44 citations
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February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
July 2025 in “Journal of Investigative Dermatology” Upadacitinib effectively treats pyoderma gangrenosum.
September 2022 in “PubMed” Entadfi, a mix of finasteride and tadalafil, is used for BPH.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
August 2023 in “Clinical and Experimental Dermatology” The document discusses a special exam case for formulating and using systemic therapy named Athena.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
50 citations
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September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
September 2024 in “Journal of the American Academy of Dermatology”
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
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.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
January 2012 in “Medizinisch Wissenschaftliche Verlagsgesellschaft eBooks” The document is about male pattern baldness.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
January 2014 in “cIRcle (University of British Columbia)” Photoacoustic imaging can detect prostate brachytherapy seeds better with enhanced contrast methods, but depth limits remain.
1 citations
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
7 citations
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November 2017 in “Cureus” Ear creases might indicate heart disease risk, needing more research.
January 2025 in “JCEM Case Reports” Metyrapone can effectively treat Cushing's Disease even if the mass causing it is not found.
January 2024 in “Brazilian Journal of Veterinary Pathology” The horse had a rare disease causing weight loss and skin issues, leading to euthanasia due to poor treatment options.
September 2022 in “Piretc” The document's conclusion cannot be provided because the document is not accessible or understandable.
August 2020 in “OPAL (Open@LaTrobe) (La Trobe University)”