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    1. Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant PloS one · 2012 · 6 citations
    2. A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats Scientific Reports · 2013 · 40 citations
    3. 874 Elevated expression of osteopontin splice variants in nonmelanoma skin cancer compared to normal skin and adult keratinocytes Journal of Investigative Dermatology · 2018
    4. Low-Dose Dimethyl Sulfoxide (DMSO) Suppresses Androgen Receptor (AR) and Its Splice Variant AR-V7 in Castration-Resistant Prostate Cancer (CRPC) Cells Therapeutics · 2025
    5. Cancer vaccine strategies and studies of human thioredoxin reductase splice variants OPAL (Open@LaTrobe) (La Trobe University) · 2010
    6. Abstract 5561: 20(S)-Protopanaxadiol-aglycone downregulates full-length and ligand-independent splice variants of androgen receptor Cancer Research · 2011
    7. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    8. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    9. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    10. Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing Psychiatry research. Case reports · 2023
    11. 25 years of ERβ: a personal journey Journal of molecular endocrinology · 2021 · 11 citations
    12. Prostaglandin D2 Inhibits Wound-Induced Hair Follicle Neogenesis through the Receptor, Gpr44 Journal of Investigative Dermatology · 2012 · 68 citations
    13. Deciphering the pathogenesis of central centrifugal cicatricial alopecia 2019
    14. 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2019
    15. Recent discoveries and developments of androgen receptor based therapy for prostate cancer MedChemComm · 2015 · 17 citations
    16. A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997 · 28 citations
    17. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    18. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed Genes · 2020 · 27 citations
    19. 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum Journal of Investigative Dermatology · 2025
    20. Pseudallescheria boydii infection associated with IgG4-related disease European Journal of Dermatology · 2022 · 3 citations
    21. Post SARS-CoV-2 vaccination effluvium European Journal of Dermatology · 2022
    22. A blistering child: sudden erythema with blisters in a sick girl European Journal of Dermatology · 2022 · 1 citations
    23. Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles International Journal of Molecular Sciences · 2020 · 10 citations
    24. A novel AR molecular glue degrader via bivalent engagement of the N-terminal domain and RNF213–UBE2J2 complex bioRxiv (Cold Spring Harbor Laboratory) · 2026
    25. Against the Rules: Human Keratin K80 Journal of Biological Chemistry · 2010 · 40 citations
    26. A Case Report and a Review of TRAPPC4‐Related TRAPPopathy International Journal of Developmental Neuroscience · 2026
    27. Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function Molecular Medicine · 2004 · 31 citations
    28. DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE Wiadomości Lekarskie · 2024
    29. Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome Blood · 2016 · 4 citations
    30. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations