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    Research 31–60 of 1000+

    1. Novel insights into cardiocutaneous syndromes 2022
    2. Concise Review: Wnt Signaling Pathways in Skin Development and Epidermal Stem Cells Stem cells · 2017 · 105 citations
    3. Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy JDDG Journal der Deutschen Dermatologischen Gesellschaft · 2026
    4. One Transgene: Two Outcomes Science s STKE · 2002
    5. One Transgene: Two Outcomes Science Signaling · 2002
    6. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Nature Genetics · 2009 · 181 citations
    7. Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions Research Square · 2026
    8. JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease Journal of Allergy and Clinical Immunology · 2025 · 1 citations
    9. Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice Journal of cell science · 2023 · 2 citations
    10. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    11. Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed Schweizer Archiv für Tierheilkunde · 2020 · 2 citations
    12. Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency The Journal of Clinical Endocrinology and Metabolism · 2008 · 81 citations
    13. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    14. In vivo function of VDR in gene expression-VDR knock-out mice 1999 · 73 citations
    15. 9. Immunology and Genetics Medical & surgical dermatology · 2009
    16. Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase PLoS Genetics · 2010 · 73 citations
    17. Planar cell polarity-dependent and independent functions in the emergence of tissue-scale hair follicle patterns Developmental Biology · 2017 · 33 citations
    18. 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation Journal of Investigative Dermatology · 2017
    19. Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis PloS one · 2015 · 63 citations
    20. Loss of PIKFyve Kinase Function Driven by Platelet Factor 4 Promoter Results in Platelet Lysosomal Storage Defects and Infiltration of Multiple Organs with Vacuolated Macrophages Blood · 2011
    21. The role of aquaporins in polycystic ovary syndrome – A way towards a novel drug target in PCOS Medical Hypotheses · 2017 · 7 citations
    22. A Founder Mutation in the <i>POMC</i> 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA The Journal of Clinical Endocrinology & Metabolism · 2022 · 4 citations
    23. Roles of tumor suppressors in regulating tumor-associated inflammation Cell Death & Differentiation · 2014 · 44 citations
    24. Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly ˜The œAmerican journal of pathology · 2012 · 22 citations
    25. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses Nature Genetics · 2015 · 73 citations
    26. Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities Signal Transduction and Targeted Therapy · 2022 · 318 citations
    27. Animal models and culture methods in the study of hair growth Clinics in dermatology · 2001 · 11 citations
    28. β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis Journal of Investigative Dermatology · 2013 · 17 citations
    29. K <sub>ATP</sub> Channels and Cardiovascular Disease Circulation Research · 2013 · 144 citations
    30. Mechanisms of proton inhibition and sensitization of the cation channel TRPV3 The Journal of General Physiology · 2020 · 15 citations