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    1. Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017
    2. Telogen elongation in the hair cycle of <i>ob/ob</i> mice Bioscience, Biotechnology, and Biochemistry · 2015 · 5 citations
    3. The dermatological consequences of obesity International Journal of Dermatology · 2013 · 20 citations
    4. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    5. A Clinical Approach to Severe Insulin Resistance KARGER eBooks · 2007 · 32 citations
    6. Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 2017 · 1 citations
    7. Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish International Journal of Molecular Sciences · 2025 · 1 citations
    8. Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year JCRPE · 2022 · 1 citations
    9. What causes hidradenitis suppurativa ?—15 years after Experimental Dermatology · 2020 · 78 citations
    10. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    11. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    12. Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse Molecular genetics and genomics · 2004 · 12 citations
    13. 1379 Cell of origin contributes to the melanoma diversity Journal of Investigative Dermatology · 2018
    14. A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome Diabetes Metabolic Syndrome and Obesity · 2024 · 1 citations
    15. 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy Journal of Investigative Dermatology · 2017
    16. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 citations
    17. Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse The Journal of Physiology · 2024 · 7 citations
    18. Glycome profiling by lectin microarray reveals dynamic glycan alterations during epidermal stem cell aging Aging Cell · 2020 · 23 citations
    19. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    20. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    21. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    22. Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep Genes · 2026
    23. Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ Proceedings of the National Academy of Sciences of the United States of America · 2013 · 218 citations
    24. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    25. Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities Signal Transduction and Targeted Therapy · 2022 · 318 citations
    26. E-Poster Indian Journal of Endocrinology and Metabolism · 2023
    27. The interplay of oxidative stress and immune dysfunction in Hashimoto’s thyroiditis and polycystic ovary syndrome: a comprehensive review Frontiers in Immunology · 2023 · 1 citations
    28. Leptin controls hair follicle cycling Experimental Dermatology · 2014 · 25 citations
    29. Androgen receptor gene polymorphism and biological age markers in men Scientific Reports · 2025
    30. Gene Therapy: Recent Advances and Applications in Dermatology Journal of Cutaneous Medicine and Surgery · 1996 · 1 citations