3 citations
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May 2018 in “Experimental Dermatology” In this study, the researchers reported that patient impacts and symptoms of hidradenitis suppurativa, as assessed by HSIA and HSSA measures, are associated with clinical characteristics such as the number of abscesses and inflammatory nodules.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
December 2024 in “Turkish Journal of Forensic Medicine” This review examines the role and significance of next-generation sequencing technologies in forensic identification and other forensic applications, but reports no new findings.
January 2024 in “Wiadomości Lekarskie” In this study, researchers developed a novel computational framework using deep reinforcement learning to identify strategies for cellular reprogramming in gene regulatory networks, showing its effectiveness in a model of immune response against infection.
September 2020 in “Research Square (Research Square)” This study identified 21 candidate genes related to immunoglobulin concentrations in colostrum and serum of dairy cattle, which may aid in genetic improvement for disease resistance.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.
September 2021 in “Research Square (Research Square)” This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.
188 citations
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March 2018 in “Frontiers in Immunology” This review discusses the role of regulatory T-cells in tissue repair and regeneration across various organs and reports no new clinical results.
131 citations
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November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that alopecia areata can be induced and serially transferred in C3H/HeJ mice using skin grafts, providing a useful model for studying the disease in humans.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
70 citations
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October 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This review discusses the JAK-STAT pathway and the use of FDA-approved JAK inhibitors for autoimmune and inflammatory diseases but reports no new research findings.
56 citations
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December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
36 citations
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July 2014 in “Neuromuscular Disorders” This study investigated a patient with spinal and bulbar muscular atrophy who had 68 CAG repeats, revealing early onset and unique symptoms not previously documented in the condition.
29 citations
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July 2012 in “Fertility and Sterility” This study observed that hepatotoxicity is a rare but possible event in hyperandrogenic young females treated with low- and ultralow-dose flutamide, regardless of dose or oral contraceptive use.
12 citations
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September 2017 in “Molecular and Cellular Endocrinology” This review analyzes how androgens impact sexual desire and reproductive behaviors, emphasizing molecular interactions, but provides no new clinical results.
11 citations
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July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
5 citations
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June 2020 in “Experimental dermatology” This study found that redheaded individuals had higher levels of vitamin D precursor 25(OH)D3 compared to non-redheaded individuals, suggesting a physiological adaptation to low UVB radiation in Europe.
1 citations
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November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
1 citations
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October 1990 in “The Lancet” Using minoxidil for hair growth may cause skin lesions in some people, and taking breaks from nitrate patches for angina might worsen symptoms.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.
February 2026 in “Frontiers in Immunology” In this review, researchers detail how immunosenescence and chronic neuroinflammation contribute to Parkinson's disease progression, exploring potential therapeutic strategies targeting this axis, such as senolytic agents and immune rejuvenation, while highlighting associated challenges and future research needs.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
19 citations
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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.
883 citations
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August 2016 in “Nature Reviews Disease Primers” This review discusses the current understanding of polycystic ovary syndrome, focusing on its epidemiology, pathophysiology, diagnosis, management, and future research directions, but reports no new clinical results.
18 citations
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March 2014 in “Current Pharmaceutical Biotechnology” This review discusses metformin's use in women with polycystic ovary syndrome, focusing on benefits during pre-conception and pregnancy, but reports no new clinical results.
16 citations
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February 2018 in “European Journal of Endocrinology” This review discusses the challenges in measuring testosterone for assessing androgen excess in women and emphasizes the importance of quality control in laboratory methods, but it reports no new clinical results.