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    1. Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin bioRxiv (Cold Spring Harbor Laboratory) · 2019 · 5 citations
    2. Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Molecular genetics and metabolism · 2006 · 35 citations
    3. Protein Kinase C Downregulation upon Rapamycin Treatment Attenuates Neuroinflammation and Mitochondrial Disease Innovation in aging · 2020
    4. PKC downregulation upon rapamycin treatment attenuates mitochondrial disease Nature metabolism · 2020 · 26 citations
    5. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations
    6. Developmental origin of polycystic ovary syndrome - a hypothesis Journal of Endocrinology · 2002 · 430 citations
    7. Health Care-Related Economic Burden of the Polycystic Ovary Syndrome during the Reproductive Life Span The Journal of Clinical Endocrinology and Metabolism · 2005 · 414 citations
    8. The pathophysiology of polycystic ovary syndrome: trying to understand PCOS and its endocrinology Best Practice & Research in Clinical Obstetrics & Gynaecology · 2004 · 131 citations
    9. Obesity and Polycystic Ovary Syndrome: Implications for Pathogenesis and Novel Management Strategies Clinical medicine insights · 2019 · 129 citations
    10. Adult polycystic ovary syndrome begins in childhood Best Practice & Research Clinical Endocrinology & Metabolism · 2002 · 124 citations
    11. Obesity and polycystic ovary syndrome Clinical Endocrinology · 2021 · 90 citations
    12. Polycystic ovary syndrome and insulin-resistant hyperinsulinemia Journal of the American Academy of Dermatology · 2001 · 60 citations
    13. Compendium of polycystic ovarian syndrome and its relevance in glycation and diabetes Journal of experimental and clinical medicine · 2022 · 1 citations
    14. Emerging concepts about prenatal genesis, aberrant metabolism and treatment paradigms in polycystic ovary syndrome Endocrine · 2012 · 25 citations
    15. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    16. A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome 2002 · 152 citations
    17. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    18. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    19. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    20. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    21. Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases 2026
    22. Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2014 · 87 citations
    23. Dermatopathology and molecular genetics Journal of The American Academy of Dermatology · 2008 · 12 citations
    24. Food and medicine homology: a potential nutritional intervention strategy for post-acute COVID-19 syndrome Frontiers in Pharmacology · 2025 · 1 citations
    25. Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome Medicine · 2020 · 5 citations
    26. A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy Molecular cell · 1998 · 188 citations
    27. Hair glucocorticoid levels in Parkinson’s disease Psychoneuroendocrinology · 2020 · 16 citations
    28. Skin, Genetic Defects, and Aging SpringerBriefs in bioengineering · 2016
    29. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    30. Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis Dermatology Online Journal · 2013 · 78 citations