of Dermatology and Venereology” Ritlecitinib is effective and safe for treating alopecia areata, promoting significant hair regrowth.
1 citations
,
November 2025 in “American Journal of Clinical Dermatology” This study reports that long-term treatment with ritlecitinib is generally well tolerated for up to approximately five years in patients aged 12 and older with alopecia areata, with the safety profile aligning with previous data from the ALLEGRO clinical trials.