Search
for

    Sort by

    Research 30 of 325

    1. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    2. ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy The Application of Clinical Genetics · 2022 · 15 citations
    3. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma British Journal of Dermatology · 2011 · 11 citations
    4. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    5. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    6. Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations Scientific reports · 2018 · 58 citations
    7. Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle British Journal of Dermatology · 2014 · 25 citations
    8. Decay of Skin-Specific Gene Modules in Pangolins Journal of molecular evolution · 2023 · 1 citations
    9. Convergent Decay of Skin-specific Gene Modules in Pangolins bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 1 citations
    10. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting 2013 · 46 citations
    11. Cantú syndrome with coexisting familial pituitary adenoma Endocrine · 2018 · 14 citations
    12. Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle Histochemistry and Cell Biology · 2021 · 13 citations
    13. A woman with iatrogenic androgenetic alopecia responding to finasteride British Journal of Dermatology · 2007 · 13 citations
    14. Hair follicles modulate skin barrier function Cell Reports · 2024 · 9 citations
    15. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil Journal of Dermatology · 2020 · 7 citations
    16. Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum Neurodegenerative Diseases · 2018 · 7 citations
    17. Jieduquyuziyin prescription alleviates SLE complicated by atherosclerosis via promoting cholesterol efflux and suppressing TLR9/MyD88 activation Journal of Ethnopharmacology · 2023 · 6 citations
    18. Mechanisms of Puerariae Lobatae Radix in regulating sebaceous gland secretion: insights from network pharmacology and experimental validation Frontiers in Pharmacology · 2024 · 3 citations
    19. Early onset female pattern hair loss: a case–control study for analyzing clinical features and genetic variants Journal of Dermatological Science · 2022 · 3 citations
    20. Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening Journal of the American Academy of Dermatology · 2012 · 3 citations
    21. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    22. Why Do Not All Chemotherapy Patients Lose Their Hair? Answering an Intriguing Question Skin appendage disorders · 2021 · 1 citations
    23. Chemotherapy-Induced Alopecia by Docetaxel: Prevalence, Treatment and Prevention Current Oncology · 2024
    24. 371 Hair follicles are critical modulators of skin barrier function Journal of Investigative Dermatology · 2024
    25. Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies? Function · 2022
    26. 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum Journal of Investigative Dermatology · 2021
    27. Genome scan for signatures of adaptive evolution in wild African goat (capra nubiana) 2021
    28. Dynamics of Hair Follicle Morphogenesis and Skin Homeostasis Deep Blue (University of Michigan) · 2018
    29. The pattern recognition receptor toll-like receptor 3 regulates skin barrier homeostasis eScholarship (California Digital Library) · 2014
    30. KATP Channels in Zebrafish Cardiovascular System: A Model to Study Cantú Syndrome Biophysical journal · 2020