6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
September 2013 in “Oncology Times” Oncology specialists are disappointed by the discontinuation of the effective lymphoma treatment Bexxar.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
21 citations
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November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
9 citations
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February 2024 in “mBio” Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
9 citations
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January 2017 in “Annals of Dermatology” The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
5 citations
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January 2022 in “Health Science Reports” Gremlin proteins help regulate hair growth by balancing signals in hair follicles.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
2 citations
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July 2025 in “Scientific Reports” Acinetobacter strain A1-4-2 can safely clean water pollutants.
26 citations
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December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
4 citations
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January 2021 in “PubMed” Botulinum toxin type A injections may help treat hidradenitis suppurativa.
3 citations
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January 2017 in “Acta Dermato Venereologica” Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
10 citations
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November 2023 in “Science Immunology” Super-enhancers control CD25 expression in specific cell types, affecting immune function.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
January 2019 in “Dermatologic Surgery”
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
111 citations
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August 2002 in “Journal of Medicinal Chemistry” New compounds were made that block an enzyme linked to breast cancer better than existing treatments.
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October 2022 in “British journal of haematology” A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
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January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
35 citations
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February 2023 in “Biomolecules” Granzyme B is important in autoimmune skin diseases and could be a new treatment target.
July 2024 in “Journal of Investigative Dermatology” November 2024 in “Journal of Investigative Dermatology”