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    Research 31–60 of 1000+

    1. Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II Calcified tissue international · 2009 · 18 citations
    2. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations
    3. Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor Journal of bone and mineral research · 1998 · 47 citations
    4. Alopecia universalis after discontinuation of pegylated interferon and ribavirin combination therapy for hepatitis C: a case report Annals of Hepatology · 2014 · 3 citations
    5. Hair anatomy for the clinician Journal of The American Academy of Dermatology · 1991 · 139 citations
    6. Hair Density in African Americans Archives of Dermatology · 1999 · 129 citations
    7. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    8. 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
    9. More than 50 Long-term effects of COVID-19: a systematic review and meta-analysis medRxiv (Cold Spring Harbor Laboratory) · 2021 · 114 citations
    10. Deciphering a Message from the Nucleus: How Transcription Factors and Spatial Chromatin Interactions Orchestrate Epidermal Differentiation 2023
    11. A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter JAAD case reports · 2023
    12. A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family BMC Pregnancy and Childbirth · 2025
    13. Mechanisms of proton inhibition and sensitization of the cation channel TRPV3 The Journal of General Physiology · 2020 · 15 citations
    14. Self-consistent field theory for the interactions between keratin intermediate filaments BMC Biophysics · 2013 · 12 citations
    15. Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia 2009 · 42 citations
    16. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta Frontiers in endocrinology · 2023 · 1 citations
    17. Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features American Journal of Medical Genetics Part A · 2018 · 39 citations
    18. Isolation and Molecular Cloning of Epidermal- and Hair Follicle-Specific Peptidylarginine Deiminase (Type III) from Rat The Journal of Biochemistry · 1997 · 42 citations
    19. GLI2-specific Transcriptional Activation of the Bone Morphogenetic Protein/Activin Antagonist Follistatin in Human Epidermal Cells 2008 · 39 citations
    20. Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity Cell reports · 2018 · 25 citations
    21. The roles of collagen XVIII and its endostatin domain in wound healing, hair follicle cycling and bone development 2009 · 10 citations
    22. Carbon-13 n.m.r. studies of keratin intermediate filament of human hair Polymer · 1998 · 5 citations
    23. Insights into the regulation of plant plasma membrane H+-ATPase : Interactions with microbial compounds and implications for root hair growth Research Portal Denmark · 2024
    24. Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice) Bone · 2010
    25. Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient International journal of dermatology and venereology · 2022
    26. Abstract 1026: A non-apoptotic function for Mcl-1 as an activator of canonical Wnt signaling in keratinocytes Cancer Research · 2010
    27. Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control Experimental dermatology · 2005 · 20 citations
    28. Colocalization of Cystatin M/E and its Target Proteases Suggests a Role in Terminal Differentiation of Human Hair Follicle and Nail 2008 · 22 citations
    29. Hidradenitis Suppurativa/Acne Inversa/Dissecting Terminal Hair Folliculitis Springer eBooks · 2019 · 1 citations
    30. Phylloid terminal hair nevus: A unique clinical entity Pediatric Dermatology · 2018