26 citations
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June 2024 in “Frontiers in Immunology” SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
June 2010 in “Melanoma research” LDE225 is a promising skin-applied treatment for basal cell carcinoma with good skin penetration and effectiveness.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
2 citations
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January 2023 in “Ceramics International” The 3D printed scaffold with SB216763 and copper helps heal wounds and regrow skin and hair.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
91 citations
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December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
September 2025 in “Experimental & Molecular Medicine” Small molecules KY19382 and KY19334 may help treat skin cancer by reducing CDK1 levels and blocking harmful cell signals.
April 2025 in “Journal of the Association for Research in Otolaryngology” NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
Discoid Lupus Erythematosus is more common in women aged 31-40, often worsened by sunlight, and confirmed by specific lab tests.
35 citations
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September 2009 in “Development” Necl2 affects skin cell behavior and slows wound healing.
18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” The study concludes that certain domains in Clostridium histolyticum enzymes are structurally unique, bind calcium to become more stable, and play distinct roles in breaking down collagen, with potential applications in medicine and drug delivery.
2 citations
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June 2022 in “International Journal of Molecular Sciences” Lower levels of certain genes in hair cells improve hair loss treatment outcomes.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
5 citations
,
November 2020 in “EBioMedicine” Disruptions in sleep-wake cycles can cause health problems like mental, metabolic, and heart diseases, and cancer.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
November 2016 in “The Molecular Biology Society of Japan” 55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
46 citations
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May 2021 in “Stem Cell Research & Therapy” Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
April 2017 in “Journal of Investigative Dermatology” Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
April 2018 in “Journal of Investigative Dermatology” Ceramide synthase 4 is essential for maintaining skin barrier health.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
July 2025 in “Journal of Investigative Dermatology” Discoid lupus erythematosus involves immune activation and fibrosis around hair follicles, with shared pathways across humans, dogs, and mice, suggesting potential treatments for both humans and animals.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.